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List of works by Bruno Dallapiccola

16p subtelomeric duplication: a clinically recognizable syndrome.

scientific article

22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

scientific article (publication date: February 2006)

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

scientific article published on 01 May 1995

2q31.2q32.3 deletion syndrome: report of an adult patient

scientific article published on 01 February 2009

3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations

article

3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

scientific article published on 24 September 2014

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

scientific article published in August 2009

A 4-polymorphism risk score predicts steatohepatitis in children with nonalcoholic fatty liver disease

scientific article published on May 2014

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

scientific article published in November 1990

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors

scientific article

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

article

A Single Polymerase Chain Reaction-Based Protocol for Detecting Normal and Expanded Alleles in Myotonic Dystrophy

scientific article published on 01 June 1998

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

scientific article published on 01 January 2001

A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients

article

A comment on the paper: Recurrence of down syndrome associated with microchromosome by C. Ramos, L. Rivera, J. Benitez, E. Tejedor, and A. Sanchez-Cascos

article

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

scientific article published on 03 March 2015

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

scientific article published on 01 September 1999

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities

scientific article published on 9 March 2007

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12–q12.1

article

A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago

scientific article published on 01 January 1997

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region ⬇️

scientific article published on 01 March 1998

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

scientific article

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

scientific article published in March 2004

A nationwide genetic testing survey in Italy, year 2007.

scientific article published in February 2010

A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay

scientific article published on 01 January 1994

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

scientific article published in December 2004

A novel family with an unusual early-onset generalized dystonia

scientific article published on 01 January 2005

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

scientific article published on March 2010

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

scientific article published in October 2005

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

scientific article

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

scientific article

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

article

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

scientific article published on January 2012

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

article

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 ( BMP 4 ) gene

article

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients

A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma

scientific article published on 01 June 2007

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

AUSTRALIA ANTIGEN AND DOWN'S SYNDROME

scientific article published in The Lancet

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women

scientific article published on 01 July 2000

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

article published in 2005

Acro-cardio-facial syndrome

scientific article

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

Acute lymphocytic and myelomonocytic leukemia associated with low platelet counts and a 21q- marker chromosome

scientific article published on 01 January 1981

Additional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

article

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

scientific article

Administration of autologous erythrocytes loaded with dexamethasone 21-phosphate is effective in steroid-dependent IBD

Advances in the search for psoriasis susceptibility genes.

scientific article

Aicardi syndrome in a male infant

scientific article published on 01 February 1980

Alkaline Phosphatase Expression in Human Chorionic Villi

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

scientific article

An excess of chromosome 1 breakpoints in male infertility

article

Analysis of CARD15 Gene Variants in Italian Pediatric Patients with Inflammatory Bowel Diseases

article

Analysis of a polymerase chain reaction-amplified product of the DXS 164 locus in the dystrophin gene

article

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

scientific article

Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility

scientific article published in April 2004

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

scientific article published in October 1995

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

scientific article

Anatomic patterns of conotruncal defects associated with deletion 22q11

scientific article published on 01 January 2001

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

scientific article published on 01 July 2006

Apolipoprotein E genotypes in hospitalized elderly patients with vascular dementia

scientific article published on 19 March 2007

Apolipoprotein E genotypes in mild cognitive impairment subtypes

scientific article published in December 2006

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

scientific article

Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

scientific article

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

scientific article

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

scientific article (publication date: October 2002)

Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene

scientific article published on 01 January 1997

Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization.

scientific article

Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction

article

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

scientific article published on March 1996

Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease

scientific article

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

scientific article published on 06 March 2012

Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients.

scientific article

Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects

article published in 2005

Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants

scientific article published on 27 March 2003

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

article

Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

scientific article (publication date: 2003)

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

scientific article

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

article published in 2012

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

Atrioventricular Canal Without Down Syndrome Associated With Additional Cardiac and Noncardiac Anomalies

scientific article published on 01 July 1990

Atrioventricular canal associated with trisomy 9

scientific article published on 01 December 1989

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

scientific article published on 23 May 2018

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536

article

Atrioventricular canal defect in patients with RASopathies

scientific article published on 11 July 2012

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

scientific article published on 01 December 1999

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

scientific article published on October 2006

Authors' response to J Thomas: "If not parthenogenesis why not 'in vivo embryogenesis' with Mary as a birth mother".

