List of works - Veronique Pingault

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

scientific article published in March 2001

A homozygousPAX3mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

scientific article published on 03 November 2015

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

scientific article (publication date: September 1999)

A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis

scientific article published on 6 August 2011

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome

scientific article

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

scientific article published on 29 February 2012

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

scientific article published on 08 January 2014

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

scientific article published on 22 October 2007

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.

scientific article published on 4 January 2017

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

scientific journal article

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

scientific article published on 25 April 2020

Expression of the SOX10 gene during human development

scientific article published on 01 August 1998

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

scientific article

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

article

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease

scientific article published in January 1997

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome ⬇️

scientific article published on September 19, 2011

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

scientific article (publication date: 12 August 2000)

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

scientific article published on 3 April 2006

Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphism

scientific article published on 01 December 1997

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

scientific article published on 17 July 2019

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

scientific article published on 20 June 2013

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

scientific article

Mutation of the Sry-related Sox10 gene in Dominant megacolon , a mouse model for human Hirschsprung disease ⬇️

scientific article published on April 28, 1998

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

scientific article published on 18 January 2012

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation

scientific article published in October 2000

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

scientific article

Review and update of mutations causing Waardenburg syndrome.

scientific article published on April 2010

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

scientific article (publication date: August 2002)

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

scientific article

SOX10 mutations mimic isolated hearing loss

scientific article published on 25 September 2014

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

scientific article

Sox10 and Itgb1 interaction in enteric neural crest cell migration.

scientific article published on 19 April 2013

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

scientific article published on 13 December 2012

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

scientific article published on 9 June 2015

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cells.

scientific article published in December 2007

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome

scientific article

List of works by Veronique Pingault

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

A homozygousPAX3mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

Expression of the SOX10 gene during human development

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome ⬇️

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphism

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

Mutation of the Sry-related Sox10 gene in Dominant megacolon , a mouse model for human Hirschsprung disease ⬇️

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Review and update of mutations causing Waardenburg syndrome.

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

SOX10 mutations mimic isolated hearing loss

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

Sox10 and Itgb1 interaction in enteric neural crest cell migration.

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cells.

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome