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Jeanne Amiel

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Anne-Sophie Jannot; Marine Masse-Morel; Arnold Munnich; Anna Pelet; Damien Sanlaville; Jeanne Amiel; Stacey Arnold; Nadege Bondurand; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Asma Chaoui; Françoise Clerget-Darpoux; Alexandra Henrion-Caude; Robert M W Hofstra; Stanislas LYONNET
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease.
Lilia Kraoua; Nathalie Pouvreau; Alain Verloes; Hubert Journel; Jeanne Amiel; Clarisse Baumann; Philippe Bonnet; Hélène Cavé
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

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All Publications

2013: Anne-Sophie Jannot; Marine Masse-Morel; Arnold Munnich; Anna Pelet; Damien Sanlaville; Jeanne Amiel; Stacey Arnold; Nadege Bondurand; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Asma Chaoui; Françoise Clerget-Darpoux; Alexandra Henrion-Caude; Robert M W Hofstra; Stanislas LYONNET
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease.
PloS one 2013;8(5):e62519.
2012: Lilia Kraoua; Nathalie Pouvreau; Alain Verloes; Hubert Journel; Jeanne Amiel; Clarisse Baumann; Philippe Bonnet; Hélène Cavé
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.
American journal of medical genetics. Part A 2012;158A(10):2407-11.
2012: Anne-Sophie Jannot; Francesca Lantieri; Arnold Munnich; Anna Pelet; Paul K H Tam; Joke B G M Verheij; Jeanne Amiel; Stacey Marie Arnold; Salud Borrego; Isabella Ceccherini; Aravinda Chakravarti; Françoise Clerget-Darpoux; Raquel M Fernandez; Mercè Garcia-Barcelo; Robert M W Hofstra; Stanislas LYONNET
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
European journal of human genetics : EJHG 2012;20(9):917-20.
2012: Vassili Valayannopoulos; Jeanne Amiel; Tania Attié-Bitach; Nadia Bahi-Buisson; Nathalie Boddaert; Francis Brunelle; Lydie Burglen; Jamel Chelly; Jocelyne De Laveaucoupet; Isabelle Desguerre; Ferechté Enza-Razavi; Laurence Hubert; Philippe Labrune; Didier Lacombe; Stanislas LYONNET; Caroline Michot; Diana Rodriguez; Yoann Saillour; Pascale de Lonlay
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Brain : a journal of neurology 2012;135(Pt 1):e199; author reply e200.
2011: Cécile Jeanpierre; Philippe Loget; Guillaume Macé; Jelena Martinovic; Vincent Morinière; Patrick Nitschke; Mélanie Parisot; Audrey Pawtowsky; Rémi Salomon; Frédéric Tores; Jeanne Amiel; Corinne Antignac; Tania Attié-Bitach; Marion Benabou; Patricia Blanchet; Wassila Carpentier; Anne-Lise Delezoide; Dominique Gaillard; Marie Gonzales; Laurence Heidet
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Journal of medical genetics 2011;48(7):497-504.
2011: Marie Cognet; Agnés Nougayrede; valerie malan; Patrick Callier; Celia Cretolle; Laurence Faivre; David Genevieve; Alice Goldenberg; Delphine Heron; Sandra Mercier; Nicole Philip; Sabine Sigaudy; Alain Verloes; Sabine Sarnacki; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Heather Etchevers; Jeanne Amiel; Loïc de Pontual
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
European journal of human genetics : EJHG 2011;19(5):602-6.
2010: Jeanne Amiel; Sabina Benko; Christopher T Gordon; Stanislas LYONNET
Disruption of long-distance highly conserved noncoding elements in neurocristopathies.
Annals of the New York Academy of Sciences 2010;1214():34-46.