scientific article published on 27 October 2014

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

scientific article published on July 2004

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

article by M.C. Digilio et al published 1 November 2008 in American Journal of Medical Genetics

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

article

Azoospermia in a man with a constitutional ring 22 chromosome

scientific article published on 10 August 2010

BONE ABNORMALITIES AND XYY SYNDROME

scientific article published in The Lancet

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

scientific article

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Behavioral phenotype in Costello syndrome with atypical mutation: a case report

scientific article published on 4 November 2014

Benchmarks for cystic fibrosis carrier screening: a European consensus document

scientific article published on 02 April 2010

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

scientific article

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

article

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

scientific article published on 3 September 2015

CHROMOSOMES, LEUKÆMIA, AND OCCUPATIONAL EXPOSURE TO LEUKÆMOGENIC AGENTS

scientific article published in The Lancet

COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia

article

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

article

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

article

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

scientific article published on 01 July 1999

Can modern biology interpret the mystery of the birth of Christ?

scientific article published on 30 April 2014

Cardiovascular malformations in Adams-Oliver syndrome

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.

scientific article

Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p

scientific article published on 01 January 1976

Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression

scientific article published on 29 September 2009

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

scientific article published in March 1994

Chromosome 22q11 microdeletion and isolated conotruncal heart defects

scientific article (publication date: 1997)

Chromosome pattern, occupation, and clinical features in patients with acute nonlymphocytic leukemia.

scientific article published in November 1981

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

scientific article

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

article

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

scientific article published on 8 November 2007

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome) ⬇️

scientific article published on April 1, 2005

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

scientific article published in September 2006

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

scientific article published on 4 April 2017

Clinical utility gene card for: Joubert syndrome

scientific article published on 30 March 2011

Clinical utility gene card for: Joubert syndrome--update 2013.

scientific article published on 13 February 2013

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome

scientific article published on 7 September 2011

Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)

scientific article

Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster

scientific article published in January 2001

Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene

article

Combined Test for UGT1A1 –3279T→G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients

article

Comment on the paper of Qumsiyeh et al. (Am J Med Genet 41: 99-101, 1991)

article

Common fragile sites: Their prevalence in subjects with constitutional and acquired chromosomal instability

scientific article published on 01 June 1987

Common variants at five new loci associated with early-onset inflammatory bowel disease

scientific article

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

scientific article

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes

article

Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

scientific article

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.

scientific article published in October 2006

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome

scientific article published on July 2009

Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies

article

Confirmation of the mandibulofacial dysostosis, toriello type

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype

scientific article published on 01 September 1994

Congenital heart defect in sibs with discordant karyotypes ⬇️

scientific article published on 01 November 1998

Congenital heart defects in Kabuki syndrome.

scientific article

Congenital heart defects in genetics syndromes.

scientific article published on 30 September 2015

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

scientific article published in July 2008

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

scientific article published on 25 December 2012

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

scientific article (publication date: December 1999)

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

scientific article published on 6 August 2014

Conotruncal heart defects and chromosome 22q11 microdeletion

scientific article published on 01 April 1997

Contribution of IBD5 Locus to Clinical Features of IBD Patients

scientific article published on 01 February 2006

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

scientific article

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

scientific article

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

scientific article published in September 2003

Costello syndrome: clinical diagnosis in the first year of life

article by M. Cristina Digilio et al published 29 August 2007 in European Journal of Pediatrics

Cutis laxa in Kabuki make-up syndrome

scientific article published in November 2005

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

scientific article

Cytogenetic Studies in Acute Leukaemias. Prognostic Implications of Chromosome Imbalances ⬇️

