Dorothee Cailley

Dorothee Cailley

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Dorothee Cailley

Dorothee Cailley

Publications by authors named "Dorothee Cailley"

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

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.

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http://dx.doi.org/10.1111/pcmr.12408DOI Listing
January 2016

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

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.

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http://dx.doi.org/10.1038/ejhg.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297892PMC
February 2015

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.

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.

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http://dx.doi.org/10.1111/pcmr.12173DOI Listing
January 2014

Prenatal diagnosis using array-CGH: a French experience.

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

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

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http://dx.doi.org/10.1016/j.ejmg.2013.02.003DOI Listing
July 2013

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

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

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

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http://dx.doi.org/10.1016/j.ejmg.2011.11.006DOI Listing
February 2012

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

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.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121200002
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http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012

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

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