List of works - Roberto Giorda

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

scientific article published on 17 February 2008

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

scientific article

CNGA3 mutations in hereditary cone photoreceptor disorders

scientific article

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

scientific article

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

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

scientific article

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

scientific article

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

scientific article published in January 2005

DCDC2 genetic variants and susceptibility to developmental dyslexia

scientific article

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

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

scientific 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

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

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

scientific article

DNA methylation regulates tissue-specific expression of Shank3.

scientific article

Refining the phenotype associated with MEF2C haploinsufficiency.

scientific article published in November 2010

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

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

scientific article published in July 2003

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

scientific article

XX males SRY negative: a confirmed cause of infertility

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

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

scientific article published on 01 November 1999

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

scientific article

Reciprocal translocations: a trap for cytogenetists?

scientific article published on 23 July 2005

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

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

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

scientific article published in July 2009

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

scientific article published on 22 July 2009

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

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

scientific article

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

scientific article published on 5 November 2014

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

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

scientific article published on 24 November 2012

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article

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

scientific article published in September 1985

Molecular organization of developmentally regulated Dictyostelium discoideum ubiquitin cDNAs

scientific article

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

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

scientific article

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

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

scientific 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

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

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

scientific article

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

scientific article published on 23 August 2016

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)

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

scientific article published on 2 September 2011

List of works by Roberto Giorda

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

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

CNGA3 mutations in hereditary cone photoreceptor disorders

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

Silencer elements as possible inhibitors of pseudoexon splicing

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

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

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

DCDC2 genetic variants and susceptibility to developmental dyslexia

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

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

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

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

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

DNA methylation regulates tissue-specific expression of Shank3.

Refining the phenotype associated with MEF2C haploinsufficiency.

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

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

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

XX males SRY negative: a confirmed cause of infertility

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

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

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

Reciprocal translocations: a trap for cytogenetists?

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

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

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

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

The dystrophin gene is alternatively spliced throughout its coding sequence.

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

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

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.

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

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

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

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

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

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

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

Molecular organization of developmentally regulated Dictyostelium discoideum ubiquitin cDNAs

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

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

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

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

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

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

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

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

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

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