about
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genesA novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association studyCommon variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastomaGenetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.Variants of ST8SIA1 are associated with risk of developing multiple sclerosis.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.Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass.Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.Variants of DENND1B associated with asthma in children.Integrative genomics identifies LMO1 as a neuroblastoma oncogene.Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.A genome-wide association study identifies KIAA0350 as a type 1 diabetes 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.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportCopy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.Statistical tools for linkage analysis and genetic association studies.Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.ADHD genetics: 2007 update.Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeReplication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibilityTHBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeReplication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia.Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.Rare variants in TP53 and susceptibility to neuroblastoma.Association of a polymorphic variant of the adiponectin gene with insulin resistance in african americans.Why is the cystic fibrosis gene so frequent?
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description
researcher ORCID: 0000-0002-4431-5114
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Μαρτσέλλα Ντέβοτο
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Μαρτσέλλα Ντέβοτο
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Marcella Devoto
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Μαρτσέλλα Ντέβοτο
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P214
P244
P106
P1153
55137563300
P21
P214
P244
P31
P496
0000-0002-4431-5114
P7859
lccn-n92801188