Marie-Ange Delrue

Marie-Ange Delrue

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Marie-Ange Delrue

Marie-Ange Delrue

Publications by authors named "Marie-Ange Delrue"

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A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.

Am J Med Genet A 2017 Jul 27;173(7):1887-1890. Epub 2017 Apr 27.

Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38119DOI Listing
July 2017

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Pediatr Dermatol 2013 Nov-Dec;30(6):665-73

Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France; Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France.

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http://doi.wiley.com/10.1111/pde.12171
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http://dx.doi.org/10.1111/pde.12171DOI Listing
August 2014

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Brachydactyly type A1 with short humerus and associated skeletal features.

Am J Med Genet A 2010 Dec;152A(12):3016-21

Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.33761DOI Listing
December 2010

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Am J Med Genet A 2010 Aug;152A(8):1984-9

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://doi.wiley.com/10.1002/ajmg.a.33491
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http://dx.doi.org/10.1002/ajmg.a.33491DOI Listing
August 2010

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

J Autism Dev Disord 2009 Sep 7;39(9):1252-60. Epub 2009 Apr 7.

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, University Victor Segalen, Bordeaux 2, France.

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http://dx.doi.org/10.1007/s10803-009-0733-4DOI Listing
September 2009

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Am J Med Genet A 2008 May;146A(9):1218-20

Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32273DOI Listing
May 2008

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Eur J Hum Genet 2007 Aug 2;15(8):843-7. Epub 2007 May 2.

Laboratoire de Génétique Humaine, Développement et Cancer (EA 3669), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201847DOI Listing
August 2007

A new case of VACTERL association with unilateral amelia of upper limb.

Clin Dysmorphol 2007 Jul;16(3):185-7

Department of Pathology, Pellegrin Hospital, Pellegrin-Childrens University Hospital, University Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1097/MCD.0b013e3280fa81f1DOI Listing
July 2007

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.

Hum Mutat 2006 Nov;27(11):1143-50

Laboratoire de Génétique Humaine, Développement et Cancer (Equipe d'Accueil 3669), Université Victor Segalen Bordeaux2, Bordeaux, France.

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http://dx.doi.org/10.1002/humu.20398DOI Listing
November 2006

Behavioral and temperamental features of children with Costello syndrome.

Am J Med Genet A 2006 May;140(9):968-74

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, Bordeaux2 University, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.31169DOI Listing
May 2006

Costello syndrome and neurological abnormalities.

Am J Med Genet A 2003 Dec;123A(3):301-5

Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.20330DOI Listing
December 2003