2010: Eileen Sproat Emison; Mercè Garcia-Barcelo; Elizabeth A Grice; Francesca Lantieri; Jeanne Amiel; Grzegorz Burzynski; Raquel M Fernandez; Li Hao; Carl S Kashuk; Kristen West; Xiaoping Miao; Paul K H Tam; Paola Griseri; Isabella Ceccherini; Anna Pelet; Anne-Sophie Jannot; Loïc de Pontual; Alexandra Henrion-Caude; Stanislas LYONNET; Joke B G M Verheij; Robert M W Hofstra; Guillermo Antiñolo; Salud Borrego; Andy McCallion; Aravinda Chakravarti
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
American journal of human genetics 2010;87(1):60-74.
2009: Franck Bourdeaut; Isabelle Janoueix-Lerosey; Carlo LUCCHESI; Régine Paris; Agnès Ribeiro; Loïc de Pontual; Jeanne Amiel; Stanislas LYONNET; Gaëlle Pierron; Jean Michon; Michel Peuchmaur; Olivier Delattre
Cholinergic switch associated with morphological differentiation in neuroblastoma.
The Journal of pathology 2009;219(4):463-72.
2009: Jeanne Amiel; Véronique Dubreuil; Nélina Ramanantsoa; Gilles Fortin; Jorge Gallego; Jean-François Brunet; Christo Goridis
PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
Respiratory physiology & neurobiology 2009;168(1-2):125-32.
2009: Loïc de Pontual; Norann Zaghloul; Sophie Thomas; Erica E Davis; David M McGaughey; Hélène Dollfus; Clarisse Baumann; Seneca L Bessling; Candice Babarit; Anna Pelet; Cecilia Gascue; Philip L Beales; Arnold Munnich; Stanislas LYONNET; Heather C Etchevers; Tania Attie-Bitach; Jose L Badano; Andy McCallion; Nicholas Katsanis; Jeanne Amiel
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(33):13921-6.
2009: Marta Bertoli; Nathalie Boddaert; Odile Raoul; Jeanne Amiel; Stanislas LYONNET
Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.
Clinical dysmorphology 2009;18(2):110-1.
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: Isabelle Janoueix-Lerosey; Delphine Lequin; Laurence Brugières; Agnès Ribeiro; Loïc de Pontual; Valérie Combaret; Virginie Raynal; Alain Puisieux; Gudrun Schleiermacher; Gaëlle Pierron; Dominique Valteau-Couanet; Thierry Frebourg; Jean Michon; Stanislas LYONNET; Jeanne Amiel; Olivier Delattre
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.
Nature 2008;455(7215):967-70.
2008: Nadia Bahi-Buisson; K Poirier; Nathalie Boddaert; Yoann Saillour; L Castelnau; N Philip; G Buyse; L Villard; Sylvie Joriot; S Marret; M Bourgeois; H Van Esch; L Lagae; Jeanne Amiel; Lucie Hertz-Pannier; A Roubertie; F Rivier; J M Pinard; Cherif Beldjord; Jamel Chelly
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Journal of medical genetics 2008;45(10):647-53.
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.
2008: Jeanne Amiel; E Sproat-Emison; Mercè Garcia-Barcelo; Francesca Lantieri; Grzegorz Burzynski; Salud Borrego; Anna Pelet; Stacey Marie Arnold; Xiaoping Miao; Paola Griseri; A S Brooks; Guillermo Antinolo; Loïc de Pontual; M Clement-Ziza; Arnold Munnich; Carl S Kashuk; K West; K K-Y Wong; Stanislas LYONNET; Aravinda Chakravarti; Paul K H Tam; Isabella Ceccherini; Robert M W Hofstra; R Fernandez
Hirschsprung disease, associated syndromes and genetics: a review.
Journal of medical genetics 2008;45(1):1-14.
2007: Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
American journal of human genetics 2007;81(6):1169-85.
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: A Delahaye; Yves Sznajer; Stanislas LYONNET; M Elmaleh-Bergès; I Delpierre; Sophie Audollent; SR Wiener-Vacher; A-L Mansbach; Jeanne Amiel; Clarisse Baumann; D Bremond-Gignac; Tania Attié-Bitach; Alain Verloes; Damien Sanlaville
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Clinical genetics 2007;72(2):112-21.
