Trochet D - Search Results

1

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: trochet d. J Med Genet. 2006 May;43(5):419-23. doi: 10.1136/jmg.2005.040113. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443855 Free PMC article.

2

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: trochet d. Hum Mutat. 2007 Aug;28(8):790-6. doi: 10.1002/humu.20517. Hum Mutat. 2007. PMID: 17397038

3

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: trochet d. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453

4

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Trochet D, et al. Am J Hum Genet. 2004 Apr;74(4):761-4. doi: 10.1086/383253. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024693 Free PMC article.

5

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. Trochet D, et al. Am J Hum Genet. 2005 Mar;76(3):421-6. doi: 10.1086/428366. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657873 Free PMC article.

6

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Trochet D, et al. Hum Mol Genet. 2005 Dec 1;14(23):3697-708. doi: 10.1093/hmg/ddi401. Epub 2005 Oct 25. Hum Mol Genet. 2005. PMID: 16249188

7

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. de Pontual L, et al. Among authors: trochet d. Eur J Cancer. 2007 Nov;43(16):2366-72. doi: 10.1016/j.ejca.2007.07.016. Epub 2007 Aug 31. Eur J Cancer. 2007. PMID: 17765533 Free article.

8

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J. Trochet D, et al. Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20727. Hum Mutat. 2008. PMID: 18407552

9

PHOX2B gene mutation in a patient with late-onset central hypoventilation.

Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J. Trang H, et al. Among authors: trochet d. Pediatr Pulmonol. 2004 Oct;38(4):349-51. doi: 10.1002/ppul.20074. Pediatr Pulmonol. 2004. PMID: 15334515

10

Polyalanine expansions in human.

Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: trochet d. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. Hum Mol Genet. 2004. PMID: 15358730 Review.

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