Joris Andrieux

Joris Andrieux

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Joris Andrieux

Publications by authors named "Joris Andrieux"

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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

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 2017

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Am J Med Genet A 2017 Jun 11;173(6):1690-1693. Epub 2017 Apr 11.

Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.38206DOI Listing
June 2017

Clinical utility gene card for: 16p12.2 microdeletion.

Eur J Hum Genet 2017 02 16;25(2). Epub 2016 Nov 16.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://dx.doi.org/10.1038/ejhg.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255956PMC
February 2017

Partial deletion of in a child with focal epilepsy.

Epilepsia Open 2016 12 25;1(3-4):140-144. Epub 2016 Aug 25.

Unit of Clinical Neurophysiology Scientific Institute, IRCCS Eugenio Medea Bosisio Parini Lecco Italy.

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http://doi.wiley.com/10.1002/epi4.12012
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http://dx.doi.org/10.1002/epi4.12012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719828PMC
December 2016

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Eur J Med Genet 2016 Oct 12;59(10):502-6. Epub 2016 Sep 12.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.09.008DOI Listing
October 2016

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Am J Hum Genet 2016 09 25;99(3):540-554. Epub 2016 Aug 25.

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Autism Research and Treatment and Program in Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011063PMC
September 2016

Dermatologic features of Smith-Magenis syndrome.

Pediatr Dermatol 2015 May-Jun;32(3):337-41. Epub 2015 Feb 12.

Department of Dermatology, University Hospital of Angers, Angers, France.

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http://dx.doi.org/10.1111/pde.12517DOI Listing
April 2016

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Am J Med Genet A 2016 Feb 6;170A(2):498-503. Epub 2015 Nov 6.

Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.37450DOI Listing
February 2016

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Ann Endocrinol (Paris) 2015 Oct 27;76(5):629-34. Epub 2015 Oct 27.

EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2015.02.002DOI Listing
October 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Am J Med Genet A 2015 Feb 26;167A(2):428-33. Epub 2014 Nov 26.

Service de Génétique et Embryologie médicales, AP-HP, Hôpital Armand Trousseau, Université Paris VI, Paris, France; Département de génétique, AP-HP, Hôpital Robert Debré, Université Paris VII, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36857
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http://dx.doi.org/10.1002/ajmg.a.36857DOI Listing
February 2015

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

Case Rep Genet 2015 14;2015:943905. Epub 2015 Jan 14.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, France.

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http://dx.doi.org/10.1155/2015/943905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310452PMC
February 2015

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

Am J Med Genet A 2015 Jan 17;167A(1):185-9. Epub 2014 Nov 17.

Service de Génétique, Hôpital Universitaire de la Côte de Nacre, Caen, France; Service de Pédiatrie, Hôpital Universitaire de la Côte de Nacre, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.36428DOI Listing
January 2015

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Eur J Med Genet 2015 Jan 20;58(1):44-6. Epub 2014 Nov 20.

Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2014.11.004DOI Listing
January 2015

Pure interstitial dup(6)(q22.31q22.31) - a case report.

Ital J Pediatr 2015 Jan 31;41. Epub 2015 Jan 31.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.

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http://dx.doi.org/10.1186/s13052-015-0113-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966PMC
January 2015

Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Eur J Hum Genet 2014 Nov 14;22(11). Epub 2014 May 14.

1] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK [2] Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK.

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http://dx.doi.org/10.1038/ejhg.2014.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200442PMC
November 2014

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Clin Med Insights Pediatr 2014 17;8:45-9. Epub 2014 Sep 17.

Foundation for Research in Genetics and Endocrinology's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

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http://dx.doi.org/10.4137/CMPed.S18121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179602PMC
October 2014

Whole ARX gene duplication is compatible with normal intellectual development.

Am J Med Genet A 2014 Sep 7;164A(9):2324-7. Epub 2014 Jul 7.

APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36564
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http://dx.doi.org/10.1002/ajmg.a.36564DOI Listing
September 2014

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.

Mol Cytogenet 2013 1;6:24. Epub 2013 Jul 1.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380 015, India.

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http://dx.doi.org/10.1186/1755-8166-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750467PMC
May 2014

Clinical utility gene card for: 16p13.11 microdeletion syndrome.

Eur J Hum Genet 2014 May 9;22(5). Epub 2013 Oct 9.

1] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK [2] Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK.