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.
2007: David Geneviève; L de Pontual; Jeanne Amiel; Sabine Sarnacki; Stanislas LYONNET
An overview of isolated and syndromic oesophageal atresia.
Clinical genetics 2007;71(5):392-9.
2007: Jeanne Amiel; Marlène Rio; Loïc de Pontual; Richard Redon; valerie malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas LYONNET; Arnold Munnich; Laurence Colleaux
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
American journal of human genetics 2007;80(5):988-93.
2007: Celia Crétolle; Sabine Sarnacki; Jeanne Amiel; David Geneviève; Férechté Encha-Razavi; S Zrelli; Michel Zérah; Claire Nihoul-Fékété; Stanislas LYONNET
Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.
American journal of medical genetics. Part A 2007;143A(8):871-4.
2007: Lekbir Baala; Sylvain Briault; Heather C Etchevers; Frédéric Laumonnier; Abdelhafid Natiq; Jeanne Amiel; Nathalie Boddaert; Capucine Picard; Aziza Sbiti; Abdellah Asermouh; Tania Attié-Bitach; Férechté Encha-Razavi; Arnold Munnich; abdelaziz sefiani; Stanislas LYONNET
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nature genetics 2007;39(4):454-6.
2006: ML Jacquemont; Damien Sanlaville; Richard Redon; Odile Raoul; Valérie Cormier-Daire; Stanislas LYONNET; Jeanne Amiel; Martine Le Merrer; D Heron; Marie-Christine De Blois; Marguerite Prieur; Michel Vekemans; Nigel P Carter; Arnold Munnich; Laurence Colleaux; Anne Philippe
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
Journal of medical genetics 2006;43(11):843-9.
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.
2006: Damien Sanlaville; Heather C Etchevers; Marie Gonzales; Jelena Martinovic; Mathieu Clément-Ziza; Anne-Lise Delezoide; Marie-Cécile Aubry; Anna Pelet; S Chemouny; Corinne Cruaud; Sophie Audollent; Chantal Esculpavit; Géraldine Goudefroye; Catherine Ozilou; Catherine Fredouille; Nicole Joye; Nicole Morichon-Delvallez; Yves Dumez; Jean Weissenbach; Arnold Munnich; Jeanne Amiel; Férechté Encha-Razavi; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Journal of medical genetics 2006;43(3):211-217.
2006: Heather C Etchevers; Jeanne Amiel; Stanislas LYONNET
Molecular bases of human neurocristopathies.
Advances in experimental medicine and biology 2006;589():213-34.
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: Damien Sanlaville; David Genevieve; Céline Bernardin; Jeanne Amiel; Clarisse Baumann; Marie-Christine De Blois; Valérie Cormier-Daire; Bénédicte Gerard; Marion Gerard; Martine Le Merrer; Philippe Parent; Fabienne Prieur; Marguerite Prieur; Odile Raoul; Annick Toutain; Alain Verloes; Géraldine Viot; Serge Romana; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Catherine Turleau
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
European journal of human genetics : EJHG 2005;13(5):690-3.
2005: Anna Pelet; Loïc de Pontual; Mathieu Clément-Ziza; Rémi Salomon; Claude Mugnier; Fumihiko MATSUDA; M Lathrop; Arnold Munnich; JOSUE FEINGOLD; Stanislas LYONNET; L Abel; Jeanne Amiel
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.
Journal of medical genetics 2005;42(3):e18.
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.
2005: Ha Trang; Michel Dehan; François Beaufils; Isabelle Zaccaria; Jeanne Amiel; Claude Gaultier
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.
Chest 2005;127(1):72-9.
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: David Geneviève; Jeanne Amiel; Géraldine Viot; Martine Le Merrer; Damien Sanlaville; A Urtizberea; M Gérard; Arnold Munnich; Valérie Cormier-Daire; Stanislas LYONNET
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
American journal of medical genetics. Part A 2004;129A(1):64-8.
