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List of works by Giuseppe Novelli

"The Linosa Study": epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate

scientific article

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

scientific article published on 01 August 1993

3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population

article

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

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 fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.

scientific article published on October 2010

A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice

scientific article published on 01 July 2006

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

scientific article published on 01 December 2008

A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.

scientific article

A pharmacogenetics study in Mozambican patients treated with nevirapine: full resequencing of TRAF3IP2 gene shows a novel association with SJS/TEN susceptibility

scientific article published on 12 March 2015

A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.

scientific article published on 29 June 2009

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

ABCC10 rs2125739 polymorphism and nevirapine-induced hepatotoxicity: lack of association in a population from Mozambique

scientific article published in January 2013

ATG16L1 Ala197Thr Is Not Associated With Susceptibility to Crohn’s Disease or With Phenotype in an Italian Population

article

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis

scientific article published on 01 November 2014

Advances in the search for psoriasis susceptibility genes.

scientific article

Age-related macular degeneration: insights into inflammatory genes

scientific article

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.

scientific article published in November 2007

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

scientific article published on 26 July 2005

Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment.

scientific article

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

scientific article published on 20 April 2005

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

scientific article published on 02 June 2020

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications

scientific article published on 03 July 2020

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

scientific article published on 11 September 2020

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 elastin gene in 60 patients with clinical diagnosis of Williams syndrome

scientific article published in October 1995

Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells

scientific article

Anti-gene peptide nucleic acid targeted to proviral HIV-1 DNA inhibits in vitro HIV-1 replication

scientific article published on 7 January 2005

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death

scientific article

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

scientific article (publication date: October 2002)

Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study

scientific article

Association between OLR1 K167N SNP and intima media thickness of the common carotid artery in the general population

scientific article

Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.

scientific article

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 the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.

scientific article

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

scientific article

Atypical progeroid syndrome due to heterozygous missense LMNA mutations

scientific article published on 29 October 2009

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria.

scientific article published on 19 October 2011

Awake thoracoscopic biopsy of interstitial lung disease

scientific article

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published in May 2003

Biomarkers in COPD.

scientific article published on 13 May 2010

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

scientific article published on 11 March 2010

CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease

scientific article published in March 2004

CD4 intragenic SNPs associate with HIV-2 plasma viral load and CD4 count in a community-based study from Guinea-Bissau, West Africa

scientific article published on January 2011

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

scientific article published on 27 August 2020

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

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis

scientific article published on 02 June 2020

Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse models

scientific article published on 01 October 2001

Cellular genetic therapy.

scientific article

Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)

scientific article published on January 2008

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

scientific article

Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient

scientific article published on June 2011

Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.

scientific article

Characterization of gene expression induced by RTN-1C in human neuroblastoma cells and in mouse brain

scientific article published on 12 August 2010

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

scientific article

Cholesterol-lowering drugs inhibit lectin-like oxidized low-density lipoprotein-1 receptor function by membrane raft disruption

scientific article published on 8 May 2012

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

scientific article

Co-Localization of Susceptibility Loci for Psoriasis (PSORS4) and Atopic Dermatitis (ATOD2) on Human Chromosome 1q21

scientific article published on 15 August 2006

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

scientific article published on 10 March 2012

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes

article

Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma

scientific article

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

scientific journal article

Compound Heterozygosity for Mutations inLMNAin a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

scientific article published on 11 September 2007

Construction and purification of pSABR 01, a pUC19-derived vector optimized for cloning full-length cDNA.

scientific article

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article published on 16 February 2017

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

scientific article published on January 1995

Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia

scientific article

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

scientific article published on 12 March 2012

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

scientific article published in January 1995

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

article

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 LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

scientific article published on July 2011

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

scientific article published on 8 April 2010

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

scientific article published on 2 April 2015

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

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 in laboratory diagnosis of hereditary angioedema

scientific article published on 19 July 2007

Design of a novel LOX-1 receptor antagonist mimicking the natural substrate

scientific article published on 26 July 2013

Diagnosis of atypical CF: A case-report to reflect

scientific article published on 03 January 2008

Diagnostic CFTR mutation analysis.

scientific article published on February 2008

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

scientific article published on November 1999

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

scientific article

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

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

scientific article

Downregulation of Circulating Hsa-miR-200c-3p Correlates with Dyslipidemia in Patients with Stable Coronary Artery Disease

scientific article published in 2023

Drugs affecting prelamin A processing: effects on heterochromatin organization

scientific article

Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development

scientific article published on 19 January 2007

EPHX1 Polymorphisms Are Not Associated With Warfarin Response in an Italian Population

article

Early subclinical cochlear dysfunction in myotonic dystrophy type 1.

scientific article published on 21 July 2011

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

scientific article

Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines.

scientific article

Elbow deformities in a patient with mandibuloacral dysplasia type A

scientific article published on 01 November 2010

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

article

Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia.

scientific article published on 5 June 2014

Erectile dysfunction in myotonic dystrophy type 1 (DM1).

