Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jean‐François Deleuze"'
Autor:
Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert‐Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sebastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert‐Dussardier, Annick Toutain, Anne Boland, Jean‐François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kevin Uguen
Publikováno v:
Clinical Genetics
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
International audience
Autor:
Corinne Stoetzel, Richard Redon, Erica E. Davis, Véronique Geoffroy, Jean-Louis Mandel, Georgios Kellaris, Samuel Nicaise, Joakim Klar, Clarisse Delvallée, Anne Sophie Leuvrey, Florence Demurger, Manuela Antin, Emmanuelle Génin, Boris Keren, Nicholas Katsanis, Niklas Dahl, Sophie Scheidecker, Elsa Nourisson, Jean Muller, Hélène Dollfus, Jean-François Deleuze, Christel Depienne, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Carmen C. Leitch, Koenraad Devriendt, Sylvie Odent
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
International audience; Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases.
Autor:
Julien Thevenon, Ange-Line Bruel, Yannis Duffourd, Laurence Faivre, Jean-Baptiste Rivière, Paul Kuentz, Frédéric Huet, Jean-François Deleuze, Candace Bensignor, Christel Thauvin-Robinet, Florence Roucher, Alice Masurel-Paulet, Joséphine Borgnon, Daphné Lehalle
Publikováno v:
Clinical Genetics. 91:333-338
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 de