2004: Guntram Borck; Marlène Rio; Damien Sanlaville; Richard Redon; Florence Molinari; Delphine Bacq; Odile Raoul; Valérie Cormier-Daire; Stanislas LYONNET; Jeanne Amiel; Martine Le Merrer; Marie-Christine De Blois; Marguerite Prieur; Michel Vekemans; Nigel P Carter; Arnold Munnich; Laurence Colleaux
Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.
Clinical genetics 2004;66(2):122-7.
2004: L Pinson; Joëlle Augé; Sophie Audollent; G Mattéi; Heather C Etchevers; N Gigarel; F Razavi; D Lacombe; S Odent; Martine Le Merrer; Jeanne Amiel; Arnold Munnich; Germana Meroni; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
Journal of medical genetics 2004;41(5):381-6.
2004: Claude Gaultier; Jeanne Amiel; Stéphane Dauger; Ha Trang; Stanislas LYONNET; Jorge Gallego; Michel Simonneau
Genetics and early disturbances of breathing control.
Pediatric research 2004;55(5):729-33.
2004: Yolanda Espinosa-Parrilla; Férechté Encha-Razavi; Tania Attié-Bitach; Jelena Martinovic; Nicole Morichon-Delvallez; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Jeanne Amiel
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
Prenatal diagnosis 2004;24(4):298-301.
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: Loïc de Pontual; Virginie Népote; Tania Attié-Bitach; Hassan Al Halabiah; Ha Trang; Vincent Elghouzzi; Béatrice Levacher; Karim Benihoud; Joëlle Augé; Christophe Faure; Béatrice Laudier; Michel Vekemans; Arnold Munnich; Michel Perricaudet; François Guillemot; Claude Gaultier; Stanislas LYONNET; Michel Simonneau; Jeanne Amiel
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
Human molecular genetics 2003;12(23):3173-80.
2003: H K Benailly; Jean-Michel Lapierre; Béatrice Laudier; Jeanne Amiel; Tania Attié; Marie-Christine De Blois; Michel Vekemans; Serge Romana
PMX2B, a new candidate gene for Hirschsprung's disease.
Clinical genetics 2003;64(3):204-9.
2003: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: Marlène Rio; L Clech; Jeanne Amiel; Laurence Faivre; Stanislas LYONNET; Martine Le Merrer; Sylvie Odent; Didier Lacombe; P Edery; Raja Brauner; Odile Raoul; Philippe Gosset; Marguerite Prieur; Michel Vekemans; Arnold Munnich; Laurence Colleaux; Valérie Cormier-Daire
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Journal of medical genetics 2003;40(6):436-40.
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.
2003: Jeanne Amiel; Anna Pelet; Ha Trang; Loïc de Pontual; Michel Simonneau; Arnold Munnich; Claude Gaultier; Stanislas LYONNET
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).
American journal of medical genetics. Part A 2003;117A(1):18-20.
2002: Laurence Faivre; Philippe Gosset; Valérie Cormier-Daire; Sylvie Odent; Jeanne Amiel; Irina Giurgea; Marie-Cécile Nassogne; Laurent Pasquier; Arnold Munnich; Serge Romana; Marguerite Prieur; Michel Vekemans; Marie-Christine De Blois; Catherine Turleau
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
European journal of human genetics : EJHG 2002;10(11):699-706.
2002: Pascale de Lonlay; Valérie Cormier-Daire; Jeanne Amiel; Guy Touati; Alice Goldenberg; Jean-Christophe Fournet; Francis Brunelle; Claire Nihoul-Fékété; Jacques Rahier; Claudine Junien; Jean-Jacques Robert; Jean-Marie Saudubray
Facial appearance in persistent hyperinsulinemic hypoglycemia.
American journal of medical genetics 2002;111(2):130-3.
