Publications by authors named "Anne Dieux"

13Publications

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Authors:
Anne-Sophie Jourdain Florence Petit Marie-Françoise Odou Malika Balduyck Perrine Brunelle William Dufour Simon Boussion Elise Brischoux-Boucher Cindy Colson Anne Dieux Marion Gérard Jamal Ghoumid Fabienne Giuliano Alice Goldenberg Philippe Khau Van Kien Daphné Lehalle Gilles Morin Sébastien Moutton Thomas Smol Clémence Vanlerberghe Sylvie Manouvrier-Hanu Fabienne Escande

Hum Mutat 2020 01 23;41(1):222-239. Epub 2019 Sep 23.

Service de Biochimie et Biologie Moléculaire, CHU Lille, Lille, France.

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January 2020

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Authors:
Varoona Bizaoui Caroline Michot Geneviève Baujat Cyril Amouroux Sabine Baron Yline Capri Martine Cohen-Solal Corinne Collet Anne Dieux David Geneviève Bertrand Isidor Sophie Monnot Massimiliano Rossi Anya Rothenbuhler Elise Schaefer Valérie Cormier-Daire

Clin Genet 2019 10 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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October 2019

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Authors:
Nicolas Lebrun Irina Giurgea Alice Goldenberg Anne Dieux Alexandra Afenjar Jamal Ghoumid Bertrand Diebold Léo Mietton Audrey Briand-Suleau Pierre Billuart Thierry Bienvenu

Eur J Hum Genet 2018 01 4;26(1):107-116. Epub 2017 Dec 4.

Inserm, Institut Cochin, U1016, Paris, France.

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January 2018

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Authors:
Ange-Line Bruel Brunella Franco Yannis Duffourd Julien Thevenon Laurence Jego Estelle Lopez Jean-François Deleuze Diane Doummar Rachel H Giles Colin A Johnson Martijn A Huynen Véronique Chevrier Lydie Burglen Manuela Morleo Isabelle Desguerres Geneviève Pierquin Bérénice Doray Brigitte Gilbert-Dussardier Bruno Reversade Elisabeth Steichen-Gersdorf Clarisse Baumann Inusha Panigrahi Anne Fargeot-Espaliat Anne Dieux Albert David Alice Goldenberg Ernie Bongers Dominique Gaillard Jesús Argente Bernard Aral Nadège Gigot Judith St-Onge Daniel Birnbaum Shubha R Phadke Valérie Cormier-Daire Thibaut Eguether Gregory J Pazour Vicente Herranz-Pérez Jaclyn S Goldstein Laurent Pasquier Philippe Loget Sophie Saunier André Mégarbané Olivier Rosnet Michel R Leroux John B Wallingford Oliver E Blacque Maxence V Nachury Tania Attie-Bitach Jean-Baptiste Rivière Laurence Faivre Christel Thauvin-Robinet

J Med Genet 2017 06 13;54(6):371-380. Epub 2017 Mar 13.

FHU-TRANSLAD, Université de Bourgogne/CHU Dijon, Dijon, France.

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June 2017

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Authors:
Megana K Prasad Véronique Geoffroy Serge Vicaire Bernard Jost Michael Dumas Stéphanie Le Gras Marzena Switala Barbara Gasse Virginie Laugel-Haushalter Marie Paschaki Bruno Leheup Dominique Droz Amelie Dalstein Adeline Loing Bruno Grollemund Michèle Muller-Bolla Séréna Lopez-Cazaux Maryline Minoux Sophie Jung Frédéric Obry Vincent Vogt Jean-Luc Davideau Tiphaine Davit-Beal Anne-Sophie Kaiser Ute Moog Béatrice Richard Jean-Jacques Morrier Jean-Pierre Duprez Sylvie Odent Isabelle Bailleul-Forestier Monique Marie Rousset Laure Merametdijan Annick Toutain Clara Joseph Fabienne Giuliano Jean-Christophe Dahlet Aymeric Courval Mustapha El Alloussi Samir Laouina Sylvie Soskin Nathalie Guffon Anne Dieux Bérénice Doray Stephanie Feierabend Emmanuelle Ginglinger Benjamin Fournier Muriel de la Dure Molla Yves Alembik Corinne Tardieu François Clauss Ariane Berdal Corinne Stoetzel Marie Cécile Manière Hélène Dollfus Agnès Bloch-Zupan

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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February 2016

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Authors:
Agnès Taillandier Christelle Domingues Clémence De Cazanove Valérie Porquet-Bordes Sophie Monnot Tina Kiffer-Moreira Agnès Rothenbuhler Pascal Guggenbuhl Catherine Cormier Geneviève Baujat Françoise Debiais Yline Capri Martine Cohen-Solal Philippe Parent Jean Chiesa Anne Dieux Florence Petit Joelle Roume Monica Isnard Valérie Cormier-Daire Agnès Linglart José Luis Millán Jean-Pierre Salles Christine Muti Brigitte Simon-Bouy Etienne Mornet

Mol Genet Metab 2015 Nov 30;116(3):215-20. Epub 2015 Sep 30.

