Anne Dieux-Coeslier

Anne Dieux-Coeslier

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Anne Dieux-Coeslier

Anne Dieux-Coeslier

Publications by authors named "Anne Dieux-Coeslier"

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27Publications

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Am J Med Genet A 2017 Nov 26;173(11):2923-2946. Epub 2017 Sep 26.

Department of Genetics, University Hospital of Amiens, CHU Amiens Sud, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.38420DOI Listing
November 2017

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Am J Med Genet A 2016 Mar 17;170(3):785-9. Epub 2015 Nov 17.

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

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http://dx.doi.org/10.1002/ajmg.a.37473DOI Listing
March 2016

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

Crane-Heise syndrome: two further case reports.

Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.004DOI Listing
August 2011

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Eur J Hum Genet 2008 Dec 23;16(12):1459-66. Epub 2008 Jul 23.

UMR745 INSERM, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.134DOI Listing
December 2008

Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.

Am J Med Genet A 2004 Jan;124A(1):60-6

Service of Genetics, Hôpital Jeanne de Flandre, CHRU 59037 de Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.20411DOI Listing
January 2004