2002: Yolanda Espinosa-Parrilla; Jeanne Amiel; Joëlle Augé; Férechté Encha-Razavi; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Expression of the SMADIP1 gene during early human development.
Mechanisms of development 2002;114(1-2):187-91.
2002: M Holder-Espinasse; Sandrine Marie; G Bourrouillou; Irène Ceballos-Picot; Marie-Cécile Nassogne; Laurence Faivre; Jeanne Amiel; Arnold Munnich; Marie-Françoise Vincent; Valérie Cormier-Daire
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Journal of medical genetics 2002;39(6):440-2.
2002: Stacey B Gabriel; Rémi Salomon; Anna Pelet; Misha Angrist; Jeanne Amiel; Myriam Fornage; Tania Attié-Bitach; Jane M Olson; Robert Hofstra; Charles Buys; Julie Steffann; Arnold Munnich; Stanislas LYONNET; Aravinda Chakravarti
Segregation at three loci explains familial and population risk in Hirschsprung disease.
Nature genetics 2002;31(1):89-93.
2002: Marlène Rio; Florence Molinari; Solange Heuertz; Catherine Ozilou; Philippe Gosset; Odile Raoul; Valérie Cormier-Daire; Jeanne Amiel; Stanislas LYONNET; Martine Le Merrer; Catherine Turleau; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; Michel Vekemans; Arnold Munnich; Laurence Colleaux
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Journal of medical genetics 2002;39(4):266-70.
2002: Laurence Faivre; Jeanne Amiel; M Ouachée-Chardin; David Geneviève; Arnold Munnich; Valérie Cormier-Daire; F Monceaux; D Teillac
Septo-optic dysplasia and digital anomalies: another observation.
American journal of medical genetics 2002;108(3):247-8.
2002: Damien Sanlaville; Serge Romana; Jean-Michel Lapierre; Jeanne Amiel; David Genevieve; Catherine Ozilou; M Le Lorch; Sophie Brisset; Philippe Gosset; Clarisse Baumann; Catherine Turleau; Stanislas LYONNET; Michel Vekemans
A CGH study of 27 patients with CHARGE association.
Clinical genetics 2002;61(2):135-8.
2001: Jeanne Amiel; Valérie Raclin; J M Jouannic; N Morichon; H Hoffman-Radvanyi; M Dommergues; JOSUE FEINGOLD; Arnold Munnich; Jean-Paul Bonnefont
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
Journal of medical genetics 2001;38(12):850-2.
2001: Jeanne Amiel; Yolanda Espinosa-Parrilla; Julie Steffann; P Gosset; Anna Pelet; Marguerite Prieur; Odile Boute; A Choiset; Didier Lacombe; N Philip; Martine Le Merrer; H Tanaka; M Till; Renaud Touraine; Annick Toutain; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
American journal of human genetics 2001;69(6):1370-7.
2001: Jeanne Amiel; Stanislas LYONNET
Hirschsprung disease, associated syndromes, and genetics: a review.
Journal of medical genetics 2001;38(11):729-39.
2001: M Holder-Espinasse; Marie-Christine De Blois; Laurence Faivre; Serge Romana; Y Uteza; Arnold Munnich; Stanislas LYONNET; Valérie Cormier-Daire; Jeanne Amiel
Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.
Clinical dysmorphology 2001;10(4):253-5.
2001: M Holder-Espinasse; Véronique Abadie; Valérie Cormier-Daire; Constance Beyler; Yves Manach; Arnold Munnich; Stanislas LYONNET; Gérard Couly; Jeanne Amiel
Pierre Robin sequence: a series of 117 consecutive cases.
The Journal of pediatrics 2001;139(4):588-90.
2001: Pascal Dureau; Tania Attie-Bitach; Rémi Salomon; O Bettembourg; Jeanne Amiel; Yves Uteza; Jean-Louis Dufier
Renal coloboma syndrome.
Ophthalmology 2001;108(10):1912-6.
