Pingault V - Search Results

1

Expression of the SOX10 gene during human development.

Bondurand N, Kobetz A, Pingault V, Lemort N, Encha-Razavi F, Couly G, Goerich DE, Wegner M, Abitbol M, Goossens M. Bondurand N, et al. Among authors: pingault v. FEBS Lett. 1998 Aug 7;432(3):168-72. doi: 10.1016/s0014-5793(98)00843-6. FEBS Lett. 1998. PMID: 9720918 Free article.

2

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

Pingault V, Puliti A, Préhu MO, Samadi A, Bondurand N, Goossens M. Pingault V, et al. Genomics. 1997 Jan 1;39(1):86-9. doi: 10.1006/geno.1996.4476. Genomics. 1997. PMID: 9027489

3

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

4

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

Herbarth B, Pingault V, Bondurand N, Kuhlbrodt K, Hermans-Borgmeyer I, Puliti A, Lemort N, Goossens M, Wegner M. Herbarth B, et al. Among authors: pingault v. Proc Natl Acad Sci U S A. 1998 Apr 28;95(9):5161-5. doi: 10.1073/pnas.95.9.5161. Proc Natl Acad Sci U S A. 1998. PMID: 9560246 Free PMC article.

5

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

Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, Wegner M. Kuhlbrodt K, et al. Among authors: pingault v. J Biol Chem. 1998 Sep 4;273(36):23033-8. doi: 10.1074/jbc.273.36.23033. J Biol Chem. 1998. PMID: 9722528 Free article.

6

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

7

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.

8

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

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

62 results

Search Page