Publications by authors named "Anne Moncla"

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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, Anne Moncla

J Med Genet· May 2020

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Growth charts in Kabuki syndrome 1.
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Anne Moncla

Am J Med Genet A· March 2020

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WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Perrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, Jelena Martinovic, Juliette Dupont, Anne Moncla

Am J Med Genet A· July 2019

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anne Moncla

Eur J Hum Genet· April 2019

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Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Anne Moncla

J Med Genet· June 2018

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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, Anne Moncla

Am J Med Genet A· January 2016

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Anne Moncla

Eur J Hum Genet· August 2015

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Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Anne Moncla

Am J Hum Genet· December 2014

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Whole ARX gene duplication is compatible with normal intellectual development.
Cornel Popovici, Tiffany Busa, Odile Boute, Ann-Charlotte Thuresson, Odile Perret, Anne Moncla

Am J Med Genet A· September 2014

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Frederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, Elodie Sanchez, Jacques Puechberty, Anne Moncla

Eur J Hum Genet· February 2014

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Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Essam Al Ageeli, Séverine Drunat, Catherine Delanoë, Laurence Perrin, Clarisse Baumann, Anne Moncla

Eur J Med Genet· January 2014

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Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
Céline Bonnet, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Anne Moncla

Eur J Hum Genet· December 2013

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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot, Carole Corsini, Damien Sanlaville, Clarisse Baumann, Annick Toutain, Anne Moncla

Eur J Med Genet· October 2013

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Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Jean-Benoît Courcet, Laurence Faivre, Caroline Michot, Antoine Burguet, Stéphanie Perez-Martin, Anne Moncla

J Pediatr· September 2013

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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances

Eur J Hum Genet· July 2013

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Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.
Cornel Popovici, Tiffany Busa, Chantal Missirian, Mathieu Milh, Anne Moncla

Eur J Med Genet· May 2013

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Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Carine Le Goff, Clémentine Mahaut, Armand Bottani, Berenice Doray, Alice Goldenberg, Anne Moncla

Hum Mutat· January 2013

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The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Jean-Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel-Paulet, Estelle Lopez, Anne Moncla

J Med Genet· December 2012

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Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Helene Maurey, Anne Moncla

Am J Med Genet A· July 2012

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Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, Didier Lacombe, Anne Moncla

Am J Med Genet A· February 2012

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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
Salima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, Bernard Aral, Chantal Missirian

J Med Genet· November 2011

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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, Anne Moncla

Eur J Med Genet· August 2011

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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.
Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon-Ravix, Bilal El-Waly, Anne Moncla

Eur J Hum Genet· December 2010

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Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
Salima El Chehadeh, Bernard Aral, Nadège Gigot, Christel Thauvin-Robinet, Anne Donzel, Anne Moncla

J Med Genet· August 2010

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Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.
Cécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, Anne Moncla, Mathieu Milh

J Med Genet· February 2010

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