Lista de obras - Koen Devriendt - Dominio Público Uruguay

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

artículo científico publicado en 2012

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

artículo científico publicado en 2010

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

artículo científico publicado en 2003

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

artículo científico publicado en 2015

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

artículo científico publicado en 2003

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

artículo científico publicado en 2013

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

artículo científico publicado en 2007

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

artículo científico publicado en 2008

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

artículo científico publicado en 2007

NPHP4 variants are associated with pleiotropic heart malformations

artículo científico publicado en 2012

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

artículo científico publicado en 2015

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

artículo científico publicado en 2015

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

artículo científico publicado en 2007

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

artículo científico publicado en 2016

Practical guidelines for managing patients with 22q11.2 deletion syndrome

artículo científico publicado en 2011

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family

artículo científico publicado en 2003

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

artículo científico publicado en 2014

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Lista de obras de Koen Devriendt

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

NPHP4 variants are associated with pleiotropic heart malformations

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes