Výsledky vyhledávání - B Delobel
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech Autor Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B Delobel, H. Copin, Aline Receveur, M Mathieu, G. Thiriez, C. Le Caignec, A. David, M. C. de Blois, Valérie Malan, Anne Philippe, Valérie Cormier‐Daire, Laurence Colleaux, E. Flori, Hélène Dollfus, V. Pelletier, Christel Thauvin‐Robinet, A. Masurel-Paulet, L. Faivre, Marc Tardieu, Nadia Bahi‐Buisson, Patrick Callier, Francine Mugneret, Patrick Edery, Philippe Jonveaux, Damien Sanlaville
Vydáno 2010Artigo -
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features Autor A-M Molin, Joris Andrieux, David A. Koolen, Valérie Malan, Massimo Carella, Laurence Colleaux, Valérie Cormier‐Daire, A. David, Nicole de Leeuw, B Delobel, Bénédicte Duban‐Bedu, Rita Fischetto, Frances Flinter, Søren K. Kjærgaard, Fernando Kok, Ana Cristina Victorino Krepischi, C. Le Caignec, Caroline Mackie Ogilvie, Sofia Maia, M. Mathieu‐Dramard, A Munnich, Orazio Palumbo, Francesco Papadia, Rolph Pfundt, William Reardon, Aline Receveur, Marlène Rio, L Ronsbro Darling, Carla Rosenberg, JAMILE DE OLIVEIRA SÁ, Louis Vallée, C. Vincent‐Delorme, Leopoldo Zelante, M.-L. Bondeson, Göran Annerén
Vydáno 2011Artigo -
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Autor Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Chromosome
Phenotype
Bioinformatics
Copy-number variation
Genetic heterogeneity
Genome
Hypotonia
Medicine
Microdeletion syndrome
Speech delay
Andrology
Aneuploidy
Breakpoint
Chromosomal translocation
Comparative genomic hybridization
Disease gene identification
Embryo
Endocrinology
Environmental health
Exome sequencing
Genome-wide association study
Genotype
Heritability
Hypospadias
In vitro fertilisation
Intracytoplasmic sperm injection
Karyotype