Sophie Julia

Sophie Julia

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Sophie Julia

Sophie Julia

Publications by authors named "Sophie Julia"

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Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 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

[Should the knowledge be imperative? The key challenge of high throughput genetics].

Med Sci (Paris) 2017 Nov 4;33(11):1001-1002. Epub 2017 Dec 4.

Service de génétique médicale, Unité de génétique clinique, CHU Hôtel Dieu, 1, place Alexis Ricordeau, 44093 Nantes, France.

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http://dx.doi.org/10.1051/medsci/20173311019DOI Listing
November 2017

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

J Bone Miner Res 2015 Aug 14;30(8):1369-76. Epub 2015 May 14.

Endocrine, Bone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France.

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http://dx.doi.org/10.1002/jbmr.2471DOI Listing
August 2015

Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.

Eur J Med Genet 2014 Oct 13;57(10):567-70. Epub 2014 Aug 13.

Laboratoire de Cytogénétique, Hôpital Purpan, CHU Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.07.004DOI Listing
October 2014

Distal 10q monosomy: new evidence for a neurobehavioral condition?

Eur J Med Genet 2014 Jan 23;57(1):47-53. Epub 2013 Nov 23.

Service de Génétique Médicale, Hôpital Purpan, Place du Dr Baylac, 31300 Toulouse, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130025
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http://dx.doi.org/10.1016/j.ejmg.2013.11.002DOI Listing
January 2014

Genomic incidental findings: reducing the burden to be fair.

Am J Bioeth 2013 ;13(2):52-4

Inserm UMR 1027, Université Toulouse III - Paul Sabatier, Faculté de Médecine, Département d’épidémiologie et de santé publique, 37 allées Jules Guesde Toulouse, F31062, France.

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http://dx.doi.org/10.1080/15265161.2012.754066DOI Listing
May 2013

Disclosing results to genomic research participants: differences that matter.

Am J Bioeth 2012 ;12(10):20-2

INSERM UMR, Université Toulouse III, France.

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http://dx.doi.org/10.1080/15265161.2012.699149DOI Listing
November 2012

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Clin Biochem 2009 Jun 6;42(9):892-8. Epub 2009 Feb 6.

Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.clinbiochem.2009.01.016DOI Listing
June 2009

Linkage analysis of high myopia susceptibility locus in 26 families.

Mol Vis 2008 30;14:2566-74. Epub 2008 Dec 30.

Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613077PMC
April 2009

Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene.

Cardiol Young 2007 Feb 22;17(1):95-7. Epub 2006 Dec 22.

Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France.

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http://dx.doi.org/10.1017/S1047951106001144DOI Listing
February 2007