Martine Doco-Fenzy

Martine Doco-Fenzy

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Martine Doco-Fenzy

Martine Doco-Fenzy

Publications by authors named "Martine Doco-Fenzy"

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42Publications

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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

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

Report on 3 patients with 12p duplication including GRIN2B.

Eur J Med Genet 2014 Apr 3;57(5):185-94. Epub 2014 Feb 3.

Department of Genetics, Robert Debre University Hospital, Reims, France; EA3801, URCA, Reims, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.12.009DOI Listing
April 2014

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

Mol Cell Endocrinol 2013 Dec 7;381(1-2):220-9. Epub 2013 Aug 7.

Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.mce.2013.07.034DOI Listing
December 2013

Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.

Birth Defects Res A Clin Mol Teratol 2013 Mar;97(3):123-32

Department of Anatomy, Faculté de Médecine de Reims, Université de Reims Champagne-Ardenne, Reims, France.

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http://dx.doi.org/10.1002/bdra.23125DOI Listing
March 2013

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.

Eur J Med Genet 2012 Nov 4;55(11):625-9. Epub 2012 Aug 4.

Department of Child and Adolescent Psychiatry, University Hospital of Reims, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.009DOI Listing
November 2012

Cleft palate and bilateral congenital cataract: a familial observation: a new syndrome?

Br J Oral Maxillofac Surg 2012 Oct 6;50(7):e109-12. Epub 2011 Dec 6.

Department of Pediatric Surgery, American Memorial Hospital, CHU, Reims, France.

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http://dx.doi.org/10.1016/j.bjoms.2011.11.009DOI Listing
October 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

Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.

Pathol Res Pract 2008 13;204(6):401-6. Epub 2008 Feb 13.

Pol Bouin Laboratory, University of Reims, CHU-Reims, Reims, France.

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http://dx.doi.org/10.1016/j.prp.2007.12.007DOI Listing
August 2008

Compilation of published comparative genomic hybridization studies.

Cancer Genet Cytogenet 2002 May;135(1):63-90

Laboratoire d'Hématologie, Hôpital Robert Debré-CHU Reims, Reims, France.

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http://dx.doi.org/10.1016/s0165-4608(01)00624-0DOI Listing
May 2002