Unité de Génétique Constitutionnelle, Centre Hospitalier de Versailles, 78150 Le Chesnay, France. Electronic address:

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November 2015

Association between Kniest dysplasia and chondrosarcoma in a child.

Authors:
Audrey Hochart Anne Dieux Paul Coucke Damien Fron Pierre Fayoux Pierre Labalette Nathalie Boutry Fabienne Escande Sébastien Aubert Florence Renaud Nathalie Rocourt Matthieu Vinchon Pierre Leblond

Am J Med Genet A 2015 Dec 8;167A(12):3204-8. Epub 2015 Sep 8.

Pediatric Oncology Unit, Oscar Lambret Center, Lille, France.

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December 2015

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Authors:
Nicolas Chatron Véronique Haddad Joris Andrieux Julie Désir Odile Boute Anne Dieux Clarisse Baumann Séverine Drunat Marion Gérard Céline Bonnet Bruno Leheup Marianne Till Massimiliano Rossi Elisabeth Flori Yves Alembik Helen Stewart Joanna McParland Laura Bernardini Pia Castelluccio Laura Roos Zeynep Tümer Kerry Fagan Anna Hackett Nicole Bain Arie van Haeringen Claudia Ruivenkamp Brigitte Benzacken Damien Sanlaville Patrick Edery Azzedine Aboura Caroline Schluth-Bolard

Am J Med Genet A 2015 May 25;167A(5):1008-17. Epub 2015 Feb 25.

Hospices Civils de Lyon, Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Bron, France.

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May 2015

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Authors:
Paulien A Terhal Rutger Jan A J Nievelstein Eva J J Verver Vedat Topsakal Paula van Dommelen Kristien Hoornaert Martine Le Merrer Andreas Zankl Marleen E H Simon Sarah F Smithson Carlo Marcelis Bronwyn Kerr Jill Clayton-Smith Esther Kinning Sahar Mansour Frances Elmslie Linda Goodwin Annemarie H van der Hout Hermine E Veenstra-Knol Johanna C Herkert Allan M Lund Raoul C M Hennekam André Mégarbané Melissa M Lees Louise C Wilson Alison Male Jane Hurst Yasemin Alanay Göran Annerén Regina C Betz Ernie M H F Bongers Valerie Cormier-Daire Anne Dieux Albert David Mariet W Elting Jenneke van den Ende Andrew Green Johanna M van Hagen Niels Thomas Hertel Muriel Holder-Espinasse Nicolette den Hollander Tessa Homfray Hanne D Hove Susan Price Annick Raas-Rothschild Marianne Rohrbach Barbara Schroeter Mohnish Suri Elizabeth M Thompson Edward S Tobias Annick Toutain Maaike Vreeburg Emma Wakeling Nine V Knoers Paul Coucke Geert R Mortier

Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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March 2015

The clinical significance of small copy number variants in neurodevelopmental disorders.

Authors:
Reza Asadollahi Beatrice Oneda Pascal Joset Silvia Azzarello-Burri Deborah Bartholdi Katharina Steindl Marie Vincent Joana Cobilanschi Heinrich Sticht Rosa Baldinger Regina Reissmann Irene Sudholt Christian T Thiel Arif B Ekici André Reis Emilia K Bijlsma Joris Andrieux Anne Dieux David FitzPatrick Susanne Ritter Alessandra Baumer Beatrice Latal Barbara Plecko Oskar G Jenni Anita Rauch

J Med Genet 2014 Oct 8;51(10):677-88. Epub 2014 Aug 8.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

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October 2014

Phenotypic variability of prenatally presenting Gaucher's disease.

Authors:
Juliette Beaujot Sylvie Joriot Anne Dieux Pascal Vaast Hélène Franquet-Ansart Anne-Sylvie Valat Philippe Deruelle Muriel Holder-Espinasse Louise Devisme

Prenat Diagn 2013 Oct 4;33(10):1004-6. Epub 2013 Jul 4.

Department of Pathology, University Hospital, CHRU and Lille II University, Lille, France.

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October 2013

Radiographic features of osteogenesis imperfecta.

Authors:
Armelle Renaud Julie Aucourt Jacques Weill Julien Bigot Anne Dieux Louise Devisme Antoine Moraux Nathalie Boutry

Insights Imaging 2013 Aug 19;4(4):417-29. Epub 2013 May 19.

Department of Pediatric Radiology, Jeanne de Flandre Hospital, Lille 2 University, University Hospital of Lille, CHRU de Lille, 59037, Lille, France.

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August 2013

Oral manifestations of patients with Kenny-Caffey Syndrome.

Authors:
Youssra Moussaid Didier Griffiths Béatrice Richard Anne Dieux Martine Lemerrer Juliane Léger Didier Lacombe Isabelle Bailleul-Forestier

Eur J Med Genet 2012 Aug-Sep;55(8-9):441-5. Epub 2012 Mar 30.

Paediatric Dentistry, Garancière Paris Diderot University, France.

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November 2012