2001: Jeanne Amiel; Gaëlle Bougeard; C Francannet; Valérie Raclin; Arnold Munnich; Stanislas LYONNET; Thierry Frebourg
TP63 gene mutation in ADULT syndrome.
European journal of human genetics : EJHG 2001;9(8):642-5.
2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: Laurence Colleaux; Marlène Rio; Solange Heuertz; S Moindrault; Catherine Turleau; Catherine Ozilou; Philippe Gosset; O Raoult; Stanislas LYONNET; Valérie Cormier-Daire; Jeanne Amiel; Martine Le Merrer; Monique Picq; Marie-Christine De Blois; Marguerite Prieur; Serge Romana; F Cornelis; Michel Vekemans; Arnold Munnich
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
European journal of human genetics : EJHG 2001;9(5):319-27.
2001: Jeanne Amiel; T Attieé-Bitach; Rémi Marianowski; Valérie Cormier-Daire; Véronique Abadie; Damien Bonnet; Marie Gonzales; S Chemouny; Francis Brunelle; Arnold Munnich; Yves Manach; Stanislas LYONNET
Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
American journal of medical genetics 2001;99(2):124-7.
2001: B Imessaoudene; Jean-Paul Bonnefont; Ghislaine Royer; Valérie Cormier-Daire; Stanislas LYONNET; G Lyon; Arnold Munnich; Jeanne Amiel
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.
Journal of medical genetics 2001;38(3):171-4.
2001: Rémi Salomon; AL Tellier; Tania Attie-Bitach; Jeanne Amiel; Michel Vekemans; Stanislas LYONNET; Pascal Dureau; P Niaudet; Marie-Claire Gubler; Michel Broyer
PAX2 mutations in oligomeganephronia.
Kidney international 2001;59(2):457-62.
2001: Jeanne Amiel; L Faivre; R Marianowskl; Damien Bonnet; Gérard Couly; Yves Manach; M Le Merrer; Valérie Cormier-Daire; Arnold Munnich; Stanislas LYONNET
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.
Clinical dysmorphology 2001;10(1):15-8.
2000: Jeanne Amiel; Sophie Audollent; D Joly; Pascal Dureau; Rémi Salomon; AL Tellier; Joëlle Augé; François Bouissou; Corinne Antignac; Marie-Claire Gubler; Michael Eccles; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Tania Attié-Bitach
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
European journal of human genetics : EJHG 2000;8(11):820-6.
2000: Isabelle Valnot; S Osmond; Nadine Gigarel; B Mehaye; Jeanne Amiel; Valérie Cormier-Daire; Arnold Munnich; Jean-Paul Bonnefont; Pierre Rustin; Agnès Rötig
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
American journal of human genetics 2000;67(5):1104-9.
2000: Marie-France Gagnadoux; Tania Attié; Jeanne Amiel; Nadine Gigarel; Jean-Paul Bonnefont; Arnold Munnich; Marie-Claire Gubler; Corinne Antignac
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(9):942-7.
2000: Laurence Faivre; Valérie Cormier-Daire; Dominique Chrétien; J Christoph von Kleist-Retzow; Jeanne Amiel; Marc Dommergues; Jean-Marie Saudubray; Yves Dumez; Agnès Rötig; Pierre Rustin; Arnold Munnich
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: Véronique Abadie; SR Wiener-Vacher; Marie-Paule Morisseau-Durand; C Porée; Jeanne Amiel; L Amanou; C Peigné; Stanislas LYONNET; Y Manac'h
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.
European journal of pediatrics 2000;159(8):569-74.
2000: AL Tellier; Jeanne Amiel; Anne-Lise Delezoide; Sophie Audollent; Joëlle Augé; D Esnault; Férechté Encha-Razavi; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Tania Attié-Bitach
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
American journal of medical genetics 2000;93(2):85-8.