scientific article published on January 1, 1977

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

article

Cytogenetic findings in acute promyelocytic leukaemia. A report of 25 cases

scientific article published on 01 August 1984

Cytogenetics of Mendelian mutations associated with cancer proneness

scientific article published on 01 May 1987

DERMATOGLYPHICS IN LARSEN'S SYNDROME

scientific article published in The Lancet

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations

scientific article published on January 2006

DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies

scientific article published on 01 April 1996

DOWN SYNDROME AND THYROID FUNCTION

scientific article published in The Lancet

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

scientific article published on 19 October 2010

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

scientific article published in January 1995

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

article

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

scientific article published on January 2009

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11

scientific article published on 01 October 2000

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas

scientific article published on 01 February 2007

Deletion 22q11 and isolated congenital heart disease

Deletion 22q11 in patients with interrupted aortic arch

scientific article published on 01 August 1999

Deletion 2p15-16.1 syndrome: Case report and review

article

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

scientific article

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article published in 1996

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

scientific article published on 01 January 1996

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

scientific article

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

scientific article published on 01 September 1977

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

scientific article

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

scientific article published in June 1990

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias

scientific article published in July 2004

Dermatoglyphics and chromosomes in cat-eye syndrome.

scientific article

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

scientific article

Design of novel three-phase PCL/TZ–HA biomaterials for use in bone regeneration applications

scientific article published on 02 July 2010

Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family

article

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

scientific article published on 01 May 1998

Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay

scientific article published on 01 January 1996

Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients

scientific article published on February 2008

Di George anomaly with atrioventricular canal

scientific article published on 01 January 1991

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

article

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

article

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization

scientific article published on April 1996

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

scientific article published on 23 January 2014

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

scientific article

Diffuse coronary dilation in a young patient with LEOPARD syndrome

scientific article published on 10 August 2006

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

scientific article published on 01 March 1995

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

scientific article published on 01 August 1996

Discrete membranous subaortic stenosis in siblings

scientific article published on 01 July 1993

Discrete subaortic stenosis

scientific article published on 01 June 1994

Disomy of distal Xq in males: case report and overview

scientific article published in July 2004

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates

scientific article

Duplication 18q21.31-q22.2.

scientific article published in February 2007

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

scientific article published on 8 December 2009

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

scientific article published in July 2015

Early-life gut microbiota under physiological and pathological conditions: the central role of combined meta-omics-based approaches.

scientific article

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

scientific article published on 03 August 2011

Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease

scientific article published on September 2009

Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes

scientific article published on 01 January 1985

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

scientific article (publication date: March 2003)

Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks

scientific article published on 28 March 2008

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

scholarly article published in Nature Genetics

Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study.

scientific article

Erythrocytes-Mediated Delivery of Dexamethasone in Steroid-Dependent IBD Patients-A Pilot Uncontrolled Study

scientific article published on 01 June 2005

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

scientific article published on 2 October 2012

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma

scientific article published in February 2004

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

scientific article published on January 2000

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

scientific article published on December 1999

Evidence for localisation of genes for human alpha-globin on the long arm of chromosome 4.

scientific article published in January 1977

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

scientific article published on 17 March 2009

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

scientific article published on 01 December 1994

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

article

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

scientific article published on 24 August 2013

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

scientific article published on 13 September 2017

Expanding the phenotype of duplication of the Rubinsteinâ Taybi region on 16p13.3

scientific article published on 01 December 2009

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

scientific article published on 7 May 2017

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

scientific article published in December 1999

Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.

scientific article

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

scientific article published on 01 January 1981

Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels

scientific article published on 01 January 1997

Expression study of survival motor neuron gene in human fetal tissues

scientific article published in June 1997

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

article

Extrachromosomal genes: a powerful tool in gene targeting approaches

scientific article (publication date: June 2002)

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

scientific article published on 12 April 2011

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

scientific article published on 01 February 1993

Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes

scientific article published on 01 January 1983

Familial Recurrence Risks of Congenital Heart Defects

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

scientific article published in February 2004

Familial aplasia cutis congenita and coarctation of the aorta

Familial atrioventricular septal defect: possible genetic mechanism

scientific article

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

scientific article

Familial mandibuloacral dysplasia: Report of an additional Italian patient

article

Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.

scientific article

Familial recurrence of congenital heart disease: an overview and review of the literature.

scientific article published on 8 November 2006

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

scientific article published on 01 August 2005

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

article by M. Cristina Digilio et al published 2005 in American Journal of Medical Genetics

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal

scientific article published on 01 May 2000

Familial recurrence of transposition of the great arteries ⬇️

scientific article published on May 30, 1998

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

article

Familial transposition of the great arteries caused by multiple mutations in laterality genes

article

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

scientific article published in December 2004

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

scientific article published on 01 March 1995

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

scientific article published on 01 May 2001

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature

scientific article published on 13 December 2017

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency

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First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

