Dominique Martin-Coignard

Dominique Martin-Coignard

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Dominique Martin-Coignard

Dominique Martin-Coignard

Publications by authors named "Dominique Martin-Coignard"

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30Publications

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Shwachman-Diamond syndrome: a case report.

Ann Biol Clin (Paris) 2018 Aug;76(4):435-438

Laboratoire d'hématologie, Centre hospitalier Le Mans, Le Mans, France.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ab
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http://dx.doi.org/10.1684/abc.2018.1358DOI Listing
August 2018

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

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Am J Hum Genet 2016 09 25;99(3):540-554. Epub 2016 Aug 25.

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Autism Research and Treatment and Program in Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011063PMC
September 2016

Karyotype is not dead (yet)!

Eur J Med Genet 2016 Jan 10;59(1):11-5. Epub 2015 Dec 10.

Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.016DOI Listing
January 2016

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 2015

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Haematologica 2014 Aug 24;99(8):1387-94. Epub 2014 Apr 24.

Department of Medicine and Haematology, University Hospital of Verona, Verona, Italy.

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http://dx.doi.org/10.3324/haematol.2014.105924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116839PMC
August 2014

Nephrogenic diabetes insipidus: treat with caution.

Pediatr Nephrol 2009 Sep 17;24(9):1761-3. Epub 2009 Apr 17.

Pediatric Intensive Care Unit and Department of Pediatrics, Centre Hospitalier du Mans, Le Mans, France.

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http://dx.doi.org/10.1007/s00467-009-1187-9DOI Listing
September 2009

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

J Clin Endocrinol Metab 2009 Sep 16;94(9):3467-71. Epub 2009 Jun 16.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1210/jc.2009-0226DOI Listing
September 2009

A new mutation in TP63 is associated with age-related pathology.

Eur J Hum Genet 2007 Nov 4;15(11):1115-20. Epub 2007 Jul 4.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201888DOI Listing
November 2007