Renaud Touraine

Renaud Touraine

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Renaud Touraine

Renaud Touraine

Publications by authors named "Renaud Touraine"

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Dev Med Child Neurol 2019 Aug 13. Epub 2019 Aug 13.

Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare, Pôle Femme et Enfant, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1111/dmcn.14332DOI Listing
August 2019

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.

Epilepsy Behav 2019 Jul 9;96:23-27. Epub 2019 May 9.

Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183082
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http://dx.doi.org/10.1016/j.yebeh.2019.04.027DOI Listing
July 2019

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Hum Mutat 2017 12 12;38(12):1660-1665. Epub 2017 Oct 12.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.23343DOI Listing
December 2017

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Am J Med Genet A 2017 Nov 21;173(11):3114-3117. Epub 2017 Sep 21.

Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.

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http://dx.doi.org/10.1002/ajmg.a.38475DOI Listing
November 2017

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Am J Med Genet A 2017 Sep 27;173(9):2522-2527. Epub 2017 Jul 27.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38342DOI Listing
September 2017

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

Eur J Med Genet 2017 Jun 25;60(6):299-302. Epub 2017 Mar 25.

Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.009DOI Listing
June 2017

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Clin Res Hepatol Gastroenterol 2016 Dec 4;40(6):e65-e67. Epub 2016 Oct 4.

Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2015.12.018DOI Listing
December 2016

Impact of genetic predisposition of de novo uveitis with etanercept in ankylosing spondylitis.

Ann Rheum Dis 2015 Mar 2;74(3):e22. Epub 2014 Dec 2.

Rheumatology Department, University Hospital of Saint-Etienne, Saint-Etienne, France INSERM U1059/LBTO, Université de Lyon - Université Jean Monnet, Saint-Etienne, France.

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http://dx.doi.org/10.1136/annrheumdis-2014-206776DOI Listing
March 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Am J Med Genet A 2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

Association of the IL-10 receptor A536G (S138G) loss-of-function variant with recurrent miscarriage.

Am J Reprod Immunol 2014 Jul 1;72(1):1-4. Epub 2014 Apr 1.

Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.

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http://dx.doi.org/10.1111/aji.12227DOI Listing
July 2014

Plasminogen activator inhibitor 1 4G/5G and -844G/A variants in idiopathic recurrent pregnancy loss.

Am J Reprod Immunol 2013 Sep 22;70(3):246-52. Epub 2013 Mar 22.

Research unit of Hematological and Autoimmune Diseases, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.

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http://dx.doi.org/10.1111/aji.12116DOI Listing
September 2013

Natural history of Barth syndrome: a national cohort study of 22 patients.

Orphanet J Rare Dis 2013 May 8;8:70. Epub 2013 May 8.

AP-HP, Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Service d'Hémato-oncologie Pédiatrique Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656783PMC
May 2013

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Hum Mutat 2011 Dec 19;32(12):1436-49. Epub 2011 Sep 19.

INSERM U955, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1002/humu.21583DOI Listing
December 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.

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

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Am J Med Genet A 2010 May;152A(5):1278-82

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.33316DOI Listing
May 2010

[Problems posed by genetic diseases. Chromosomal disorders, trisomy 21].

Rev Prat 2010 May;60(5):709-14

Service de génétique clinique, chromosomique et moléculaire, Centre de référence des anomalies du développement embryonnaire Centre-Est, CHU de Saint-Etienne, hôpital Nord, 42055 Saint-Etienne Cedex 2, France.

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May 2010

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Ann Neurol 2009 Jan;65(1):114-8

Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France.

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http://dx.doi.org/10.1002/ana.21579DOI Listing
January 2009

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

Am J Med Genet A 2008 Apr;146A(8):1038-41

Hôpital Universitaire des Enfants Reine Fabiola, ULB, Pediatric Clinical Genetics, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32247DOI Listing
April 2008

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Eur J Med Genet 2007 May-Jun;50(3):200-8. Epub 2007 Feb 20.

Laboratoire de Génétique, Service de Génétique Moléculaire et Clinique, Bâtiment 7, Hôpital Edouard Herriot, Lyon, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.02.001DOI Listing
July 2007

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Am J Med Genet A 2006 Oct;140(20):2212-5

Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.31400
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31400DOI Listing
October 2006

Two fast methods for detection of Y-microdeletions.

Fertil Steril 2005 Sep;84(3):740-2

Laboratoire de Biologie de la Reproduction, GIMAP, Saint Etienne, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.03.050DOI Listing
September 2005

Y chromosome microdeletion screening in infertile men in France: a survey of French practice based on 88 IVF centres.

Hum Reprod 2004 Apr 12;19(4):788-93. Epub 2004 Feb 12.

Laboratoire de Biologie de la Reproduction, Hôpital Nord, 42055 Saint Etienne, Lyon, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/deh157DOI Listing
April 2004

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Am J Med Genet A 2003 Sep;122A(1):37-41

Center for Molecular and Cellular Genetics, University Lyon I, Villeurbanne, France.

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http://dx.doi.org/10.1002/ajmg.a.20221DOI Listing
September 2003

[Sjogren-Larsson syndrome: two cases with delayed diagnosis].

Ann Med Interne (Paris) 2002 Jun;153(4):280-2

Service de Dermatologie, Hôpital Morvan, Cedex, France.

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June 2002

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).

Eur J Hum Genet 2002 Jan;10(1):2-5

Institut de Génétique Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200738DOI Listing
January 2002