Publications by authors named "Dorothee Cailley"

14Publications

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Authors:
Fanny Morice-Picard Eulalie Lasseaux Claudio Plaisant Dorothée Cailley Julie Bouron Caroline Rooryck Didier Lacombe Valérie Pelletier Dan Lipsker Yaumara Perdomo-Trujillo Hélène Dollfus Benoit Arveiler

Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.

Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.

View Article and Find Full Text PDF
January 2016

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Authors:
Eric Bieth Sanaa Eddiry Véronique Gaston Françoise Lorenzini Alexandre Buffet Françoise Conte Auriol Catherine Molinas Dorothée Cailley Caroline Rooryck Benoit Arveiler Jérome Cavaillé Jean Pierre Salles Maïthé Tauber

Eur J Hum Genet 2015 Feb 11;23(2):252-5. Epub 2014 Jun 11.

1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France [3] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.

View Article and Find Full Text PDF
February 2015

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.

Authors:
Marie-Laure Vuillaume Sophie Naudion Guillaume Banneau Gwenaelle Diene Audrey Cartault Dorothée Cailley Julie Bouron Jérôme Toutain Georges Bourrouillou Adeline Vigouroux Laurence Bouneau Fabienne Nacka Isabelle Kieffer Benoit Arveiler Anja Knoll-Gellida Patrick J Babin Eric Bieth Béatrice Jouret Sophie Julia Pierre Sarda David Geneviève Laurence Faivre Didier Lacombe Pascal Barat Maithé Tauber Marie-Ange Delrue Caroline Rooryck

Am J Med Genet A 2014 Aug 29;164A(8):1965-75. Epub 2014 Apr 29.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares : Génétique et Métabolisme (MRGM), EA 4576, Bordeaux, France.

View Article and Find Full Text PDF
August 2014

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Authors:
Martine Doco-Fenzy Camille Leroy Anouck Schneider Florence Petit Marie-Ange Delrue Joris Andrieux Laurence Perrin-Sabourin Emilie Landais Azzedine Aboura Jacques Puechberty Manon Girard Magali Tournaire Elodie Sanchez Caroline Rooryck Agnès Ameil Michel Goossens Philippe Jonveaux Geneviève Lefort Laurence Taine Dorothée Cailley Dominique Gaillard Bruno Leheup Pierre Sarda David Geneviève

Eur J Hum Genet 2014 Apr 16;22(4):471-9. Epub 2013 Oct 16.

Département de Génétique Médicale, CHRU Montpellier, Faculté de Médecine de Montpellier-Nimes, Université Montpellier 1, Montpellier, France.

View Article and Find Full Text PDF
April 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Authors:
Fanny Morice-Picard Eulalie Lasseaux Dorothée Cailley Audrey Gros Jérome Toutain Claudio Plaisant Delphine Simon Stéphane François Brigitte Gilbert-Dussardier Josseline Kaplan Caroline Rooryck Didier Lacombe Benoit Arveiler

Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.

View Article and Find Full Text PDF
January 2014

Prenatal diagnosis using array-CGH: a French experience.

Authors:
Caroline Rooryck Jérôme Toutain Dorothée Cailley Julie Bouron Jacques Horovitz Didier Lacombe Benoit Arveiler Robert Saura

Eur J Med Genet 2013 Jul 20;56(7):341-5. Epub 2013 Feb 20.

CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France.

View Article and Find Full Text PDF
July 2013

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Authors:
Gaelle Thierry Claire Bénéteau Olivier Pichon Elisabeth Flori Bertrand Isidor Françoise Popelard Marie-Ange Delrue Laetitia Duboscq-Bidot Ann-Charlotte Thuresson Bregje W M van Bon Dorothée Cailley Caroline Rooryck Agathe Paubel Corinne Metay Anne Dusser Laurent Pasquier Mylène Béri Céline Bonnet Sylvie Jaillard Christèle Dubourg Bassim Tou Marie-Pierre Quéré Cecilia Soussi-Zander Annick Toutain Didier Lacombe Benoit Arveiler Bert B A de Vries Philippe Jonveaux Albert David Cédric Le Caignec

Am J Med Genet A 2012 Jul 7;158A(7):1633-40. Epub 2012 Jun 7.

CHU Nantes, Service de Génétique Médicale, Nantes, France.

View Article and Find Full Text PDF
July 2012

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Authors:
Sébastien Moutton Caroline Rooryck Jérôme Toutain Dorothée Cailley Julie Bouron Frédéric Villega Emmanuelle Taupiac Didier Lacombe Benoît Arveiler Cyril Goizet

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

View Article and Find Full Text PDF
February 2012

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Authors:
Aurore Brun Dorothée Cailley Jérôme Toutain Julie Bouron Benoit Arveiler Didier Lacombe Cyril Goizet Caroline Rooryck

Eur J Med Genet 2012 Feb 3;55(2):135-9. Epub 2011 Dec 3.

CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

View Article and Find Full Text PDF
February 2012

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

Authors:
Paquita Nurden Najet Debili Isabelle Coupry Marijke Bryckaert Ibtissam Youlyouz-Marfak Guilhem Solé Anne-Cécile Pons Eliane Berrou Frédéric Adam Alexandre Kauskot Jean-Marie Daniel Lamazière Philippe Rameau Patricia Fergelot Caroline Rooryck Dorothée Cailley Benoît Arveiler Didier Lacombe William Vainchenker Alan Nurden Cyril Goizet

Blood 2011 Nov 29;118(22):5928-37. Epub 2011 Sep 29.

Centre de Référence des Pathologies Plaquettaires, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France.

View Article and Find Full Text PDF
November 2011

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.

View Article and Find Full Text PDF
August 2011

Identification of a complex 17q rearrangement in a metanephric stromal tumor.

Authors:
Jérôme Toutain Yen VuPhi Martine Doco-Fenzy Fanny Morice-Picard Sophie Stanislas Elodie Laharanne Dorothée Cailley Pierre Vergnes Yves Perel Liliane Boccon-Gibod Colette Deminiere Laurence Taine

Cancer Genet 2011 Jun;204(6):340-3

Service de Génétique Médicale, CHU de Bordeaux, France.

View Article and Find Full Text PDF
June 2011

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

Authors:
Caroline Rooryck Fanny Morice-Picard Eulalie Lasseaux Dorothée Cailley Hélène Dollfus Sabine Defoort-Dhellemme Bénédicte Duban-Bedu Thomy J L de Ravel Alain Taieb Didier Lacombe Benoît Arveiler

Hum Genet 2011 Feb 18;129(2):199-208. Epub 2010 Nov 18.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux, France.

View Article and Find Full Text PDF
February 2011

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

Authors:
Caroline Rooryck Noui Souakri Dorothée Cailley Julie Bouron Cyril Goizet Marie-Ange Delrue Sandrine Marlin Feclad Didier Lacombe Benoît Arveiler

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

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

View Article and Find Full Text PDF
August 2010