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Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patientsA molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathiesInteraction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndromeSOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismSOX10 mutations in patients with Waardenburg-Hirschsprung diseaseEDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateScreening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.Review and update of mutations causing Waardenburg syndrome.Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.Sox10 and Itgb1 interaction in enteric neural crest cell migration.Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.SOX10 mutations mimic isolated hearing loss.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.Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.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.A homozygousPAX3mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosisAn Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung DiseaseHuman Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10Expression of the SOX10 gene during human developmentInterdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphismLKB1 specifies neural crest cell fates through pyruvate-alanine cyclingEFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Veronique Pingault
@ast
Veronique Pingault
@en
Veronique Pingault
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Veronique Pingault
@nl
Veronique Pingault
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type
label
Veronique Pingault
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Veronique Pingault
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Veronique Pingault
@es
Veronique Pingault
@nl
Veronique Pingault
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prefLabel
Veronique Pingault
@ast
Veronique Pingault
@en
Veronique Pingault
@es
Veronique Pingault
@nl
Veronique Pingault
@sl
P106
P21
P31
P496
0000-0001-7064-0765