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List of works by Roberto Giorda

20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb

scientific article published on 01 October 2002

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

scientific article published on 18 October 2012

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

scientific article

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

scientific article

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

scientific article published in May 2005

A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.

scientific article published in January 2006

A case-control and family-based association study of the 5-HTTLPR in pediatric-onset depressive disorders

scientific article

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

scientific article published on 25 June 2011

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

scientific article

A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.

scientific article published in April 2005

A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.

scientific article published on 6 May 2007

A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population.

scientific article published in January 2004

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

scientific article

A new xenogeneic radiation chimera (hamster-to-rat)

scientific article published on 01 May 1994

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

scientific article published in July 2009

A novel HLA-DR4 haplotype generated by a rare recombinational event between DRB1 and DQA1 loci

scientific article published on 01 January 1992

A novel familial MECP2 mutation in a young boy: clinical and molecular findings

scientific article published in September 2006

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

An Assessment of Gene-by-Environment Interactions in Developmental Dyslexia-Related Phenotypes

article

An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes

scientific article published on 24 November 2012

An assessment of transmission disequilibrium between quantitative measures of childhood problem behaviors and DRD2/Taql and DRD4/48bp-repeat polymorphisms.

scientific article

Analysis of specific mRNA destabilization during Dictyostelium development

scientific article published on 01 July 1989

Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene

scientific article

Association of short-term memory with a variant within DYX1C1 in developmental dyslexia

scientific article

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

scientific article

CNGA3 mutations in hereditary cone photoreceptor disorders

scientific article

Case report: essential iris atrophy in the Williams-Beuren syndrome

scientific article published on 01 November 1998

Cerebral responses to emotional expressions and the development of social anxiety disorder: a preliminary longitudinal study.

scientific article published on 2 September 2011

Characterization of genes that are developmentally regulated during Dictyostelium discoideum spore germination

scientific article published on 01 January 1988

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

scientific article published on 28 September 2016

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

scientific article published on 01 December 2001

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

scientific article published on 30 September 2011

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

scientific article

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant

scientific article published on 08 December 2007

Constitutive expression and role of the TNF family ligands in apoptotic killing of tumor cells by human NK cells

scientific article published on 01 November 1999

DCDC2 genetic variants and susceptibility to developmental dyslexia

scientific article

DNA methylation regulates tissue-specific expression of Shank3.

scientific article

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

scientific article (publication date: 2012)

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

scientific article published in September 2011

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

scientific article published in October 2007

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype

scientific article published on 23 July 2008

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

scientific article published on 30 May 2009

Dinucleotide repeat polymorphism at the DXS1146 locus

scientific article

Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci

scientific article

Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?

scientific article published on 15 November 2005

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

scientific article

Drug development and testing in relation to cell migration and chimerism.

scientific article

Effect of the catechol-O-methyltransferase val(158)met genotype on children's early phases of facial stimuli processing.

scientific article published on 29 August 2006

Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence.

scientific article

Effects of Serotonin Transporter Promoter Genotype on Platelet Serotonin Transporter Functionality in Depressed Children and Adolescents

scientific article published on 01 November 1999

From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growth.

scientific article published on 5 January 2018

Full length beta chain cDNAs of DQw9 and DQw8 molecules encode proteins that differ only at amino acid 57.

scientific article published in January 1991

GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia

scientific article published in February 2015

Genomic structure and strain-specific expression of the natural killer cell receptor NKR-P1

scientific article

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

scientific article published on 26 April 2014

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

scientific article

Glutamic acid decarboxylase expression in islets and brain

scientific article published in December 1991

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

scientific article

Influence of the OPRM1 gene polymorphism upon children's degree of withdrawal and brain activation in response to facial expressions.

scientific article published on 12 May 2011

Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions

scientific article published in January 2005

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

scientific article published on 01 August 2000

Inverted duplications: how many of them are mosaic?

