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Publications Authored by Elisabeth Flori | PubFacts
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MSX2 Gene Duplication in a Patient with Eye Development Defects.

Ophthalmic Genet 2015 25;36(4):353-8. Epub 2014 Mar 25.

a Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil , Strasbourg , France .

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http://dx.doi.org/10.3109/13816810.2014.886270DOI Listing
July 2016

Clinical utility gene card for: Arterial tortuosity syndrome.

Eur J Hum Genet 2015 Oct 21;23(10). Epub 2015 Jan 21.

AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592088PMC
October 2015

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Mol Syndromol 2014 Dec 11;5(6):293-8. Epub 2014 Sep 11.

Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), UMR 7104 and INSERM U964, UdS, Illkirch, France.

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http://dx.doi.org/10.1159/000366252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281576PMC
December 2014

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

J Med Genet 2014 Feb 11;51(2):132-6. Epub 2013 Sep 11.

Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2013-101785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966300PMC
February 2014

Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus.

Eur J Med Genet 2012 Apr 23;55(4):269-73. Epub 2012 Feb 23.

Service de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.02.001DOI Listing
April 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

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

Proc Natl Acad Sci U S A 2009 Feb 3;106(6):1820-5. Epub 2009 Feb 3.

Laboratoire Physiopathologie des Syndromes Rares Héréditaires, AVENIR-Inserm, EA3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 11 rue Humann, 67085 Strasbourg, France.

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http://dx.doi.org/10.1073/pnas.0812518106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635307PMC
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http://dx.doi.org/10.1002/pd.342DOI Listing
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March 2002