scientific article published on 27 April 2009

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

scientific article published on December 1999

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

article

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 analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues

scientific article (publication date: 17 March 2004)

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

scientific article

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

Familial mandibuloacral dysplasia: Report of an additional Italian patient

article

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

scientific article

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

scientific article published on 01 May 2001

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

scientific article published on 01 June 1994

Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice.

scientific article published on 15 April 2008

Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.

scientific article published on 17 April 2009

Frequency assessment of 25 SNPs in five different populations

scientific article published on 20 February 2010

Frequency assessment of SNPs for forensic identification in different populations.

scientific article

Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association

article

Functional characterization and expression analysis of novel alternative splicing isoforms of Olr1 gene during mouse embryogenesis

scientific article published on 2 October 2011

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

scientific article

Further evidence that polymorphisms of the OLR1 gene are associated with susceptibility to coronary artery disease and myocardial infarction

article

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.

scientific article published on January 2007

Gene expression and apoptosis induction in p53-heterozygous irradiated mice.

scientific article published on 15 September 2005

Gene expression profile study in CFTR mutated bronchial cell lines

scientific article published on December 2006

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

scientific article

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

scientific article published on 30 May 2008

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis

scientific article published on 02 December 2020

Genome medicine: gene therapy for the millennium

scientific article

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

scientific article

Genomic biomarkers, androgen pathway and prostate cancer.

scientific article published on June 2007

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

scientific article published on June 1998

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

Genomics of cardiac remodeling in angiotensin II-treated wild-type and LOX-1-deficient mice

scientific article published on 23 March 2010

Genotyping OLR1 Gene: A Genomic Biomarker for Cardiovascular Diseases

article

Gonadal mosaicism in hereditary angioedema

scientific article published on 01 July 2006

HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from Mozambique.

scientific article

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study.

scientific article

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations

scientific article published on April 2008

Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives

scientific article published on 01 October 2006

Hexokinase in human chorionic villi

scientific article published on 01 July 1985

Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

scientific article

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

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 placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

scientific article

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

scientific article published in June 2005

IPLEX Administration Improves Motor Neuron Survival and Ameliorates Motor Functions in a Severe Mouse Model of Spinal Muscular Atrophy ⬇️

scientific article published on September 25, 2012

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

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 Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

article

Identification of a novel mutation in the SRY gene in a 46, XY female patient

scientific article published on 17 April 2006

Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi

scientific article published in December 2009

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

article

In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement

scientific article published on 01 July 2005

In silico and in vitro comparative analysis to select, validate and test SNPs for human identification

scientific article

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.

scientific article

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction

scientific article published on 23 June 2005

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

article

Increased rate of superoxide ion generation in Fanconi anemia erythrocytes

scientific article published in July 1985

Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome

scientific article published on 28 June 2008

Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

scientific article published on 01 January 2000

Inhibition of HECT E3 ligases as potential therapy for COVID-19

scientific article

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

scientific article published on 01 January 1992

Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina

scientific article

Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's disease but not with phenotype in an Italian population

scientific article

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

scientific article (publication date: 15 June 2001)

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

scientific article published in July 1999

Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting

scientific article

LOX-1 Inhibition in ApoE KO Mice Using a Schizophyllan-based Antisense Oligonucleotide Therapy

scientific article published on 4 December 2012

LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies

scientific article published on 29 January 2017

LOX-1/LOXIN: the yin/yang of atheroscleorosis

scientific article published on October 2011

LOX-1: A New Target for Therapy for Cardiovascular Diseases ⬇️

scientific article published on October 1, 2011

Lamin A precursor induces barrier-to-autointegration factor nuclear localization

scientific article published in July 2010

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

scientific article published in September 1989

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

MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases

scientific article published on 15 August 2013

MCP1 SNPs and pulmonary tuberculosis in cohorts from West Africa, the USA and Argentina: lack of association or epistasis with IL12B polymorphisms

scientific article

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

scientific article

Mandibuloacral dysplasia type A in childhood.

scientific article published in October 2009

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study

scientific article published on 26 July 2007

Mapping a dominant form of multinodular goiter to chromosome Xp22

scientific article

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

scientific article published in September 2001

Mapping the future of common diseases: lessons from psoriasis.

scientific article published on January 2007

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

scientific article

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.

scientific article published on 28 September 2009

MicroRNA genetic variations: association with type 2 diabetes

scientific article published on 27 March 2013

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

scientific article

Molecular basis of disorders of human galactose metabolism: past, present, and future.

scientific article

Molecular dynamics simulation of human LOX-1 provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant

scientific article

Multilocus analysis of the fragile X syndrome

scientific article published in March 1988

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre

scientific article

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

scientific article

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

scientific article published in July 1999

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 screening, clinical features and genetic testing for galactosemia

scientific article published on 01 March 2005

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique

scientific article published in January 2010

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

scientific article published on 14 August 2006

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

scientific article published on 30 April 2010

North Eurasian origin of the myotonic dystrophy mutation

scientific article published on 01 January 1994

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome

scientific article

OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample

article

Oligonucleotide-based gene targeting approaches.

