Serge Romana

Serge Romana

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Serge Romana

Serge Romana

Publications by authors named "Serge Romana"

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Comment on: Monogenic mimics of Behçet's disease in the young.

Rheumatology (Oxford) 2019 Nov 14. Epub 2019 Nov 14.

Department of Paediatric Immunology-Haematology and Rheumatology, Necker University Hospital - AP-HP.

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http://dx.doi.org/10.1093/rheumatology/kez543DOI Listing
November 2019

Chromosomal translocations and semen quality: A study on 144 male translocation carriers.

Reprod Biomed Online 2019 Jan 13;38(1):46-55. Epub 2018 Nov 13.

AP-HP, Reproductive Biology Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, Clamart 92140, France.

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https://linkinghub.elsevier.com/retrieve/pii/S14726483183055
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http://dx.doi.org/10.1016/j.rbmo.2018.10.003DOI Listing
January 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

Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders.

Genes Chromosomes Cancer 2017 03 1;56(3):221-230. Epub 2016 Nov 1.

Service de Pathologie, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes Sorbonne Cité, Paris, France.

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http://dx.doi.org/10.1002/gcc.22428DOI Listing
March 2017

Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11.

Chromosoma 2016 09 21;125(4):789-805. Epub 2015 Dec 21.

Institut Jacques Monod, UMR7592 CNRS-Université Paris Diderot, Sorbonne Paris Cité, F-75205, Paris, France.

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http://dx.doi.org/10.1007/s00412-015-0567-0DOI Listing
September 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

First fetal case of the 8q24.3 contiguous genes syndrome.

Am J Med Genet A 2016 Jan 5;170A(1):239-42. Epub 2015 Oct 5.

Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37411DOI Listing
January 2016

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

Am J Med Genet A 2014 May 24;164A(5):1310-7. Epub 2014 Mar 24.

Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France; INSERM U781, Université Sorbonne Paris Cité, Institut IMAGINE, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36452DOI Listing
May 2014

[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions].

Bull Acad Natl Med 2011 Apr-May;195(4-5):1005-13; discussion 1013-4

Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, Clamart. Univ. Paris-Sud, Clamart, INSERM, U782, Clamart, F-92140.

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April 2012

NUP98-MLL fusion in human acute myeloblastic leukemia.

Blood 2010 Sep 17;116(13):2332-5. Epub 2010 Jun 17.

INSERM U985, Institut Gustave Roussy, 39 rue Camille Desmoulins, Villejuif, France.

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http://dx.doi.org/10.1182/blood-2010-04-277806DOI Listing
September 2010

Microchimerism in renal allografts: clinicopathological associations according to the type of chimeric cells.

Histopathology 2010 Jan;56(2):188-97

Service d'Anatomie et de Cytologie Pathologiques, Université Paris-Sud 11, APHP Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1111/j.1365-2559.2009.03466.xDOI Listing
January 2010

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Eur J Med Genet 2008 Mar-Apr;51(2):156-64. Epub 2007 Dec 24.

Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle - Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron 69677 Cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.003DOI Listing
June 2008

MLL insertion with MLL-MLLT3 gene fusion in acute leukemia: case report and review of the literature.

Cancer Genet Cytogenet 2008 May;183(1):53-9

Service de cytogénétique, Assistance PubliqueeHôpitaux de Paris, Centre Hospitalier Universitaire Necker-Enfants Malades, 149 rue de Sèvres, 75743, paris Cedex 15, France.

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http://dx.doi.org/10.1016/j.cancergencyto.2008.01.016DOI Listing
May 2008

Pure proximal deletion of chromosome 21 and kyphosis.

Eur J Med Genet 2007 Nov-Dec;50(6):469-74. Epub 2007 Aug 15.

Service de cytogénétique, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.001DOI Listing
March 2008

NUP98-NSD1 fusion by insertion in acute myeloblastic leukemia.

Cancer Genet Cytogenet 2008 Jan;180(1):43-6

National Institute of Health and Medical Research (INSERM), EMI 0210, Necker Pediatric Hospital, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.cancergencyto.2007.09.007DOI Listing
January 2008

De novo trisomy 20p of paternal origin.

Am J Med Genet A 2007 May;143A(10):1100-3

Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunisie.

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http://dx.doi.org/10.1002/ajmg.a.31704DOI Listing
May 2007

Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles.

Fertil Steril 2007 Jan 30;87(1):60-73. Epub 2006 Oct 30.

Service de Gynécologie-Obstétrique et de Médecine de la Reproduction, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1016/j.fertnstert.2006.05.059DOI Listing
January 2007

Molecular karyotyping in human constitutional cytogenetics.

Eur J Med Genet 2005 Jul-Sep;48(3):214-31

Service de cytogénétique, laboratoire de cytogénétique, hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.013DOI Listing
November 2005

[Prenatal and preimplantation genetic diagnosis: decision tree, new practices?].

Med Sci (Paris) 2005 Nov;21(11):987-92

Université Paris Descartes, Service de Génétique et Unité Inserm U.393, Hôpital Necker Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1051/medsci/20052111987DOI Listing
November 2005

Cryptic translocations involving chromosome 20 in polycythemia vera.

Ann Genet 2004 Oct-Dec;47(4):365-71

Inserm EMI 0210, Tour Pasteur, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.anngen.2004.08.003DOI Listing
May 2005

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.

J Clin Invest 2003 Feb;111(3):381-7

Unité Développement Normal et Pathologique du Système Immunitaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U429, Hôpital Necker Enfants-Malades, Paris, France.

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http://www.jci.org/articles/view/16774
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http://dx.doi.org/10.1172/JCI16774DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151863PMC
February 2003

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

Hum Mol Genet 2002 Dec;11(26):3273-81

Unité de Recherches sur les Handicaps Génétiques de l'Enfant (INSERM U393), Service Informatique, Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, Généthon, Evry, France.

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http://dx.doi.org/10.1093/hmg/11.26.3273DOI Listing
December 2002

[Preimplantation genetic diagnosis: update of the Parisian group].

Bull Acad Natl Med 2002 ;186(5):865-75; discussion 875-8

Service d'Histologie-Embryologie-Cytogénétique à orientation Biologique et Génétique de la Reproduction, Hôpital Antoine Béclère (AP-HP), 157, rue de la Porte de Trivaux-92141 Clamart.

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November 2002

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.

Mol Hum Reprod 2002 Jul;8(7):688-94

Département de Génétique, U393, IRNEM, Hôpital Necker Enfants Malades, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1093/molehr/8.7.688DOI Listing
July 2002