V. Pingault

发表

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

A. Munnich, R. Touraine, W. Doerfler, 2000, American journal of human genetics.

Expression of the SOX10 gene during human development

M. Wegner, F. Encha-Razavi, M. Goossens, 1998, FEBS letters.

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

R. Hennekam, N. Tommerup, M. Warburg, 1999, Human molecular genetics.

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

J. Fiessinger, M. Aiach, F. Rendu, 1997, British journal of haematology.

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo‐obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation

C. Lacroix, S. Lyonnet, C. Faure, 2000, Annals of neurology.

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

L. Richard, J. Vallat, P. de la Grange, 2020, Nature Communications.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

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

S. Lyonnet, T. Bienvenu, J. Amiel, 2018, Clinical genetics.

Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients*

M. Wegner, C. Schmidt, E. Sock, 1998, The Journal of Biological Chemistry.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

Sox10 and Itgb1 interaction in enteric neural crest cell migration.

P. Paul-Gilloteaux, S. Dufour, V. Pingault, 2013, Developmental biology.

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

W. Reardon, R. Touraine, A. Toutain, 2007, American journal of human genetics.

Deletions at the SOX 10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

W. Reardon, R. Touraine, A. Toutain, 2007 .

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes?

J. Hugot, P. Jouk, I. Ceccherini, 2001, Journal of medical genetics.

A. Verloes, P. Uldall, S. Manouvrier-Hanu, 2014, American journal of medical genetics. Part A.

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

M. Goossens, N. Loundon, B. Duriez, 2012, European Journal of Human Genetics.

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

E. Girodon, M. Goossens, N. Boehm, 2005, European Journal of Human Genetics.

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

M. Wegner, A. Puliti, M. Goossens, 1998, Proceedings of the National Academy of Sciences of the United States of America.

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

V. Pingault, N. Bondurand, Lisa Zerad, 2021, Journal of Medical Genetics.

SOX10 mutations mimic isolated hearing loss

F. Denoyelle, H. Ducou le Pointe, N. Loundon, 2015, Clinical genetics.

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

R. Mendoza-Londono, L. Lecerf, A. Colley, 2015, Human molecular genetics.

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

M. Ruíz-Ferrer, S. Borrego, L. Lecerf, 2014, Human mutation.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

J. Hardelin, Jacques Young, J. Bertherat, 2013, American journal of human genetics.

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

R. Touraine, M. Goossens, V. Pingault, 2011, Human mutation.

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

I. Verma, C. Baumann, M. Goossens, 2002, Human Genetics.

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.

O. Dubourg, M. Goossens, V. Pingault, 2001, Human molecular genetics.

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

E. Le Guern, S. Tardieu, O. Dubourg, 2001, Journal of Neurology.

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

M. Wegner, C. Le Caignec, M. Goossens, 2000, Human molecular genetics.

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Giovanni Romeo, Gert Matthijs, Eric Legius, 1998, Nature Genetics.

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology

F. Denoyelle, N. Loundon, E. Garabédian, 2017, Audiology and Neurotology.

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations

K. Devriendt, G. Sebag, C. Baumann, 2013, American Journal of Neuroradiology.

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

M. Goossens, T. Attié-Bitach, S. Marlin, 2012, PloS one.

Review and update of mutations causing Waardenburg syndrome

M. Goossens, S. Marlin, V. Pingault, 2010, Human mutation.

News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders.

S. Dufour, V. Pingault, N. Bondurand, 2018, Developmental biology.

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

D. Huylebroeck, L. Lecerf, V. Pingault, 2017, Gastroenterology.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

P. Nitschké, N. Deggouj, A. David, 2017, Human mutation.

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

A. Unzicker, A. Schütz, S. Rauthe, 2011, European Journal of Pediatrics.

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

V. Pachnis, M. Goossens, V. Pingault, 2006, Developmental biology.

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

V. Drouin‐Garraud, H. Dollfus, C. Baumann, 2012, European Journal of Human Genetics.

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

E. Chouery, A. Mégarbané, Z. Khoueir, 2011, Molecular Syndromology.

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

E. Steingrímsson, K. Bergsteinsdottir, Alexander Schepsky, 2013, Human molecular genetics.

domain: genotypic and phenotypic variations in Waardenburg and 2

Annick, V. Drouin‐Garraud, H. Dollfus, 2012 .

A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

J. Chiésa, F. Grosjean, V. Pingault, 2015, Prenatal diagnosis.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

P. Hainaut, N. Bardeesy, L. Larue, 2019, Science Advances.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

C. Delacourt, S. Lyonnet, S. Sarnacki, 2022, American journal of medical genetics. Part A.

A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome

M. Azouz, S. Elalaoui, A. Sefiani, 2015, Molecular Syndromology.

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

W. Newman, K. Hentges, J. Amiel, 2020, Human Mutation.

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

D. Corey, A. Elgoyhen, P. Plazas, 2007, Journal of neurochemistry.

Gene expression profiling identifies Hes6 as a transcriptional target of ATOH1 in cochlear hair cells

D. Corey, David P Corey, Deborah Scheffer, 2007, FEBS letters.

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

A. Puliti, M. Goossens, M. Préhu, 1997, Genomics.

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

M. Ikeguchi, Y. Uchijima, Y. Kurihara, 2023, The Journal of clinical investigation.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

A. Afenjar, V. Cormier-Daire, J. Amiel, 2022, Orphanet Journal of Rare Diseases.

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

E. Quelennec, J. Amiel, F. Petit, 2020, Stem cell research.

Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

N. Boddaert, A. Rausell, Jérémy Dana, 2023, Clinical genetics.

A 22q13.1 duplication in mosaicism including SOX10.

M. Parisot, N. Loundon, J. Lapierre, 2023, American journal of medical genetics. Part A.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

F. Denoyelle, D. Milea, N. Garcelon, 2023, Frontiers in pediatrics.

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

D. Huylebroeck, L. Lecerf, V. Pingault, 2017, Gastroenterology.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants

R. Mingroni-Netto, S. S. da Costa, Eliete Pardono, 2023, Audiology research.