Jeanne Amiel - Dissemin

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Papers authored by Jeanne Amiel

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2007 Loïc de Pontual, Delphine Trochet, Franck Bourdeaut, Sophie Thomas, Heather Etchevers, Agnes Chompret, Véronique Minard, Dominique Valteau, Laurence Brugières, Arnold Munnich, Olivier Delattre, Stanislas Lyonnet, Isabelle Janoueix-Lerosey, Jeanne Amiel

ORCID

, Loïc Pontual

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

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Aurore Carré, Mireille Castanet, Sylvia Sura-Trueba, Gabor Szinnai, Guy Van Vliet, Delphine Trochet, Jeanne Amiel

ORCID

, Juliane Léger, Paul Czernichow, Virginie Scotet, Michel Polak

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

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B. Isidor, M. Rio, O. Mourier, D. Habes, J. Amiel

ORCID

, E. Jacquemin

Kabuki Syndrome and Neonatal Cholestasis: Report of a New Case and Review of the Literature:

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A. Delahaye, Y. Sznajer, S. Lyonnet, M. Elmaleh-Bergès, I. Delpierre, S. Audollent, S. Wiener-Vacher, A‐L-L. Mansbach, J. Amiel

ORCID

, C. Baumann, D. Bremond-Gignac, T. Attié-Bitach, A. Verloes, D. Sanlaville

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

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H.-C. Etchevers, J. Amiel

ORCID

, S. Lyonnet

Bases génétiques et moléculaires des neurocristopathies

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D. Geneviève, L. De Pontual, J. Amiel

ORCID

, S. Sarnacki, S. Lyonnet

An overview of isolated and syndromic oesophageal atresia

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Jeanne Amiel

ORCID

, Loïc de Pontual, Marlène Rio, Loïc de Pontual, Richard Redon

ORCID

, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Munnich, Laurence Colleaux

ORCID

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

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Lekbir Baala, Sylvain Briault, Heather C. Etchevers, Frédéric Laumonnier

ORCID

, Abdelhafid Natiq, Jeanne Amiel

ORCID

, Nathalie Boddaert, Capucine Picard

ORCID

, Aziza Sbiti, Abdellah Asermouh, Tania Attié-bitach, Féréchté 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

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Juliaan Leroy, Gilles Lyon, Catherine Fallet, Jeanne Amiel

ORCID

, Claudine De Praeter, Caroline Van den broecke, Piet Vanhaesebrouck

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

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C. Crétolle, S. Sarnacki, J. Amiel

ORCID

, D. Geneviève, F. Encha-Razavi, S. Zrelli, M. Zérah, C. Nihoul Fékété, S. Lyonnet

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism

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L. de Pontual, A. Pelet, M. Clement-Ziza, D. Trochet, S. E. Antonarakis, T. Attie-Bitach, P. L. Beales, J.-L. Blouin, F. Dastot-Le Moal, H. Dollfus, M. Goossens, N. Katsanis, R. Touraine, J. Feingold, A. Munnich and 2 other authors

Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease

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Delphine Trochet, Loïc de Pontual, Boris Keren, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel

ORCID

Polyalanine expansions might not result from unequal crossing-over

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2006 M‐L-L. Jacquemont, D. Sanlaville, R. Redon

ORCID

, O. Raoul, V. Cormier-Daire

ORCID

, S. Lyonnet, J. Amiel

ORCID

, M. Le Merrer, M. Le Merrer, D. Heron, M‐C-C. de Blois, M. Prieur, M. Vekemans, N. P. Carter, A. Munnich and 2 other authors

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

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Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel

ORCID

, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, H. van Esch, David Geneviève, Valérie Cormier-Daire

ORCID

, Hilde van Esch

ORCID

, Jean-Pierre Fryns, L. B. A. de Vries, Ben C. J. Hamel, Erik A. Sistermans, Bert B. A. de Vries and 3 other authors

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Jeanne Amiel

ORCID

Molecular bases of human neurocristopathies.

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This paper was not found in any repository, but could be made available legally by the author.

2005 Cheryl R. Holbrook, Louise M. O’Brien, Mary Vanderlaan, Jeanne Amiel

ORCID

, David Gozal

Autonomic Function in Children With Congenital Central Hypoventilation Syndrome and Their Families^*

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G. Pinto, V. Abadie, R. Mesnage, J. Blustajn, S. Cabrol, L. Hertz Pannier, J. Amiel

ORCID

, S. Lyonnet, A. M. Bertrand, R. Rappaport, I. Netchine, A. A. Fanaroff

CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development

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Damien Sanlaville, David Genevieve, Céline Bernardin, Jeanne Amiel

ORCID

, Clarisse Baumann, Marie-Christine de Blois, Valérie Cormier-Daire

ORCID

, Bénédicte Gérard, Marion Gérard, Martine Le Merrer, Martine Le Merrer, Philippe Parent, Fabienne Prieur, Marguerite Prieur, Odile Raoul and 8 other authors

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

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Delphine Trochet, David Gozal, Louise M. O'Brien, Ha Trang, Agneta Nordenskjöld, Béatrice Laudier, Pär-Johan Svensson, Sabine Uhrig, Trevor Cole, Arnold Munnich, Claude Gaultier, Jeanne Amiel

ORCID

, Stanislas Lyonnet

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

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Ha Trang, Michel Dehan, François Beaufils, Isabelle Zaccaria, Jeanne Amiel

ORCID

, Claude Gaultier

The French Congenital Central Hypoventilation Syndrome Registry

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