Azzedine Aboura

Azzedine Aboura

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Azzedine Aboura

Azzedine Aboura

Publications by authors named "Azzedine Aboura"

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Am J Med Genet A 2014 Oct 26;164A(10):2504-9. Epub 2014 Jun 26.

Department of Developmental Biology, AP-HP, Robert Debré University Hospital, Paris and Diderot University, Paris, France; Clinical Genetics Unit, Rennes Sud University Hospital, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.a.36658DOI Listing
October 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

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2663-5. Epub 2013 Aug 5.

AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36081DOI Listing
October 2013

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Eur J Med Genet 2012 Aug-Sep;55(8-9):498-501. Epub 2012 May 5.

Department of Developmental Biology, AP-HP, Robert Debré Hospital, 48, Boulevard Sérurier, 75019 Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.006DOI Listing
November 2012

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

Am J Med Genet A 2012 Sep 20;158A(9):2277-82. Epub 2012 Jul 20.

Department of Genetics, APHP Robert Debré University Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35494DOI Listing
September 2012

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

J Clin Endocrinol Metab 2012 Jul 16;97(7):E1241-8. Epub 2012 May 16.

Univ Paris Diderot, Sorbonne Paris Cité, F-75019, Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3488DOI Listing
July 2012

Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.

Am J Med Genet A 2012 Apr 14;158A(4):894-900. Epub 2012 Mar 14.

Université Paris-Sud, Service d'Histologie Embryologie et Cytogénétique, APHP, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1002/ajmg.a.35258DOI Listing
April 2012

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

Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.

Am J Med Genet A 2009 Dec;149A(12):2892-7

Department of Developmental Biology, AP-HP Robert Debré University Hospital, Paris Diderot University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33135DOI Listing
December 2009

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

J Clin Endocrinol Metab 2009 Nov 16;94(11):4540-6. Epub 2009 Oct 16.

Department of Endocrinology, Saint-Antoine Hospital, Centre de Référence des Maladies, Endocriniennes Rares de la Croissance, Assistance Publique-Hôpitaux de Paris, ER9 University Pierre et Marie Curie, 75005 Paris, France.

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http://dx.doi.org/10.1210/jc.2009-0186DOI Listing
November 2009

First cryptic balanced reciprocal translocation mosaicism and familial transmission.

Am J Med Genet A 2008 Nov;146A(22):2971-4

Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France.

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http://dx.doi.org/10.1002/ajmg.a.32547DOI Listing
November 2008

Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

Hum Reprod 2008 Jan 1;23(1):222-6. Epub 2007 Nov 1.

Service de Biologie et Génétique de la Reproduction, Inserm U782, Université Paris 11, Hôpital A Béclère, Clamart, France.

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http://dx.doi.org/10.1093/humrep/dem358DOI Listing
January 2008

Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

Fetal Diagn Ther 2006 ;21(5):428-32

Service d'Histologie Embryologie Cytogénétique, Hôpital Antoine Béclère (APHP), Clamart, France.

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http://dx.doi.org/10.1159/000093885DOI Listing
September 2006

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Eur J Hum Genet 2006 Aug 17;14(8):971-4. Epub 2006 May 17.

Department of Child Neurology, AP-HP Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201635DOI Listing
August 2006

Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection?

J Androl 2005 Mar-Apr;26(2):235-41

Department of Génétique et reproduction, Hôpital Antoine Béclère 157, rue de la Porte de Trivaux 92141 Clamart, France.

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June 2005

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

Eur J Hum Genet 2005 Mar;13(3):278-82

Service de Biochimie et Hormonologie, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201342DOI Listing
March 2005

Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12.

Prenat Diagn 2004 Sep;24(9):708-12

Service d'Anatomie Pathologique, AP-HP, Hôpital Antoine Béclère, Clamart, France.

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http://dx.doi.org/10.1002/pd.970DOI Listing
September 2004

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.

Prenat Diagn 2003 Jun;23(6):461-9

Service de Génétique et Reproduction, AP-HP, Hôpital Antoine Béclère, Clamart, France.

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http://doi.wiley.com/10.1002/pd.620
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http://dx.doi.org/10.1002/pd.620DOI Listing
June 2003

Isodicentric/pseudoisodicentric chromosome 21 amplification in four cases of acute myelocytic leukemia or myelodysplasia.

Cancer Genet Cytogenet 2002 Oct;138(1):80-4

Laboratoire de Cytogénétique Onco-Hématologique, Hôpital Hôtel-Dieu, Paris, France.

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http://dx.doi.org/10.1016/s0165-4608(02)00580-0DOI Listing
October 2002