Lista de obras - Marcella Devoto - Dominio Público Uruguay

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

artículo científico publicado en 2012

A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

article

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

artículo científico publicado en 2015

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

artículo científico publicado en 2007

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

article

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

artículo científico publicado en 2004

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

artículo científico publicado en 1992

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

artículo científico publicado en 2008

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

artículo científico publicado en 2002

A second genetic locus for autosomal dominant polycystic kidney disease

scientific article published on 01 July 1988

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

article

ADHD genetics: 2007 update.

artículo científico publicado en 2007

Advances in family-based association analysis. Introduction

artículo científico publicado en 2008

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

artículo científico publicado en 2010

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

artículo científico publicado en 1995

Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.

artículo científico publicado en 2003

Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease

scientific article published on 01 January 2004

Association of a polymorphic variant of the adiponectin gene with insulin resistance in african americans.

artículo científico publicado en 2008

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

artículo científico publicado en 2003

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.

artículo científico publicado en 2009

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

artículo científico publicado en 2000

Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

artículo científico publicado en 2017

Common genetic variants in NEFL influence gene expression and neuroblastoma risk

artículo científico publicado en 2014

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

artículo científico publicado en 2017

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma

scientific journal article

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

artículo científico publicado en 2015

Contribution of IBD5 Locus to Clinical Features of IBD Patients

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect

artículo científico publicado en 1990

Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

article

Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX 3 CR 1 in All Affected Members of a Large Multigeneration Family ⬇️

artículo científico publicado el 1 de diciembre de 2013

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

artículo científico publicado en 2015

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

artículo científico publicado en 2013

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

artículo científico publicado en 1997

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

artículo científico publicado en 2015

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

artículo científico publicado en 2015

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

artículo científico publicado en 1998

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

artículo científico publicado en 1992

Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients

artículo científico publicado en 1990

Gender-dependent disease severity in autosomal polycystic kidney disease of rats

artículo científico publicado en 1995

Genetic Mapping of Quantitative Trait Loci for Disease-Related Phenotypes ⬇️

artículo científico publicado el 1 de enero de 2012

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

artículo científico publicado en 2007

Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study.

artículo científico publicado en 1999

Genetic heterogeneity of hypertrophic cardiomyopathy

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

artículo científico publicado en 2008

Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

artículo científico publicado en 2012

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

artículo científico publicado en 2000

Genome-Wide Linkage Analysis to Identify Genetic Modifiers of <i>ALK</i> Mutation Penetrance in Familial Neuroblastoma ⬇️

artículo científico publicado el 6 de julio de 2011

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

artículo científico publicado en 1990

Haplotype distribution and molecular defects of PKU in Italy

artículo científico publicado en 1990

Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.

artículo científico publicado en 1989

Heterogeneity in the Magnitude of the Insulin Gene Effect on HLA Risk in Type 1 Diabetes

article

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

artículo científico publicado en 2015

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.

artículo científico publicado en 2008

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

artículo científico publicado en 2016

Identification of a novel locus on 2q for autosomal dominant high-grade myopia.

artículo científico publicado en 2005

Integration of Omics Data in Genetic Epidemiology.

artículo científico publicado en 2015

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

artículo científico publicado en 2010

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

artículo científico publicado en 1995

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies

artículo científico publicado en 1988

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

article

Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

article

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

artículo científico publicado en 1993

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

artículo científico publicado en 2007

Multidrug resistance 1 gene polymorphisms are not associated with inflammatory bowel disease and response to therapy in Italian patients.

artículo científico publicado en 2005

N-myc oncogene amplification and catecholamine metabolism in patients with neuroblastoma

artículo científico publicado en 1987

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

artículo científico publicado en 2004

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

article

Next-generation linkage analysis.

artículo científico publicado en 2011

Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.

artículo científico publicado en 2009

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

artículo científico publicado en 2001

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

artículo científico publicado en 2015

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

artículo científico publicado en 2011

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

artículo científico publicado en 2014

Phenylketonuria mutation in southern Europeans

artículo científico publicado en 1991

Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.

artículo científico publicado en 2015

Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

artículo científico publicado en 1990

Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8

artículo científico publicado en 1990

Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism

artículo científico publicado en 1992

Prenatal diagnosis of cystic fibrosis using linked DNA probes

artículo científico publicado en 1988

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

artículo científico publicado en 2016

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

artículo científico publicado en 2010

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.

artículo científico publicado en 2010

Rare variants in TP53 and susceptibility to neuroblastoma.

artículo científico publicado en 2014

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

artículo científico publicado en 2013

Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

artículo científico publicado en 1999

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

artículo científico publicado en 2012

Replication of Neuroblastoma SNP Association at the BARD1 Locus in African-Americans ⬇️

artículo científico publicado el 10 de febrero de 2012

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

artículo científico publicado en 2013

Search for linkage to schizophrenia on the X and Y chromosomes

artículo científico publicado en 1994

Statistical tools for linkage analysis and genetic association studies

artículo científico publicado en 2005

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

artículo científico publicado en 2016

The Otto Aufranc Award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family

artículo científico publicado en 2009

The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families.

artículo científico publicado en 1991

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density

scientific article published on 01 June 2005

Variants of DENND1B associated with asthma in children

artículo científico publicado en 2009

Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis

artículo científico publicado en 2006

Variants of ST8SIA1 are associated with risk of developing multiple sclerosis

artículo científico publicado en 2008

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

artículo científico publicado en 2016

Weak linkage at 4p16 to predisposition for human neuroblastoma

artículo científico publicado en 2002

Why is the cystic fibrosis gene so frequent?

artículo científico publicado en 1989

Lista de obras de Marcella Devoto

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

A second genetic locus for autosomal dominant polycystic kidney disease

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

ADHD genetics: 2007 update.

Advances in family-based association analysis. Introduction

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Association analysis of bone mineral density and single nucleotide polymorphisms in two candidate genes on chromosome 1p36.

Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease

Association of a polymorphic variant of the adiponectin gene with insulin resistance in african americans.

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Common genetic variants in NEFL influence gene expression and neuroblastoma risk

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Contribution of IBD5 Locus to Clinical Features of IBD Patients

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

Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect

Deletion ΔF508 and haplotype analysis of CFTR gene region in Slovak CF patients

Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX 3 CR 1 in All Affected Members of a Large Multigeneration Family ⬇️

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients

Gender-dependent disease severity in autosomal polycystic kidney disease of rats

Genetic Mapping of Quantitative Trait Loci for Disease-Related Phenotypes ⬇️

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study.

Genetic heterogeneity of hypertrophic cardiomyopathy

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia

Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Genome-Wide Linkage Analysis to Identify Genetic Modifiers of &lt;i&gt;ALK&lt;/i&gt; Mutation Penetrance in Familial Neuroblastoma ⬇️

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

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

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Haplotype distribution and molecular defects of PKU in Italy

Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.

Heterogeneity in the Magnitude of the Insulin Gene Effect on HLA Risk in Type 1 Diabetes

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.

IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DS.

Identification of a novel locus on 2q for autosomal dominant high-grade myopia.

Integration of Omics Data in Genetic Epidemiology.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

Multidrug resistance 1 gene polymorphisms are not associated with inflammatory bowel disease and response to therapy in Italian patients.

N-myc oncogene amplification and catecholamine metabolism in patients with neuroblastoma

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

Next-generation linkage analysis.

Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study

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

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

Genome-Wide Linkage Analysis to Identify Genetic Modifiers of <i>ALK</i> Mutation Penetrance in Familial Neuroblastoma ⬇️