2000: Damien Sanlaville; Marie-Cécile Aubry; Yves Dumez; M C Nolen; Jeanne Amiel; MP Pinson; Stanislas LYONNET; Arnold Munnich; Michel Vekemans; Nicole Morichon-Delvallez
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
Journal of medical genetics 2000;37(7):525-8.
2000: Jeanne Amiel; Rémi Salomon; Tania Attié-Bitach; Renaud Touraine; Julie Steffann; Anna Pelet; C Nihoul-Fékété; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
Journal de la Société de biologie 2000;194(3-4):125-8.
1999: Jeanne Amiel; Pascale de Lonlay; C Francannet; A Picard; H Bruel; Daniel Rabier; Martine Le Merrer; Nanda M Verhoeven; C Jakobs; Stanislas LYONNET; Arnold Munnich
Facial anomalies in D-2-hydroxyglutaric aciduria.
American journal of medical genetics 1999;86(2):124-9.
1999: C Picard; Sophie Couderc; taraneh shojaei; R Salomon; Pascale de Lonlay; Martine Le Merrer; Arnold Munnich; Stanislas LYONNET; Jeanne Amiel
Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement.
Clinical genetics 1999;56(2):170-2.
1999: Jeanne Amiel; Valérie Cormier-Daire; Pierre Journeau; P Mussat; Arnold Munnich; Stanislas LYONNET
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
Journal of medical genetics 1999;36(7):561-4.
1999: D Joly; Rémi Salomon; Jeanne Amiel; AL Tellier; Tania Attié-Bitach; Jean-Pierre Grünfeld
Pax2 in the development of renal and urinary tract diseases.
Advances in nephrology from the Necker Hospital 1999;29():317-27.
1998: Tania Attié-Bitach; marc Mordekhaï ABITBOL; M Gérard; Anne-Lise Delezoide; Joëlle Augé; Anna Pelet; Jeanne Amiel; V Pachnis; Arnold Munnich; Stanislas LYONNET; Michel Vekemans
Expression of the RET proto-oncogene in human embryos.
American journal of medical genetics 1998;80(5):481-6.
1998: Pascale De Lonlay-Debeney; Marie-Christine De Blois; Damien Bonnet; Jeanne Amiel; Véronique Abadie; Monique Picq; Stanislas LYONNET; Daniel Sidi; Arnold Munnich; Michel Vekemans; Valérie Cormier-Daire
Ebstein anomaly associated with rearrangements of chromosomal region 11q.
American journal of medical genetics 1998;80(2):157-9.
1998: Rémi Salomon; Jeanne Amiel; Tania Attié; Anna Pelet; Arnold Munnich; Stanislas LYONNET
[From monogenic to polygenic: model of Hirschsprung disease].
Pathologie-biologie 1998;46(9):705-7.
1998: B Doray; Rémi Salomon; Jeanne Amiel; Anna Pelet; Renaud Touraine; Marc Billaud; Tania Attié; B Bachy; Arnold Munnich; Stanislas LYONNET
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
Human molecular genetics 1998;7(9):1449-52.
1998: AL Tellier; Valérie Cormier-Daire; Véronique Abadie; Jeanne Amiel; Sabine Sigaudy; Damien Bonnet; Pascale De Lonlay-Debeney; M P Morrisseau-Durand; P Hubert; J L Michel; Dominique M. Jan; Hélène Dollfus; Clarisse Baumann; P Labrune; Didier Lacombe; N Philip; M LeMerrer; Marie Louise Briard; Arnold Munnich; Stanislas LYONNET
CHARGE syndrome: report of 47 cases and review.
American journal of medical genetics 1998;76(5):402-9.
1998: G Viot-Szoboszlai; Jeanne Amiel; François Doz; Marguerite Prieur; J Couturier; J N Zucker; I Henry; Arnold Munnich; Michel Vekemans; Stanislas LYONNET
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome.
Clinical genetics 1998;53(4):278-80.
1998: Jeanne Amiel; Rémi Salomon; Tania Attié; Anna Pelet; Ha Trang; M Mokhtari; Claude Gaultier; Arnold Munnich; Stanislas LYONNET
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
American journal of human genetics 1998;62(3):715-7.