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First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

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First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

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Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

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Foodomics as part of the host-microbiota-exposome interplay

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Founder Effects forATMGene Mutations in Italian Ataxia Telangiectasia Families

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Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-clichloro-platinum (II) in Fanconi anemia lymphocyte cultures

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Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

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From Genetic Research into Clinical Practice ⬇️

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Functional analysis of splicing mutations in exon 7 of NF1 gene

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Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

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GIGYF2 variants are not associated with Parkinson's disease in Italy

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

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Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts

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Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.

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Genetic Insight Into the Pathogenesis of Nonalcoholic Fatty Liver Disease

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Genetic Susceptibility to Nonsteroidal Anti-Inflammatory Drug–Related Gastroduodenal Bleeding: Role of Cytochrome P450 2C9 Polymorphisms

scientific article published on 21 May 2007

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study

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Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

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Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

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Genetic testing for paediatric neurological disorders

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Genetic testing in Italy, year 2004

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Genetically determined interaction between the dopamine transporter and the D2 receptor on prefronto-striatal activity and volume in humans.

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Genetics

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Genetics of Ebstein Anomaly

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Genetics of Pediatric Obesity ⬇️

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Genetics of aneuoploidy in man reconsidered by banding studies

scientific article published on July 1, 1978

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications

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Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy

scientific article

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

scientific article published on 29 July 2009

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

scientific article published on October 2017

Genomic instability and increased expression of BUB1B and MAD2L1 genes in ductal breast carcinoma

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Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity

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Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility

scientific article published in February 1999

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

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Genotypes and phenotypes of Joubert syndrome and related disorders

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Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

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Genotyping of spinal muscular atrophy families with linked DNA probes

scientific article published on 01 December 1992

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

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Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

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Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

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Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

scientific article published on 01 June 2010

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

scientific article published on October 2009

Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes

scientific article published in October 2007

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

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Guidelines for 22q11 deletion screening of patients with conotruncal defects

scientific article published on 01 May 1999

Guidelines for the appropriate use of genetic tests in infertile couples.

scientific article published in May 2002

Gut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood-Adulthood Transition

scientific article published on 21 October 2015

Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns.

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Gut Microbiota Profiling and Gut-Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections

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Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta-omics-based approach

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HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

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Hand dermatoglyphics in trisomy 4p

scientific article published on 01 December 1976

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

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Hereditary early-onset Parkinson's disease caused by mutations in PINK1

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Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

Heterotaxy with left atrial isomerism in a patient with deletion 18p

scientific article published on 01 September 2000

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

scientific article

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

High conservation of the trinucleotide [CTG]n repeat at the myotonic dystrophy locus in nonhuman primates

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

scientific article published on 12 May 2010

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.

scientific article published in July 2004

High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas

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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

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How many breaks do we need to CATCH on 22q11?

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Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

scientific article published in January 1998

Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X

scientific article (publication date: 30 November 1993)

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

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Hyperthrophic cardiomyopathy and thePTPN11 gene

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Hypochondrogenesis

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Hypopigmented skin patches in 17q21.31 microdeletion syndrome

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Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

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Hypoplastic left heart syndrome and 21q22.3 deletion

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IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants.

scientific article published on 26 June 2009

Identification of 4 ataxia telangiectasia cell lines hypersensitive to γ-irradiation but not to hydrogen peroxide

scientific article published on 01 September 1989

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

scientific article (publication date: March 2002)

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

scientific article published in November 2004

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients

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Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients

scientific article published on 01 September 1993

Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography.

scientific article published on July 2004

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

scientific article published on 26 September 2014

Inactive normal X in a female leukaemic patient with an acquired X/autosome translocation

scientific article published on April 1979

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

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Increased Erythrocyte Adenosine Deaminase Activity without Haemolytic Anaemia

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Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).

scientific article published on January 1979

Increased activity of glutathione S-transferase and fast decay of reduced glutathione in Fanconi's anemia erythrocytes

scientific article published on 01 January 1984

Increased rate of superoxide ion generation in Fanconi anemia erythrocytes

scientific article published in July 1985

Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

scientific article published on 01 January 2000

Infantile cortical hyperostosis and COL1A1 mutation in four generations

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Infectious Hepatitis: A Possible Mitogenic Factor ⬇️

scientific article published on February 1, 1971

Inosine-containing primers in human papillomavirus detection by polymerase chain reaction

scientific article published on 01 January 1992

Interaction between PPARgamma2 variants and gender on the modulation of body weight.

