Bruno Delobel

Bruno Delobel

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Bruno Delobel

Bruno Delobel

Publications by authors named "Bruno Delobel"

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A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Eur J Hum Genet 2018 10 13;26(10):1497-1501. Epub 2018 Jun 13.

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/10.1038/s41431-018-0165-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138634PMC
October 2018

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.

Obesity (Silver Spring) 2014 Dec 19;22(12):2621-4. Epub 2014 Sep 19.

European Genomic Institute for Diabetes, Lille, France. Correspondence: Philippe Froguel CNRS-UMR8199, Lille Pasteur Institute, Lille, France; Lille 2 University, Lille, France; Department of Pediatrics, Saint Antoine Pediatric Hospital, Saint Vincent de Paul Hospital, Catholic University of Lille, Lille, France.

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http://dx.doi.org/10.1002/oby.20886DOI Listing
December 2014

Pigmentary maculopathy in two siblings with wolfram syndrome.

Retin Cases Brief Rep 2010 ;4(2):150-3

From the Departments of *Ophthalmology and †Genetics, Hôpital Saint Vincent de Paul, Lille, France.

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http://dx.doi.org/10.1097/ICB.0b013e3181ad3944DOI Listing
November 2014

Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: case report and literature review.

Eur J Med Genet 2012 Dec 20;55(12):743-6. Epub 2012 Sep 20.

Laboratoire d'Histologie, Embryologie et Cytogénétique, INSERM U1078, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.004DOI Listing
December 2012

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

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

Formation of nanometric HT-LiCoO(2) by a precipitation and aging process in an alcoholic solution.

Inorg Chem 2010 Dec 29;49(23):10949-55. Epub 2010 Oct 29.

Laboratoire de Réactivité et Chimie des Solides, UMR CNRS 6007, Université de Picardie Jules Verne, 33 rue Saint Leu, 80039 Amiens Cedex, France.

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http://dx.doi.org/10.1021/ic101324eDOI Listing
December 2010

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

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

Eur J Med Genet 2008 Jul-Aug;51(4):373-81. Epub 2008 Mar 28.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, 2 Avenue Oscar Lambret, CHRU, Lille 59000, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.02.010DOI Listing
October 2008

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Eur J Med Genet 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.

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

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http://dx.doi.org/10.1016/j.ejmg.2007.12.002DOI Listing
June 2008

The lithium intercalation compound Li2CoSiO4 and its behaviour as a positive electrode for lithium batteries.

Chem Commun (Camb) 2007 Dec(46):4890-2

EaStChem, School of Chemistry, University of St. Andrews, North Haugh, St. Andrews, Fife, UK KY16 9ST.

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http://dx.doi.org/10.1039/b711552kDOI Listing
December 2007

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.

Eur J Hum Genet 2002 Feb;10(2):107-12

INSERM 491, Faculté de Médecine Timone, Marseille, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200775DOI Listing
February 2002