1998: Veronique Pingault; Nadege Bondurand; Kirsten Kuhlbrodt; DE Goerich; MO Préhu; Aldamaria Puliti; B Herbarth; Irm Hermans-Borgmeyer; E Legius; G Matthijs; Jeanne Amiel; Stanislas LYONNET; Isabella Ceccherini; Giovanni Romeo; J C Smith; A P Read; Michael Wegner; Michel Goossens
SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
Nature genetics 1998;18(2):171-3.
1998: Rémi Salomon; T Attie; Jeanne Amiel; Anna Pelet; P Niaudet; Stanislas LYONNET
RET proto-oncogene: role in kidney development and molecular pathology.
Advances in nephrology from the Necker Hospital 1998;28():401-17.
1998: Jeanne Amiel; D Lacombe; Tania Attié; A Munnich; Stanislas LYONNET
[Congenital malformations in pediatric tumors].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1998;5 Suppl 2():88s-89s.
1997: Pascale De Lonlay-Debeney; Valérie Cormier-Daire; Jeanne Amiel; Véronique Abadie; Sylvie Odent; Alain Paupe; Sophie Couderc; AL Tellier; Damien Bonnet; Marguerite Prieur; Michel Vekemans; Arnold Munnich; Stanislas LYONNET
Features of DiGeorge syndrome and CHARGE association in five patients.
Journal of medical genetics 1997;34(12):986-9.
1997: C Bidaud; Rémi Salomon; G Van Camp; Anna Pelet; Tania Attié; C Eng; M Bonduelle; Jeanne Amiel; C Nihoul-Fékété; P J Willems; Arnold Munnich; Stanislas LYONNET
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
European journal of human genetics : EJHG 1997;5(4):247-51.
1996: Rémi Salomon; Tania Attié; Anna Pelet; C Bidaud; Charis Eng; Jeanne Amiel; Sabine Sarnacki; Olivier Goulet; Claude Ricour; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Nature genetics 1996;14(3):345-7.
1996: Philippe Caron; Tania Attié; D David; Jeanne Amiel; F Brousset; P Roger; A Munnich; Stanislas LYONNET
C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
The Journal of clinical endocrinology and metabolism 1996;81(7):2731-3.
1996: P Edery; Tania Attié; Jeanne Amiel; Anna Pelet; Charis Eng; R M Hofstra; H Martelli; C Bidaud; Arnold Munnich; Stanislas LYONNET
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):442-4.
1996: Jeanne Amiel; Tania Attié; Dominique M. Jan; Anna Pelet; P Edery; C Bidaud; D Lacombe; P Tam; J Simeoni; E Flori; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Human molecular genetics 1996;5(3):355-7.
1996: Tania Attié; Rémi Salomon; Jeanne Amiel; P Edery; Anna Pelet; C Nihoul-Fékété; Arnold Munnich; Stanislas LYONNET
[Genetics of Hirschsprung disease].
Comptes rendus des séances de la Société de biologie et de ses filiales 1996;190(5-6):549-56.
1996: Tania Attié; Jeanne Amiel; Dominique M. Jan; P Edery; Anna Pelet; Rémi Salomon; Arnold Munnich; Stanislas LYONNET; C Nihoul-Fékété
[Genetics of Hirschsprung disease].
Annales de chirurgie 1996;50(7):538-41.
1995: Tania Attié; M Till; Anna Pelet; Jeanne Amiel; P Edery; L Boutrand; Arnold Munnich; Stanislas LYONNET
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
Human molecular genetics 1995;4(12):2407-9.
1995: Tania Attié; Anna Pelet; P Edery; Charis Eng; Lois M Mulligan; Jeanne Amiel; L Boutrand; C Beldjord; C Nihoul-Fékété; Arnold Munnich
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Human molecular genetics 1995;4(8):1381-6.