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http://dx.doi.org/10.1038/ejhg.2013.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992581PMC
May 2014

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Am J Med Genet A 2014 Jan 21;164A(1):208-12. Epub 2013 Nov 21.

Université Lille Nord de France, CHRU Lille, France; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHRU Lille, France.

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http://doi.wiley.com/10.1002/ajmg.a.36216
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http://dx.doi.org/10.1002/ajmg.a.36216DOI Listing
January 2014

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Eur J Hum Genet 2013 Dec 20;21(12):1457-61. Epub 2013 Feb 20.

Laboratoire de Génétique, EA 4368, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

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http://www.nature.com/articles/ejhg201322
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http://dx.doi.org/10.1038/ejhg.2013.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831065PMC
December 2013

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

Am J Med Genet A 2013 Oct 5;161A(10):2564-9. Epub 2013 Aug 5.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36079DOI Listing
October 2013

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Am J Med Genet A 2013 Oct 8;161A(10):2582-7. Epub 2013 Aug 8.

Department of Genetics, Hôpital Côte de Nacre, Caen, France.

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http://dx.doi.org/10.1002/ajmg.a.36085DOI Listing
October 2013

A severe prenatal presentation of Cat Eye Syndrome.

Clin Dysmorphol 2013 Oct;22(4):175-7

aDepartment of Genetics , University Hospital , Research Unit 4666, University of Picardy Departments of bCytogenetics cPrenatal Diagnosis dOphthalmology eHistopathology and Cytology, University Hospital, Amiens and fInstitute of Medical Genetics, University Hospital, Lille, France.

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http://pdfs.journals.lww.com/clindysmorphol/2013/10000/A_sev
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000011DOI Listing
October 2013

Clinical comparison of overlapping deletions of 19p13.3.

Am J Med Genet A 2013 May;161A(5):1110-6

Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA.

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http://dx.doi.org/10.1002/ajmg.a.35923DOI Listing
May 2013

On the role of FAN1 in Fanconi anemia.

Blood 2012 Jul 18;120(1):86-9. Epub 2012 May 18.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1182/blood-2012-04-420604DOI Listing
July 2012

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J Clin Endocrinol Metab 2012 May 29;97(5):E863-7. Epub 2012 Feb 29.

Centre Hospitalier Universitaire (CHU) de Caen, Department of Genetics, Caen F-14033, France.

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http://dx.doi.org/10.1210/jc.2011-2804DOI Listing
May 2012

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

Eur J Med Genet 2011 Sep-Oct;54(5):e495-500. Epub 2011 Jun 21.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.002DOI Listing
December 2011

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

Eur J Med Genet 2011 Sep-Oct;54(5):e525-7. Epub 2011 Jul 14.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.011DOI Listing
December 2011

Characterization of sSMC by FISH and molecular techniques.

Eur J Med Genet 2011 May-Jun;54(3):247-55. Epub 2011 Mar 3.

Institute of Human Genetics, Foundation for Research In Genetics and Endocrinology, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110001
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http://dx.doi.org/10.1016/j.ejmg.2011.01.011DOI Listing
September 2011

Crane-Heise syndrome: two further case reports.

Eur J Med Genet 2011 Mar-Apr;54(2):169-72. Epub 2010 Nov 20.

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, 59037 Lille, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.11.004DOI Listing
August 2011

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

Quintuplets after a transfer of two embryos following in vitro fertilization: a proved superfecundation.

Fertil Steril 2011 May 9;95(6):2124.e13-6. Epub 2011 Feb 9.

Service de Gynécologie endocrinienne et Médecine de la Reproduction, CHRU Lille, France.

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http://dx.doi.org/10.1016/j.fertnstert.2011.01.029DOI Listing
May 2011

Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage.

Fertil Steril 2010 Apr 13;93(6):2075.e3-6. Epub 2010 Jan 13.

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.

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http://dx.doi.org/10.1016/j.fertnstert.2009.11.016DOI Listing
April 2010

Supernumerary marker chromosome in a child with microcephaly and mental retardation.

Indian Pediatr 2010 Mar;47(3):277-9

Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Road, Satellite, Ahmedabad, India.

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http://dx.doi.org/10.1007/s13312-010-0038-xDOI Listing
March 2010

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies.

Indian J Exp Biol 2009 Oct;47(10):779-91

Laboratory of Medical Genetics, Jeanne de Flandre Hospital CHRU de Lille, Lille Cedex, France.

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October 2009