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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
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.
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
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.
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.
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
Carré A, Castanet M, Sura-Trueba S, Szinnai G, Van Vliet G, Trochet D, Amiel J, Léger J, Czernichow P, Scotet V, Polak M. Carré A, et al. Among authors: trochet d. Hum Genet. 2007 Dec;122(5):467-76. doi: 10.1007/s00439-007-0420-5. Epub 2007 Aug 24. Hum Genet. 2007. PMID: 17717707
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
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J. De Pontual L, et al. Among authors: trochet d. Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e. Pediatr Res. 2008. PMID: 18670370
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.
Dubreuil V, Ramanantsoa N, Trochet D, Vaubourg V, Amiel J, Gallego J, Brunet JF, Goridis C. Dubreuil V, et al. Among authors: trochet d. Proc Natl Acad Sci U S A. 2008 Jan 22;105(3):1067-72. doi: 10.1073/pnas.0709115105. Epub 2008 Jan 15. Proc Natl Acad Sci U S A. 2008. PMID: 18198276 Free PMC article.
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
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