Bondurand N - Search Results

1

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

Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N. Chaoui A, et al. Among authors: bondurand n. Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21898658 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. Among authors: bondurand n. 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. Among authors: bondurand n. 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: bondurand n. 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

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. FEBS Lett. 1998 Aug 7;432(3):168-72. doi: 10.1016/s0014-5793(98)00843-6. FEBS Lett. 1998. PMID: 9720918 Free article.

6

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: bondurand n. 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.

7

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. Hum Mol Genet. 1999 Sep;8(9):1785-9. doi: 10.1093/hmg/8.9.1785. Hum Mol Genet. 1999. PMID: 10441344

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. 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. Among authors: bondurand n. 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. Among authors: bondurand n. 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.

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