Publications by authors named "Claudine Rieubland"

21Publications

Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Int J Legal Med 2019 Nov 27;133(6):1733-1742. Epub 2019 Aug 27.

Department of Cardiology, Inselspital, University Hospital Bern, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-019-02141-xDOI Listing
November 2019

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Eur J Med Genet 2014 Sep 13;57(9):520-3. Epub 2014 Jun 13.

Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.06.003DOI Listing
September 2014

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Epilepsia 2012 Dec 27;53(12):2128-34. Epub 2012 Sep 27.

Division of Pediatric Neurology, Department of Pediatrics, Inselspital, University of Berne, Berne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2012.03676.xDOI Listing
December 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.

View Article

Download full-text PDF

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

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Am J Med Genet A 2011 Jan;155A(1):233-4

Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33776DOI Listing
January 2011

Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

Mol Vis 2010 Dec 18;16:2847-9. Epub 2010 Dec 18.

INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012651PMC
December 2010

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Eur J Med Genet 2010 Sep-Oct;53(5):294-8. Epub 2010 Jun 11.

Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.06.005DOI Listing
January 2011

Two cases of trisomy 16 mosaicism ascertained postnatally.

Am J Med Genet A 2009 Jul;149A(7):1523-8

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.32925
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32925DOI Listing
July 2009

Uncombable hair syndrome: a clinical report.

Eur J Med Genet 2007 Jul-Aug;50(4):309-14. Epub 2007 Apr 11.

Service de Génétique Médicale, CHUV, rue Pierre Decker, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.03.002DOI Listing
September 2007

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Cancer Res 2003 Sep;63(17):5615-21

AP/HP, Hôpital Européen Georges Pompidou, Département de Génétique Moléculaire, Paris.

View Article

Download full-text PDF

Source
September 2003

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

J Clin Endocrinol Metab 2002 Oct;87(10):4771-4

Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, Assistance Publique/Hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2002-020525DOI Listing
October 2002