Chantal Missirian

Chantal Missirian

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Chantal Missirian

Chantal Missirian

Publications by authors named "Chantal Missirian"

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42Publications

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SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Clin Dysmorphol 2019 Oct;28(4):205-210

APHM, CHU Timone Enfants, Département de Génétique Médicale.

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http://dx.doi.org/10.1097/MCD.0000000000000293DOI Listing
October 2019

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Prenat Diagn 2019 Sep 5;39(10):871-882. Epub 2019 Jul 5.

Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.

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http://dx.doi.org/10.1002/pd.5498DOI Listing
September 2019

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Am J Med Genet A 2019 Sep 11. Epub 2019 Sep 11.

Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France.

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http://dx.doi.org/10.1002/ajmg.a.61359DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.

J Pediatr Gastroenterol Nutr 2019 May;68(5):e85

Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone Enfants, APHM, Marseille, France.

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http://dx.doi.org/10.1097/MPG.0000000000002015DOI Listing
May 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
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

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.

J Med Case Rep 2018 Mar 18;12(1):79. Epub 2018 Mar 18.

Department of Child Psychiatry, Aix-Marseille University, APHM, Sainte Marguerite Hospital, Marseille, France.

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http://dx.doi.org/10.1186/s13256-018-1620-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857311PMC
March 2018

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Am J Med Genet A 2017 Sep 28;173(9):2489-2493. Epub 2017 Jun 28.

Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.38331DOI Listing
September 2017

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Clin Dysmorphol 2017 Jan;26(1):47-49

Departments of aClinical Genetics bPediatric Neurology cRadiology dCytogenetics, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1097/MCD.0000000000000139DOI Listing
January 2017

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

Eur J Med Genet 2016 Oct 7;59(10):546-8. Epub 2016 Sep 7.

Unité de cytogénétique constitutionnelle, APHM, CHU Timone-Enfants, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.001DOI Listing
October 2016

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Eur J Med Genet 2013 May 27;56(5):274-7. Epub 2013 Feb 27.

Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, Hôpital Timone - Enfants, Assistance Publique - Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.02.005DOI Listing
May 2013

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Eur J Med Genet 2010 Nov-Dec;53(6):367-70. Epub 2010 Jul 24.

Department of Obstetrics and Gynaecology, Hospital Nord, Marseilles France, AP-HM, CNRS-IRD UMR 6236, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.008DOI Listing
June 2011

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Eur J Med Genet 2010 Sep-Oct;53(5):318-21. Epub 2010 Jul 30.

Laboratoire d'Anatomie Pathologique et Neuropathologie, Assistance Publique-Hôpitaux de Marseille, Hôpital la Timone, Marseille, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100007
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http://dx.doi.org/10.1016/j.ejmg.2010.07.005DOI Listing
January 2011

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Eur J Med Genet 2008 Jan-Feb;51(1):68-73. Epub 2007 Nov 22.

INSERM U679, Hôpital de la Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.002DOI Listing
June 2008

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Eur J Hum Genet 2002 Jan;10(1):86-9

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200761DOI Listing
January 2002