Publications by authors named "Anne Moncla"

42Publications

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Am J Med Genet A 2019 07 3;179(7):1351-1356. Epub 2019 May 3.

Clinique de Génétique Guy Fontaine, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.61177DOI Listing
July 2019

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

Whole ARX gene duplication is compatible with normal intellectual development.

Am J Med Genet A 2014 Sep 7;164A(9):2324-7. Epub 2014 Jul 7.

APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36564
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http://dx.doi.org/10.1002/ajmg.a.36564DOI Listing
September 2014

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Eur J Med Genet 2013 May 27;56(5):274-7. Epub 2013 Feb 27.

Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, Hôpital Timone - Enfants, Assistance Publique - Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.02.005DOI Listing
May 2013

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Eur J Hum Genet 2013 Dec 20;21(12):1457-61. Epub 2013 Feb 20.

Laboratoire de Génétique, EA 4368, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

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http://www.nature.com/articles/ejhg201322
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http://dx.doi.org/10.1038/ejhg.2013.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831065PMC
December 2013

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/humu.22216DOI Listing
January 2013

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Eur J Hum Genet 2009 Oct 8;17(10):1216-21. Epub 2009 Apr 8.

Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France.

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http://dx.doi.org/10.1038/ejhg.2009.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986637PMC
October 2009

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Eur J Med Genet 2008 Jan-Feb;51(1):68-73. Epub 2007 Nov 22.

INSERM U679, Hôpital de la Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.002DOI Listing
June 2008

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

Eur J Neurosci 2007 Apr;25(7):1915-22

INSERM, U491, Faculté de Médecine de La Timone, Marseille, F-13385, France.

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http://dx.doi.org/10.1111/j.1460-9568.2007.05466.xDOI Listing
April 2007

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Eur J Med Genet 2006 Jul-Aug;49(4):313-22. Epub 2005 Dec 20.

Laboratoire de Génétique, EA 3441, CHU Brabois, avenue du Morvan, 54511 Vandoeuvre-les-Nancy cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.11.002DOI Listing
September 2006

The incidence of Rett syndrome in France.

Pediatr Neurol 2006 May;34(5):372-5

University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique/Unitré Mixte de Reserche 8104, Paris, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.013DOI Listing
May 2006

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Eur J Hum Genet 2002 Jan;10(1):86-9

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200761DOI Listing
January 2002