Sylvie Jaillard

Sylvie Jaillard

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Sylvie Jaillard

Sylvie Jaillard

Publications by authors named "Sylvie Jaillard"

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32Publications

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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

Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization.

Hum Pathol 2019 Aug 19. Epub 2019 Aug 19.

Service de Cytogénétique et Biologie Cellulaire, CHU de Rennes, 35000 Rennes, France; Université de Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de Recherche en santé, environnement et travail) - UMR_S1085, 35000 Rennes, France. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2019.08.005DOI Listing
August 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Hum Mutat 2019 Jul 29;40(7):886-892. Epub 2019 Mar 29.

Reproductive Development, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.23744DOI Listing
July 2019

Autophagy is increased in cryptorchid testis resulting in abnormal spermatozoa.

Asian J Androl 2019 Apr 24. Epub 2019 Apr 24.

Univ Rennes, CHU Rennes, Laboratoire de Biologie de la Reproduction -CECOS, Inserm, EHESP, Irset (Institut de recherche en santι, environnement et travail) - UMR_S 1085, Rennes F-35000, France.

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http://dx.doi.org/10.4103/aja.aja_12_19DOI Listing
April 2019

Karyotype is not dead (yet)!

Eur J Med Genet 2016 Jan 10;59(1):11-5. Epub 2015 Dec 10.

Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.016DOI Listing
January 2016

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

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

High level of soluble HLA-G in amniotic fluid is correlated with congenital transmission of Toxoplasma gondii.

Clin Immunol 2011 Feb 24;138(2):129-34. Epub 2010 Dec 24.

Laboratoire de Parasitologie, Faculté de Médecine et Centre Hospitalier Universitaire de Rennes, Rennes, France.

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http://dx.doi.org/10.1016/j.clim.2010.12.004DOI Listing
February 2011

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Hum Genet 2006 Mar 2;119(1-2):1-8. Epub 2005 Dec 2.

Groupe Génétique Humaine, IFR140 GFAS, CNRS UMR 6061, Université de Rennes1, 2 avenue du Pr Léon Bernard, CS 34317, 35043 Rennes Cedex, France.

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http://dx.doi.org/10.1007/s00439-005-0097-6DOI Listing
March 2006