Lista de obras - Wim Wuyts - Dominio Público Uruguay

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

article

An interstitial deletion of chromosome 7 at band q21: a case report and review

artículo científico publicado en 2005

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

artículo científico publicado en 2018

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families

artículo científico publicado en 2011

CNV-WebStore: online CNV analysis, storage and interpretation

artículo científico publicado en 2011

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

artículo científico publicado en 2008

Clinical and molecular analysis of nine families with Adams-Oliver syndrome

artículo científico publicado en 2003

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

artículo científico publicado en 2011

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

artículo científico publicado en 2016

Erratum to “High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)” [Journal of Cystic Fibrosis 6(2007)371–375]

article

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

artículo científico publicado en 2007

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

artículo científico publicado en 2011

Genetic defects in the development of the skull vault in humans and mice

artículo científico publicado en 2006

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

artículo científico publicado en 2015

High incidence of the CFTR mutations 3272-26A→G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A→G, E588V, and 1671insTATCA)

article

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review

artículo científico publicado en 2006

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome andARHGAP31mutations

artículo científico publicado en 2014

KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

article

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

artículo científico publicado en 2011

Molecular and clinical examination of an Italian DEFECT 11 family

article

Molecular diagnostics for hereditary hearing loss in children

artículo científico

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

artículo científico publicado en 2002

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple o

scholarly article by Ivy Jennes et al published January 2008 in The Journal of Molecular Diagnostics

Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

article

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

scientific article published in 2022

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

artículo científico publicado en 2016

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

article

Prenatal diagnosis of Pfeiffer syndrome type II

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

artículo científico publicado en 2004

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

artículo científico publicado en 2007

Response to letter to the editor: “Hypoparathyroidism-Retardation-Dysmorphism Syndrome in a Female Child: A New Variant Not Caused by aTBCE Mutation—Clinical Report and Review”

article

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

article

Trichorhinophalangeal syndrome type II presenting with short stature in a child

artículo científico publicado en 2016

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

artículo científico publicado en 2017

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans

artículo científico publicado en 2013

Lista de obras de Wim Wuyts

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

An interstitial deletion of chromosome 7 at band q21: a case report and review

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families

CNV-WebStore: online CNV analysis, storage and interpretation

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

Clinical and molecular analysis of nine families with Adams-Oliver syndrome

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Erratum to “High incidence of the CFTR mutations 3272-26A → G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A → G, E588V, and 1671insTATCA)” [Journal of Cystic Fibrosis 6(2007)371–375]

GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

Genetic defects in the development of the skull vault in humans and mice

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

High incidence of the CFTR mutations 3272-26A→G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A→G, E588V, and 1671insTATCA)

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome andARHGAP31mutations

KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

Molecular and clinical examination of an Italian DEFECT 11 family

Molecular diagnostics for hereditary hearing loss in children

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple o

Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Prenatal diagnosis of Pfeiffer syndrome type II

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Response to letter to the editor: “Hypoparathyroidism-Retardation-Dysmorphism Syndrome in a Female Child: A New Variant Not Caused by aTBCE Mutation—Clinical Report and Review”

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

Trichorhinophalangeal syndrome type II presenting with short stature in a child

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans