111 results on '"Pingault, Véronique"'
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2. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
3. Chromatin assembly factor subunit CHAF1Aas a monogenic cause for oculo-auriculo-vertebral spectrum
4. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
5. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
6. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
7. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
8. News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders
9. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
10. Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2
11. Mutation of the Sry-Related Sox10 Gene in Dominant megacolon, a Mouse Model for Human Hirschsprung Disease
12. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
13. A 22q13.1 duplication in mosaicism including SOX10
14. O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
15. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
16. Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
17. Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
18. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
19. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
20. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia
21. Sox10 and Itgb1 interaction in enteric neural crest cell migration
22. Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
23. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
24. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
25. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
26. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
27. A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
28. Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
29. Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
30. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
31. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development
32. EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type
33. Review and Update of Mutations Causing Waardenburg Syndrome
34. 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
35. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/ EDNRB gene mutations on neurocristopathy phenotypes?
36. LKB1 specifies neural crest cell fates through pyruvate-alanine cycling
37. Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain
38. Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment
39. Unilateral Sensorineural Hearing Loss: Medical Context and Etiology
40. Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
41. A Novel Mutation in the Endothelin B Receptor Gene in a Moroccan Family with Shah-Waardenburg Syndrome
42. Gene expression profiling identifies Hes6 as a transcriptional target of ATOH1 in cochlear hair cells
43. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome
44. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo‐obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 mutation
45. Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients
46. SOX10 mutations in patients with Waardenburg-Hirschsprung disease
47. Interdonor variability of platelet response to thrombin receptor activation: influence of PlA2 polymorphism
48. Human Homology and Candidate Genes for theDominant megacolonLocus, a Mouse Model of Hirschsprung Disease
49. Human Connexin 32, a gap junctionprotein altered in the X-linked form of Charcot–Marie–Toothdisease, is directly regulated by the transcription factor SOX10.
50. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
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