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authFullName_s : Anne Moncla
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Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Cornel Popovici , Tiffany Busa , Chantal Missirian , Mathieu Milh , Anne Moncla , et al.
European Journal of Medical Genetics, 2013, 56 (5), pp.274-7. ⟨10.1016/j.ejmg.2013.02.005⟩
Journal articles inserm-00799062v1
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Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian , et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Carlos Cardoso , Amber Boys , Ellena Parrini , Cecile Mignon-Ravix , Jacinta M. Mcmahon , et al.
Neurology, 2009, 72 (9), pp.784-92. ⟨10.1212/01.wnl.0000336339.08878.2d⟩
Journal articles inserm-00483473v1

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Céline Bonnet , Asma Ali Khan , Emmanuel Bresso , Charlène Vigouroux , Mylène Béri , et al.
European Journal of Human Genetics, 2013, 21 (12), pp.1457 - 1461. ⟨10.1038/ejhg.2013.22⟩
Journal articles hal-01701919v1

TCF4 deletions in Pitt-Hopkins Syndrome.

Irina Giurgea , Chantal Missirian , Pierre Cacciagli , Sandra Whalen , Tessa Fredriksen , et al.
Human Mutation, 2008, 29 (11), pp.E242-51. ⟨10.1002/humu.20859⟩
Journal articles inserm-00325404v1
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Finger creases lend a hand in Kabuki syndrome.

Caroline Michot , Carole Corsini , Damien Sanlaville , Clarisse Baumann , Annick Toutain , et al.
European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles hal-00916763v1
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Laurence Desmyter , Michella Ghassibé , Nicole Revencu , Odile Boute , M. Lees , et al.
Mol Syndromol, 2010, 1 (2), pp.67-74. ⟨10.1159/000313786⟩
Journal articles inserm-00538240v1

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin , Huynh Cong , G. Mollet , Agnés Guichet , O. Gribouval , et al.
American Journal of Human Genetics, 2014, 95 (6), pp.637 - 48. ⟨10.1016/j.ajhg.2014.10.011⟩
Journal articles hal-03404021v1

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Estelle Lopez , Patrick Callier , Valérie Cormier-Daire , Didier Lacombe , Anne Moncla , et al.
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
Journal articles inserm-00662892v1
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Growth charts in Kabuki syndrome 1

Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , et al.
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Journal articles hal-03388687v1

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux , Martine Doco Fenzy , et al.
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal articles hal-01926555v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel , et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1