Yves Alembik

Yves Alembik

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Yves Alembik

Yves Alembik

Publications by authors named "Yves Alembik"

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36Publications

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center.

Orphanet J Rare Dis 2019 01 11;14(1):15. Epub 2019 Jan 11.

Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Hôpitaux Universitaires de Strasbourg, 1, place de l'Hôpital, 67091, Strasbourg, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0989-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329099PMC
January 2019

Associated anomalies in cases with anorectal anomalies.

Am J Med Genet A 2018 12 12;176(12):2646-2660. Epub 2018 Dec 12.

Laboratoire de Génétique Médicale, Faculté de Médecine, Université de Strasbourg, Strasbourg cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.40530DOI Listing
December 2018

Associated anomalies in cases with esophageal atresia.

Am J Med Genet A 2017 Aug 3;173(8):2139-2157. Epub 2017 Jun 3.

Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1002/ajmg.a.38303DOI Listing
August 2017

Associated anomalies in cases with anotia and microtia.

Eur J Med Genet 2016 Dec 3;59(12):607-614. Epub 2016 Nov 3.

Laboratoire de Genetique Medicale, 11 rue Humann, Faculte de Medecine, 67085 Strasbourg Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.10.012DOI Listing
December 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 2016

Associated congenital anomalies among cases with Down syndrome.

Eur J Med Genet 2015 Dec 11;58(12):674-80. Epub 2015 Nov 11.

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.11.003DOI Listing
December 2015

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Eur J Med Genet 2015 Sep 15;58(9):479-87. Epub 2015 Jul 15.

Laboratoire de Génétique Médicale INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine de Strasbourg, Université De Strasbourg, Strasbourg, France; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.004DOI Listing
September 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

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http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

Associated noncardiac congenital anomalies among cases with congenital heart defects.

Eur J Med Genet 2015 Feb 12;58(2):75-85. Epub 2014 Dec 12.

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.12.002DOI Listing
February 2015

Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?

Int J Cardiol 2014 4;172(1):e94-5. Epub 2014 Jan 4.

Department of vascular medicine and clinical pharmacology, Strasbourg University Hospital, France.

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https://linkinghub.elsevier.com/retrieve/pii/S01675273130234
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http://dx.doi.org/10.1016/j.ijcard.2013.12.131DOI Listing
November 2014

Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT).

Eur J Med Genet 2014 Jul 10;57(7):322-8. Epub 2014 May 10.

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.014DOI Listing
July 2014

Associated malformations among infants with anophthalmia and microphthalmia.

Birth Defects Res A Clin Mol Teratol 2012 Mar 13;94(3):147-52. Epub 2012 Jan 13.

Laboratoire de Genetique Medicale, Strasbourg, France.

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http://dx.doi.org/10.1002/bdra.22877DOI Listing
March 2012

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

J Peripher Nerv Syst 2012 Mar;17(1):112-22

APHP, Center for reference of neuromuscular diseases Paris-Est, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, Paris, France.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00382.xDOI Listing
March 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

Associated malformations among infants with neural tube defects.

Am J Med Genet A 2011 Mar 18;155A(3):565-8. Epub 2011 Feb 18.

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1002/ajmg.a.33886DOI Listing
March 2011

Associated malformations in patients with limb reduction deficiencies.

Eur J Med Genet 2010 Sep-Oct;53(5):286-90. Epub 2010 Jul 27.

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000079
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http://dx.doi.org/10.1016/j.ejmg.2010.07.012DOI Listing
January 2011

Associated malformations in patients with esophageal atresia.

Eur J Med Genet 2009 Sep-Oct;52(5):287-90. Epub 2009 May 4.

Laboratoire de Génétique Médicale, 11, rue Humann, 67085 Strasbourg Cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900056
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http://dx.doi.org/10.1016/j.ejmg.2009.04.004DOI Listing
November 2009

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

Orphanet J Rare Dis 2009 Feb 21;4. Epub 2009 Feb 21.

Department of Paediatric Dentistry, Faculty of Dentistry, University of Strasbourg, France.

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http://dx.doi.org/10.1186/1750-1172-4-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654544PMC
February 2009

Omphalocele and gastroschisis and associated malformations.

Am J Med Genet A 2008 May;146A(10):1280-5

Génétique Médicale, Faculté de Medecine, Strasbourg, France.

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http://doi.wiley.com/10.1002/ajmg.a.32297
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http://dx.doi.org/10.1002/ajmg.a.32297DOI Listing
May 2008

Associated malformations in patients with oral clefts.

Am J Med Genet A 2007 Oct;143A(20):2463-5

Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.

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http://dx.doi.org/10.1002/ajmg.a.31764DOI Listing
October 2007

Study of placenta of children born with congenital malformations.

Ann Genet 2003 Jan-Mar;46(1):1-5

Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.

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http://dx.doi.org/10.1016/s0003-3995(03)00009-1DOI Listing
February 2004

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Am J Med Genet A 2003 Dec;123A(2):204-7

Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.20289
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http://dx.doi.org/10.1002/ajmg.a.20289DOI Listing
December 2003

First model of spontaneous vagal hyperreactivity and its mode of genetic transmission.

Circulation 2002 Oct;106(18):2301-4

Laboratoire de Neurobiologie et Pharmacologie Cardiovasculaire, Faculté de Médecine, Université Louis Pasteur, Strasbourg, France.

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http://dx.doi.org/10.1161/01.cir.0000039155.49920.1fDOI Listing
October 2002

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Am J Med Genet 2002 May;109(3):211-7

Fédération de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/ajmg.10348DOI Listing
May 2002