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Delphine Trochet

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Mayumi Nagashimada; Kazuki Nakao; Hiroshi Ohta; Delphine Trochet; Toshihiro Uesaka; Teruhiko Wakayama; Jeanne Amiel; Jean-François Brunet; Chong Li; Hideki Enomoto
Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
Delphine Trochet; Yves Mathieu; Loïc de Pontual; Ravi Savarirayan; Arnold Munnich; Jean-François Brunet; Stanislas LYONNET; Christo Goridis; Jeanne Amiel
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

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All Publications

2012: Mayumi Nagashimada; Kazuki Nakao; Hiroshi Ohta; Delphine Trochet; Toshihiro Uesaka; Teruhiko Wakayama; Jeanne Amiel; Jean-François Brunet; Chong Li; Hideki Enomoto
Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
The Journal of clinical investigation 2012;122(9):3145-58.
2009: Delphine Trochet; Yves Mathieu; Loïc de Pontual; Ravi Savarirayan; Arnold Munnich; Jean-François Brunet; Stanislas LYONNET; Christo Goridis; Jeanne Amiel
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.
Human mutation 2009;30(2):E421-31.
2008: Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatric research 2008;64(6):689-94.
2008: Delphine Trochet; Loïc de Pontual; Maria Helena Estêvao; Yves Mathieu; Arnold Munnich; JOSUE FEINGOLD; Christo Goridis; Stanislas LYONNET; Jeanne Amiel
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
Human mutation 2008;29(5):770.
2008: Delphine Trochet; Loïc de Pontual; Christian Straus; David Gozal; Ha Trang; Pierre Landrieu; Arnold Munnich; Stanislas LYONNET; Claude Gaultier; Jeanne Amiel
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
American journal of respiratory and critical care medicine 2008;177(8):906-11.
2008: Véronique Dubreuil; Nélina Ramanantsoa; Delphine Trochet; Vanessa Vaubourg; Jeanne Amiel; Jorge Gallego; Jean-François Brunet; Christo Goridis
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(3):1067-72.
2007: Aurore Carré; Mireille Castanet; Sylvia Sura-Trueba; Gabor Szinnai; Guy Van Vliet; Delphine Trochet; Jeanne Amiel; Juliane Léger; Paul Czernichow; Virginie Scotet; Michel Polak
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
Human genetics 2007;122(5):467-76.
2007: Loïc de Pontual; Delphine Trochet; Franck Bourdeaut; Sophie Thomas; Heather C Etchevers; Agnès Chompret; Véronique Minard; Dominique Valteau; Laurence Brugieres; Arnold Munnich; Olivier Delattre; Stanislas LYONNET; Isabelle Janoueix-Lerosey; Jeanne Amiel
Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.
European journal of cancer (Oxford, England : 1990) 2007;43(16):2366-72.
2007: Delphine Trochet; Loïc de Pontual; Boris Keren; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Jeanne Amiel
Polyalanine expansions might not result from unequal crossing-over.
Human mutation 2007;28(10):1043-4.
2007: Loïc de Pontual; Anna Pelet; M Clement-Ziza; Delphine Trochet; Stylianos Antonarakis; Tania Attie-Bitach; Philip L Beales; J-L Blouin; Florence Dastot-Le Moal; Hélène Dollfus; Michel Goossens; Nicholas Katsanis; Renaud Touraine; JOSUE FEINGOLD; Arnold Munnich; Stanislas LYONNET; Jeanne Amiel
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Human mutation 2007;28(8):790-6.
2006: Siu-Fong June Or; Ming-for Tony Tong; Fai-man Ivan Lo; Chi-Wai Law; Ting-Yat Miu; Delphine Trochet; Tak-sum Stephen Lam
PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.
Chinese medical journal 2006;119(20):1749-52.
2006: Loïc de Pontual; Anna Pelet; Delphine Trochet; F Jaubert; Yolanda Espinosa-Parrilla; Arnold Munnich; Jean-François Brunet; Christo Goridis; JOSUE FEINGOLD; Stanislas LYONNET; Jeanne Amiel
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.
Journal of medical genetics 2006;43(5):419-23.
2005: Delphine Trochet; Seok Jong Hong; Jin Kyu Lim; Jean-François Brunet; Arnold Munnich; Kwang-Soo Kim; Stanislas LYONNET; Christo Goridis; Jeanne Amiel
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
Human molecular genetics 2005;14(23):3697-708.
2005: Franck Bourdeaut; Delphine Trochet; Isabelle Janoueix-Lerosey; Agnès Ribeiro; Anne Deville; Carole Coz; Jean-François Michiels; Stanislas LYONNET; Jeanne Amiel; Olivier Delattre
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
Cancer letters 2005;228(1-2):51-8.
2005: Ramesh Bajaj; Janine Smith; Delphine Trochet; John Pitkin; Robert Ouvrier; Nicole Graf; David Sillence; Martin Kluckow
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
Pediatrics 2005;115(6):e737-8.
2005: Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas LYONNET; Jeanne Amiel
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
American journal of human genetics 2005;76(3):421-6.
2004: Jeanne Amiel; Delphine Trochet; Mathieu Clément-Ziza; Arnold Munnich; Stanislas LYONNET
Polyalanine expansions in human.
Human molecular genetics 2004;13 Spec No 2():R235-43.
2004: Ha Trang; Béatrice Laudier; Delphine Trochet; Arnold Munnich; Stanislas LYONNET; Claude Gaultier; Jeanne Amiel
PHOX2B gene mutation in a patient with late-onset central hypoventilation.
Pediatric pulmonology 2004;38(4):349-51.
2004: Delphine Trochet; Franck Bourdeaut; Isabelle Janoueix-Lerosey; Anne Deville; Loïc de Pontual; Gudrun Schleiermacher; Carole Coze; Nicole Philip; Thierry Frébourg; Arnold Munnich; Stanislas LYONNET; Olivier Delattre; Jeanne Amiel
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
American journal of human genetics 2004;74(4):761-4.
2003: Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather C Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas LYONNET
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Nature genetics 2003;33(4):459-61.