Lista de obras - Roberto Giorda - Dominio Público Uruguay

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2014

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.

artículo científico publicado en 2009

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

artículo científico publicado en 1992

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 1996

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

CNGA3 mutations in hereditary cone photoreceptor disorders

artículo científico publicado en 2001

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

artículo científico publicado en 1998

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2012

DNA methylation regulates tissue-specific expression of Shank3.

artículo científico publicado en 2007

De novo unbalanced translocations have a complex history/aetiology

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 1993

Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci

artículo científico publicado en 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado en 1993

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 1999

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

artículo científico publicado en 2018

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

artículo científico publicado en 1991

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

artículo científico publicado en 2015

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

artículo científico publicado en 1992

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Glutamic acid decarboxylase expression in islets and brain

artículo científico publicado en 1991

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 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?

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

Lyophilization as a method to store samples of whole blood

artículo científico publicado en 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

artículo científico publicado en 2017

Microsatellite repeat polymorphism at the D13S197 locus

artículo científico publicado en 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

artículo científico publicado en 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).

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Molecular organization of developmentally regulated Dictyostelium discoideum ubiquitin cDNAs

artículo científico publicado en 1989

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

Novel epilepsy phenotype associated to a known SCN8A mutation

artículo científico publicado en 2019

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

artículo científico publicado en 1989

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

artículo científico publicado en 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.

artículo científico publicado en 2007

Pain exposure associates with telomere length erosion in very preterm infants

artículo científico publicado en 2018

Partial deletion of DEPDC5 in a child with focal epilepsy.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

artículo científico publicado en 2001

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

artículo científico publicado en 2020

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

artículo científico publicado en 1989

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

artículo científico publicado en 2011

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

artículo científico publicado en 1993

Reciprocal translocations: a trap for cytogenetists?

artículo científico publicado en 2005

Refining the phenotype associated with MEF2C haploinsufficiency.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2004

Silencer elements as possible inhibitors of pseudoexon splicing

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Subtelomeric trisomy 21q: A new benign chromosomal variant

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Telomere length and salivary cortisol stress reactivity in very preterm infants

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 1992

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

artículo científico publicado en 1997

The dystrophin gene is alternatively spliced throughout its coding sequence.

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

article

XX males SRY negative: a confirmed cause of infertility

artículo científico publicado en 2011

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

artículo científico publicado en 1985

Lista de obras de 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

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

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

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

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

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

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

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.

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

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

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.

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

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

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

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

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

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

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

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

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

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

Analysis of specific mRNA destabilization during Dictyostelium development

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

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

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

CNGA3 mutations in hereditary cone photoreceptor disorders

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

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

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

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

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

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.

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

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

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

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

DCDC2 genetic variants and susceptibility to developmental dyslexia

DNA methylation regulates tissue-specific expression of Shank3.

De novo unbalanced translocations have a complex history/aetiology

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

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

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

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

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

Dinucleotide repeat polymorphism at the DXS1146 locus

Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci

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

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

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

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

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

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

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

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

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

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

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

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

Glutamic acid decarboxylase expression in islets and brain

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

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

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

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

Inverted duplications: how many of them are mosaic?

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

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

Lyophilization as a method to store samples of whole blood

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

Microsatellite repeat polymorphism at the D13S197 locus

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

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

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).

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

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

Molecular organization of developmentally regulated Dictyostelium discoideum ubiquitin cDNAs

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

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

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

Novel epilepsy phenotype associated to a known SCN8A mutation