Pingault V - Search Results

1

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

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V. Léger S, et al. Among authors: pingault v. Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258527 Free PMC article.

2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. Pingault V, et al. Nat Genet. 1998 Feb;18(2):171-3. doi: 10.1038/ng0298-171. Nat Genet. 1998. PMID: 9462749

3

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

Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M. Bondurand N, et al. Among authors: pingault v. Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785. Hum Mol Genet. 1999. PMID: 10441344

4

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

Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Touraine RL, et al. Among authors: pingault v. Am J Hum Genet. 2000 May;66(5):1496-503. doi: 10.1086/302895. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762540 Free PMC article.

5

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

Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M. Bondurand N, et al. Among authors: pingault v. Hum Mol Genet. 2000 Aug 12;9(13):1907-17. doi: 10.1093/hmg/9.13.1907. Hum Mol Genet. 2000. PMID: 10942418

6

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

Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P. Pingault V, et al. Ann Neurol. 2000 Oct;48(4):671-6. Ann Neurol. 2000. PMID: 11026454

7

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

Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. Pingault V, et al. J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205. J Med Genet. 2001. PMID: 11303518 Free PMC article. No abstract available.

8

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.

Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M. Bondurand N, et al. Among authors: pingault v. Hum Mol Genet. 2001 Nov 15;10(24):2783-95. doi: 10.1093/hmg/10.24.2783. Hum Mol Genet. 2001. PMID: 11734543

9

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

Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M. Pingault V, et al. Hum Genet. 2002 Aug;111(2):198-206. doi: 10.1007/s00439-002-0765-8. Epub 2002 Jul 6. Hum Genet. 2002. PMID: 12189494

10

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

Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V. Flori E, et al. Among authors: pingault v. Eur J Hum Genet. 2005 Sep;13(9):1013-8. doi: 10.1038/sj.ejhg.5201442. Eur J Hum Genet. 2005. PMID: 15915162

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