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Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

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Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

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Interstitial deletion 13q syndromes: a report on two unrelated patients

scientific article published in January 1979

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

scientific article published on 01 January 1993

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

scientific article published on 10 February 2018

Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit

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Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome

scientific article published in July 1999

Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene

scientific article published on September 1993

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

scientific article published on 16 August 2013

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

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Joubert Syndrome and related disorders

scientific article

Joubert syndrome and related disorders

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Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

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KBG syndrome

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KBG syndrome in a cohort of Italian patients

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Kabuki syndrome: clinical and molecular diagnosis in the first year of life

scientific article published on 03 October 2014

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

scientific article

Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.

scientific article

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

scientific article (publication date: 16 November 2001)

LEOPARD syndrome: clinical diagnosis in the first year of life

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LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

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Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

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Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

scientific article published on 2 July 2015

Leopard syndrome

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Letter: Au-SH antigen and lymphocyte transformation

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Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

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Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations

scientific article published in September 1989

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

scientific article published on 01 January 1983

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

scientific article

Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients

scientific article published on 01 July 2004

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

scientific article published in February 2011

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

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Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

scientific article published on 01 May 1994

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

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Mapping a dominant form of multinodular goiter to chromosome Xp22

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Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

scientific article published in September 2001

Mating between two balanced translocation carriers in two unrelated families

scientific article published on 01 January 1983

Mediterranean diet and health: food effects on gut microbiota and disease control

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Meiotic drive at the myotonic dystrophy locus

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Meta-omic platforms to assist in the understanding of NAFLD gut microbiota alterations: tools and applications

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Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones

scientific article (publication date: 30 June 2008)

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

scientific article

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

scientific article published in June 2015

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

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Molecular characterization of the H319Q galactosemia mutation.

scientific article

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

scientific article published in June 2003

Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure

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Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

scientific article published on January 2010

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

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Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux

scientific article

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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Mutation screening of the DYT6/THAP1 gene in Italy

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

scientific article published on 9 June 2011

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

scientific article published in August 2004

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

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Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

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Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.

scientific article published in December 2004

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

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NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

scientific article published in February 2005

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

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Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

scientific article published on 20 July 2012

Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome

scientific article published in November 2000

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

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Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

scientific article published on 27 February 2014

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

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Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease

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Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.

scientific article published in February 1996

Noonan syndrome with cardiac left-sided obstructive lesions

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Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

scientific article published on 01 December 1995

Normal cognitive functions in joubert syndrome.

scientific article published in December 2009

North Eurasian origin of the myotonic dystrophy mutation

scientific article published on 01 January 1994

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

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Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

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Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.

scientific article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

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Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

scientific article

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

scientific article published on 01 December 2011

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

scientific article

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

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Obituary of Dr. Angelo di George

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Olfactory dysfunction in Parkinsonism caused byPINK1mutations

scholarly article by Alessandro Ferraris et al published 2009 in Movement Disorders

Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.

scientific article published in April 1994

Orphanet Journal of Rare Diseases: Launch Editorial.

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Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

scientific article published on 3 October 2012

PARK6 is a common cause of familial parkinsonism

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PARK6-linked parkinsonism occurs in several European families

scientific article published in January 2002

PCR amplification and silver stain detection of genomic DNA fragments

scientific article published on 01 September 1989

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies

scientific article published on 01 December 1993

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

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PINK1 mutations are associated with sporadic early-onset parkinsonism

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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

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PRENATAL DIAGNOSIS OF TRIOSE PHOSPHATE ISOMERASE DEFICIENCY

scientific article published in The Lancet

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

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Pachydermoperiostosis: an update

