Severine Drunat

Severine Drunat

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Severine Drunat

Severine Drunat

Publications by authors named "Severine Drunat"

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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Eur J Med Genet 2019 Aug 14;62(8):103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103704DOI Listing
August 2019

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.

Haematologica 2018 06 7;103(6):e274-e276. Epub 2017 Dec 7.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, France

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http://dx.doi.org/10.3324/haematol.2017.178590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058797PMC
June 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

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Am J Med Genet A 2017 Jul 25;173(7):1936-1942. Epub 2017 Apr 25.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38217DOI Listing
July 2017

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974084PMC
August 2016

Angelman syndrome and isovaleric acidemia: What is the link?

Mol Genet Metab Rep 2015 Jun 30;3:36-8. Epub 2015 Mar 30.

Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580PMC
June 2015

Clinico-radiological and genetic features of a common neuro-ichthyotic syndrome.

Indian J Pediatr 2015 May 24;82(5):487-9. Epub 2014 Dec 24.

Division of Pediatric Neurology, Department of Pediatrics, BLK Super Speciality Hospital, Pusa Road, New Delhi, 110005, India,

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http://dx.doi.org/10.1007/s12098-014-1663-5DOI Listing
May 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

Microvillous atrophy: atypical presentations.

J Pediatr Gastroenterol Nutr 2014 Dec;59(6):779-85

*Université Paris-Diderot-Sorbonne Paris Cité, UMR 1149 †Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré ‡INSERM, UMR1149, Paris §Department of Electron Microscopy, Université François Rabelais, Tours ||Assistance Publique-Hôpitaux de Paris, Hôpital Necker Enfants-Malades ¶Université Paris Descartes-Sorbonne Paris Cité #Université Paris-Diderot, UMR 698, CHU X. Bichat, Paris, France.

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http://pdfs.journals.lww.com/jpgn/2014/12000/Microvillous_At
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPG.0000000000000526DOI Listing
December 2014

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

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Eur J Med Genet 2014 Jan 7;57(1):32-6. Epub 2013 Nov 7.

Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School, Paris, France; INSERM U676, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.10.005DOI Listing
January 2014

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

Eur J Med Genet 2014 Jan 12;57(1):5-14. Epub 2013 Nov 12.

Department of Medical Genetics, APHP -- Robert Debré University Hospital, and Paris VII Denis Diderot University, Paris, France; INSERM UMR676 "PROTECT", Robert Debré Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.008DOI Listing
January 2014

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Eur J Med Genet 2013 Apr 19;56(4):226-8. Epub 2013 Jan 19.

Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.005DOI Listing
April 2013

A novel RAB33B mutation in Smith-McCort dysplasia.

Hum Mutat 2013 Feb 8;34(2):283-6. Epub 2012 Nov 8.

Inserm, U676, Paris, France.

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http://dx.doi.org/10.1002/humu.22235DOI Listing
February 2013

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Eur J Hum Genet 2010 Apr 11;18(4):505-8. Epub 2009 Nov 11.

Unité INSERM U781 Institut de Recherche Necker-Enfants Malades, service de génétique médicale, Hôpital Necker-Enfants Malades (Assistance Publique-Hôpitaux de Paris), Université Paris-Descartes, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1038/ejhg.2009.198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987255PMC
April 2010

Zygosity and chorionicity in triplet pregnancies: new data.

Hum Reprod 2009 Jan 22;24(1):100-5. Epub 2008 Oct 22.

Department of Prenatal Diagnosis, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1093/humrep/den364DOI Listing
January 2009

Zygosity and chorionicity in the prognosis of triplet pregnancies: contribution of microsatellites.

Twin Res Hum Genet 2008 Dec;11(6):648-55

1 Department of Obstetrics and Gynaecology, Robert Debré Hospital, AP-HP, Paris Diderot University, France.

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http://dx.doi.org/10.1375/twin.11.6.648DOI Listing
December 2008

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections.

Pediatr Diabetes 2008 Jun;9(3 Pt 1):240-4

Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre - Jeddah, Jeddah, Saudi Arabia.

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http://doi.wiley.com/10.1111/j.1399-5448.2007.00365.x
Publisher Site
http://dx.doi.org/10.1111/j.1399-5448.2007.00365.xDOI Listing
June 2008

Homocysteine is the only plasma thiol associated with carotid artery remodeling.

Atherosclerosis 2002 Nov;165(1):167-74

Laboratoire de Biochimie Cardio-vasculaire, Hôpital Européen Georges Pompidou and Laboratoire de Biochimie Appliquée, UFR Pharmacie, 20 rue Leblanc, 75015 Paris, XI, France.

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http://dx.doi.org/10.1016/s0021-9150(02)00205-8DOI Listing
November 2002

Homocysteine decreases endothelin-1 expression by interfering with the AP-1 signaling pathway.

Free Radic Biol Med 2002 Sep;33(5):659-68

Laboratoire de Biochimie Appliquée and IFR ISIT, Faculté de Pharmacie, Université Paris XI, Chatenay-Malabry, France.

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http://dx.doi.org/10.1016/s0891-5849(02)00957-7DOI Listing
September 2002

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.

Kidney Int 2002 Mar;61(3):907-12

Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP)et INSERM EMI 00-05, Paris, France.

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http://dx.doi.org/10.1046/j.1523-1755.2002.00205.xDOI Listing
March 2002