scientific article published on September 2004

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

scientific article published on 28 October 2005

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

scientific article published on 17 October 2012

Lyophilization as a method to store samples of whole blood

scientific article published on 01 July 1993

Maternal Sensitivity Buffers the Association between SLC6A4 Methylation and Socio-Emotional Stress Response in 3-Month-Old Full Term, but not very Preterm Infants

scientific article published on 13 September 2017

Microsatellite repeat polymorphism at the D13S197 locus

scientific article published in March 1993

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

scientific article published on 30 August 2019

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

scientific article published on 27 February 2008

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

scientific article published in November 2005

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Molecular organization of developmentally regulated Dictyostelium discoideum ubiquitin cDNAs

scientific article

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

scientific article published on 15 October 2008

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

scientific article

No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes

scientific article published in August 2003

Novel epilepsy phenotype associated to a known SCN8A mutation

scientific article published on 04 March 2019

Nucleotide sequences of Dictyostelium discoideum developmentally regulated cDNAs rich in (AAC) imply proteins that contain clusters of asparagine, glutamine, or threonine.

scientific article

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

scientific article published on 25 November 2010

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing

article

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

scientific article published in July 2007

Pain exposure associates with telomere length erosion in very preterm infants

scientific article published on 20 January 2018

Partial deletion of DEPDC5 in a child with focal epilepsy.

scientific article

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

scientific article published on 13 December 2011

Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia.

scientific article

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

scientific article published on 01 May 2001

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

scientific article published on 19 December 2020

Rapid detection of IDDM susceptibility with HLA-DQ beta-alleles as markers

scientific article published on 01 December 1989

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

scientific article

Rat class III Fc gamma receptor isoforms differ in IgG subclass-binding specificity and fail to associate productively with rat CD3 zeta.

scientific article

Reciprocal translocations: a trap for cytogenetists?

scientific article published on 23 July 2005

Refining the phenotype associated with MEF2C haploinsufficiency.

scientific article published in November 2010

SLC6A4 methylation as an epigenetic marker of life adversity exposures in humans: A systematic review of literature

scientific article published on 23 August 2016

SLC6A4 promoter region methylation and socio-emotional stress response in very preterm and full-term infants

scientific article published on 6 July 2016

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

scientific article published in June 2004

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

Socioeconomic status mediates the genetic contribution of the dopamine receptor D4 and serotonin transporter linked promoter region repeat polymorphisms to externalization in preadolescence

scientific article published in January 2007

Subtelomeric trisomy 21q: A new benign chromosomal variant

scientific article published on 10 September 2006

Telomere Length in Preterm Infants: A Promising Biomarker of Early Adversity and Care in the Neonatal Intensive Care Unit?

scientific article published on 31 October 2017

Telomere length and salivary cortisol stress reactivity in very preterm infants

scientific article published on 07 December 2018

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014

The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects

scientific article (publication date: June 2003)

The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.

scientific article

The Italian preadolescent mental health project (PrISMA): rationale and methods.

scientific article

The Mediation Role of Dynamic Multisensory Processing Using Molecular Genetic Data in Dyslexia

scientific article published on 16 December 2020

The T-cell receptor V beta gene usage in tumor-infiltrating lymphocytes and blood of patients with hepatocellular carcinoma

scientific article published in November 1992

The cytoplasmic domain of rat NKR-P1 receptor interacts with the N-terminal domain of p56(lck) via cysteine residues.

scientific article published on January 1997

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects

scientific article published on 24 May 2018

The influence of family structure, the TPH2 G-703T and the 5-HTTLPR serotonergic genes upon affective problems in children aged 10-14 years.

scientific article

The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effects

scientific article published on 3 August 2017

The role played by the interaction between genetic factors and attachment in the stress response in infancy.

scientific article published on 22 July 2009

Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.

scientific article published on 27 March 2019

Thy cytoplamic domain of rat NKR-P1 receptor interacts with the N-terminal domain of p56(lck) via cysteine residues

scientific article published on 01 March 1997

Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

article

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

scientific article published in May 2007

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

scientific article published in July 2003

Very preterm birth is associated with PLAGL1 gene hypomethylation at birth and discharge

article

XX males SRY negative: a confirmed cause of infertility

scientific article

mRNA stabilization controls the expression of a class of developmentally regulated genes in Dictyostelium discoideum.

scientific article published in September 1985

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