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Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

scientific article published on 01 November 1993

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

article

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

scientific article published on 01 July 1996

Partial correction of chromosome instability in Fanconi anemia by desferrioxamine

scientific article published in August 1989

Partial trisomy 16q resulting from maternal translocation

scientific article published on June 19, 1979

Pathologic features in two siblings with the Pena-Shokeir I syndrome

scientific article published on 01 May 1987

Percentiles of serum uric acid and cardiometabolic abnormalities in obese Italian children and adolescents

scientific article published on 03 January 2017

Pericentric inversion of chromosome 19

scientific article published on 01 November 1986

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

scientific article published on 01 March 2009

Phylogenetic and Metabolic Tracking of Gut Microbiota during Perinatal Development

scientific article published on 2 September 2015

Pigmented villonodular synovitis in a patient with Noonan syndrome andSOS1gene mutation

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Plasmid DNA and low-frequency electromagnetic fields

scientific article published on 01 January 1993

Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.

scientific article

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

article

Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease

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Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome)

scientific article published on 01 November 2003

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

scientific article published on 01 November 1996

Premature centromere splitting in a presumptive mild form of Roberts syndrome

scientific article published on 01 January 1984

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk

scientific article published on 01 April 1994

Prenatal diagnosis of a fetus with an extra idic(X)(q27)

scientific article published on 01 April 1989

Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

scientific article published on 01 February 2000

Prenatal prediction of duplication 10q24 leads to qter by gene dosage of GOT1 on uncultured amniotic cells

scientific article published on 01 October 1983

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

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Primary hypertrophic osteoarthropathy: A new family supporting genetic heterogeneity

scientific article published on 01 March 2011

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

scientific article published in September 2002

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

Protein carbonyl group content in patients affected by familiar chronic nail candidiasis

scientific article published on August 2003

Protocol for prenatal diagnosis of cystic fibrosis based on studies of alkaline phosphatase isoenzymes

scientific article published on 01 August 1988

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

scientific article published on 01 January 2005

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

scientific article published in October 2002

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

scientific article published on September 2009

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A

scientific article published on July 2008

RASopathies: Clinical Diagnosis in the First Year of Life

scientific article published on 14 September 2011

RDDR: a dysmorphology diagnostic network for newborns in central Italy.

scientific article published on October 2012

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

scientific article published on 28 June 2008

Radiographic findings in Wiedemann-Rautenstrauch syndrome

scientific article published in January 1992

Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction.

scientific article published in October 1990

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

scientific article published in June 2002

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

scientific article published on 07 January 2016

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

scientific article published in February 2007

Reassessment of the 12q15 deletion syndrome critical region

scientific article published on 31 January 2017

Recombinant CTFR detection in CF tracheal epithelial cells following in vitro liposomeme-mediated gene transfer.

scientific article published in July 1997

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

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Recurrent triploidy of maternal origin

Red blood cell adenine nucleotides abnormalities in down syndrome

scientific article published on 01 January 1985

Red blood cell hexokinase in Fanconi's anemia

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Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

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Reference ranges of HOMA-IR in normal-weight and obese young Caucasians

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Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

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Regional mapping of the locus for hexokinase-1 (HK1)

scientific article published on 01 January 1982

Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.

scientific article published in May 2006

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

Reply

Reply

Reply to letter by M. Poot and H. Hoehn

Report of a third family with Oliver syndrome

article published in 2005

Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

scientific article published in April 2005

Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene

scientific article published in January 2002

Reticulate vascular lesions and a large head

scientific article published in September 2007

Ring chromosome 21 in healthy persons: different consequencies in females and in males

scientific article published on 01 July 1986

Ring chromosomes and leukaemia

scientific article published in November 1975

Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal

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Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death.

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Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

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SCHIZOPHRENIA AND LYMPHOCYTE MITOTIC CAPACITY

scientific article published in The Lancet

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article published in October 2010

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

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Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

scientific article published on 17 March 2011

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

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Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

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Search for 22q11 deletion in non-syndromic conotruncal cardiac defects

scientific article published on 01 July 1996

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

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Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

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Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells

scientific article published in January 2007

Sequence-specific modification of genomic DNA by small DNA fragments

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Sequence-specific modification of genomic DNA by small DNA fragments

Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis.

scientific article published in November 2004

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

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Severe truncal valve dysplasia: association with DiGeorge syndrome?