scientific article

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

scientific article

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

scientific article

Oxidized LDL receptor 1 (OLR1) as a possible link between obesity, dyslipidemia and cancer

scientific article

PCR amplification and silver stain detection of genomic DNA fragments

scientific article published on 01 September 1989

PRENATAL DIAGNOSIS OF TRIOSE PHOSPHATE ISOMERASE DEFICIENCY

scientific article published in The Lancet

PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population

article

PTX3 genetic variation and dizygotic twinning in the Gambia: could pleiotropy with innate immunity explain common dizygotic twinning in Africa?

scientific article published on 27 July 2012

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

scientific article published on 01 November 1993

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

scientific article published on 01 June 2014

Past, Present and Future of Forensic DNA Typing ⬇️

scientific article published on February 1, 2011

Paternal origin of LMNA mutations in Hutchinson-Gilford progeria

scientific article published in January 2004

Personalized genomic medicine

scientific article published on October 2010

Pharmacogenetics in cardiovascular disorders: an update on the principal drugs.

scientific article published on April 2013

Pharmacogenetics of human androgens and prostate cancer--an update.

scientific article published on April 2004

Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation

scientific article published on 01 January 2009

Pig red blood cell hexokinase: Evidence for the presence of hexokinase types II and III, and their purification and characterization

article

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

Polymorphisms in ARMS2 (LOC387715) and LOXL1 Genes in the Japanese With Age-Related Macular Degeneration

article

Population differences in allele frequencies at theOLR1locus may suggest geographic disparities in cardiovascular risk events

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

scientific article published on 01 June 1995

Precision Medicine in Non-Communicable Diseases

scientific article published on 07 February 2020

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene

scientific article published on February 2009

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

scientific article published in October 2004

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

scientific article published on 5 February 2007

Protein farnesylation and disease ⬇️

scientific article published on 04 February 2012

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.

scientific article

Putting pleiotropy and selection into context defines a new paradigm for interpreting genetic data

scientific article

R501X and 2282del4 Filaggrin Mutations Do Not Confer Susceptibility to Psoriasis and Atopic Dermatitis in Italian Patients

article

RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects

scientific article published on 15 April 2020

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

scientific article published in June 2002

Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report

scientific article published on 29 April 2009

Red blood cell adenine nucleotides abnormalities in down syndrome

scientific article published on 01 January 1985

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

scientific article

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

scientific article published on November 2005

Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells

scientific article published on 30 June 2011

Resequencing of VKORC1, CYP2C9 and CYP4F2 genes in Italian patients requiring extreme low and high warfarin doses

scientific article published on 30 May 2013

Review of nutrient actions on age-related macular degeneration

scientific article

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

scientific article

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

scientific article

Role of genetics in prevention of coronary atherosclerosis.

scientific article

Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients

article

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

article

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism

scientific article published on 01 December 2004

Selective Pseudohypertrophy of Vastus Medialis Muscles Associated With Calpain 3 Deficiency

scientific article published on 01 September 2012

Simulative and experimental investigation on the cleavage site that generates the soluble human LOX-1.

scientific article published on 7 October 2013

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

scientific article published on 13 June 2010

Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system

scientific article

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria

scientific article published on 01 May 2005

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

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

scientific article

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

scientific article published on 01 July 2000

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy

article

TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development

scientific article published on 9 July 2013

TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease.

scientific article published on 24 March 2012

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

scientific article published on February 2001

Tetravalent SARS-CoV-2 Neutralizing Antibodies Show Enhanced Potency and Resistance to Escape Mutations

scientific article published on 21 December 2020

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

scientific article published on 8 July 2008

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods ⬇️

scientific article published on June 1, 2012

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

scientific article published on January 1993

The empowerment of translational research: lessons from laminopathies.

scientific article

The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians

scientific article published in May 2011

The link between cytogenetics and mendelism

scientific article

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

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

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The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

scientific article published in May 1991

The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization

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The up-to-date molecular genetics of cystic fibrosis

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

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

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Toward the pharmacogenomics of cystic fibrosis--an update.

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Towards the pharmacogenomics of cystic fibrosis.

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Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis

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Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

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

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Tricuspid atresia and 22q11 deletion

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Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus

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Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids

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

Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population

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

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

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ULTRASOUND AND MOLECULAR MID–TRIMESTER PRENATAL DIAGNOSIS OFDE NOVO ACHONDROPLASIA

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Use of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type I

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Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).

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Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line

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Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

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WWP1 germline variants are associated with normocephalic autism spectrum disorder

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Whole genome amplification and real-time PCR in forensic casework

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

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p53 Stabilization induces cell growth inhibition and affects IGF2 pathway in response to radiotherapy in adrenocortical cancer cells

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ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

scientific article published in The Lancet

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