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Publications Authored by Jacqueline Vigneron | PubFacts
Jacqueline Vigneron

Jacqueline Vigneron

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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

Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?

Birth Defects Res A Clin Mol Teratol 2015 Apr 24;103(4):306-10. Epub 2015 Mar 24.

Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/bdra.23367DOI Listing
April 2015

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.

Am J Med Genet A 2012 Jul 29;158A(7):1782-4. Epub 2012 May 29.

Laboratoire de Génétique, EA4368, Nancy Université, CHU Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.35386DOI Listing
July 2012

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Ophthalmic Genet 2011 Nov 5;32(4):250-5. Epub 2011 Jul 5.

Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.3109/13816810.2011.592176DOI Listing
November 2011

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Eur J Hum Genet 2010 Oct 26;18(10):1166-9. Epub 2010 May 26.

Service de Biochimie-Génétique et Inserm U955 Equipe 11, Groupe Hospitalier Henri Mondor-Albert Chenevier, APHP, Créteil, France.

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http://dx.doi.org/10.1038/ejhg.2010.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987450PMC
October 2010