scientific article published on 01 September 1998

Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome

scientific article published on April 2008

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management

scientific article published on 31 August 2007

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

article

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

scientific article published on 01 January 1995

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

scientific article published on 01 August 1995

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

scientific article

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

scientific article

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles

scientific article

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

scientific article

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study ⬇️

scientific article published on October 1, 1997

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

article

Spontaneous mitoses in direct preparations from peripheral blood of schizophrenic patients

scientific article published on 01 May 1969

Spontaneous regression of exostoses: Two case reports

scientific article published on 01 January 1995

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

scientific article published on 21 December 2015

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

scientific article

Study of the effects on DNA of electromagnetic fields using clamped homogeneous electric field gel electrophoresis

scientific article published on 01 January 1991

Survey of medical genetic services in Italy: year 2011.

scientific article

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

scientific article

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

scientific article published in December 2007

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

scientific article

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

scientific article published on 01 July 2000

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

scientific article

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

scientific article published in July 2010

Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments

scientific article published on February 2001

Tetraploidy (92,XXYY) in an acute nonlymphocytic leukemia (M1) patient following autologous bone marrow transplantation

scientific article published on November 1988

The 18ph+ chromosome heteromorphism

scientific article published on 01 November 1994

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

scientific article

The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism

scientific article

The Multidimensional Prognostic Index (MPI), based on a comprehensive geriatric assessment predicts short- and long-term mortality in hospitalized older patients with dementia

scientific article

The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

scientific article published in June 2005

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

scientific article

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria

scientific article published on 10 June 2011

The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites

scientific article published in January 2007

The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes

scientific article

The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance

scientific article published on 19 May 2004

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

article published in 2011

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

scientific article

The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.

scientific article published on January 1993

The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes

scientific article published on 01 December 1985

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

scientific article

The heart and shell. Anatomical and genetic similarities

scientific article published on 01 April 2011

The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood

scientific article

The internet user profile of Italian families of patients with rare diseases: a web survey.

scientific article published on 16 May 2013

The link between cytogenetics and mendelism

scientific article

The missing ApoE allele

scientific article published on 22 January 2007

The multidimensional prognostic index predicts short- and long-term mortality in hospitalized geriatric patients with pneumonia

scientific article

The phenotype of partial dup(7q) reconsidered: a report of five new cases ⬇️

scientific article published on 01 July 1988

The policy of public health genomics in Italy

article

The possibility of prenatal diagnosis by gene dosage: confirmation of duplication 10q24 to qter from GOT-1 activity in fetal erythrocytes

scientific article published on 01 July 1981

The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction

scientific article published in July 1992

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

scientific article published on January 1975

The up-to-date molecular genetics of cystic fibrosis

scientific article published on January 1994

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

article

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

article

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

scientific article published in April 2010

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

scientific article published in December 2009

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease

scientific article published in February 2015

Transposition of the great arteries associated with deletion of chromosome 22q11

scientific article published on 01 January 1995

Tricuspid atresia and 22q11 deletion

scientific article published on 01 October 1997

Trisomy 2q ⬇️

scientific article published on January 1, 1975

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development

scientific article

Turner's syndrome with atrioventricular canal

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

scientific article published in July 2005

Two mosaic-YY males carrying asymmetric Y chromosomes

scientific article published on 01 January 1997

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients.

scientific article published on 11 December 2007

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?

scientific article published on 01 July 1999

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

scientific article

ULTRASOUND AND MOLECULAR MID–TRIMESTER PRENATAL DIAGNOSIS OFDE NOVO ACHONDROPLASIA

scientific article published on 01 August 1996

URÆMIA AND MAST-CELL PROLIFERATION

scientific article published in The Lancet

Ultrastructural and biological characterization of human choroid cell cultures transformed by Simian Virus 40.

scientific article published in June 1983

Umbilical cord pseudocyst in trisomy 13

scientific article published on 01 June 1989

Understanding probiotics' role in allergic children: the clue of gut microbiota profiling

scientific article published on 7 August 2015

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

article

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study

scientific article published in July 2004

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies

scientific article published on 01 February 2002

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

scientific article published in The Lancet

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart

scientific article published on 01 August 2010

ZFPM2/FOG2 andHEY2 genes analysis in nonsyndromic tricuspid atresia

article

[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia]

scientific article published on 01 January 1983

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

scientific article

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

scientific article published on 5 November 2014

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