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Affichage: 3 résultats.
    • Article de périodique
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
    Besnard, Thomas Sloboda, Natacha Goldenberg, Alice Küry, Sébastien Cogné, Benjamin Breheret, Flora Trochu, Eva Conrad, Solène Vincent, Marie Deb, Wallid Balguerie, Xavier Barbarot, Sébastien Baujat, Geneviève Ben-Omran, Tawfeg Bursztejn, Anne-Claire Carmignac, Virginie Datta, Alexandre N Delignières, Aline Faivre, Laurence Gardie, Betty Guéant, Jean-Louis Kuentz, Paul Lenglet, Marion Nassogne, Marie-Cécile[UCL] Ramaekers, Vincent Schnur, Rhonda E Si, Yue Torti, Erin Thevenon, Julien Vabres, Pierre Van Maldergem, Lionel Wand, Dorothea Wiedemann, Arnaud Cariou, Bertrand Redon, Richard Lamazière, Antonin Bézieau, Stéphane Feillet, Francois Isidor, Bertrand (2019) Genetics in medicine : official journal of the American College of Medical Genetics — Vol. 21, no.9, p. 2025-2035 (2019)
    • Article de périodique
    Loss-of-Function Mutations inUNC45ACause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
    Esteve, Clothilde Francescatto, Ludmila Tan, Perciliz L. Bourchany, Aurélie De Leusse, Cécile Marinier, Evelyne Blanchard, Arnaud Bourgeois, Patrice Brochier-Armanet, Céline Bruel, Ange-Line Delarue, Arnauld Duffourd, Yannis Ecochard-Dugelay, Emmanuelle Hery, Géraldine Huet, Frédéric Gauchez, Philippe Gonzales, Emmanuel Guettier-Bouttier, Catherine Komuta, Mina[UCL] Lacoste, Caroline Maudinas, Raphaelle Mazodier, Karin Rimet, Yves Rivière, Jean-Baptiste Roquelaure, Bertrand Sigaudy, Sabine Stéphenne, Xavier[UCL] Thauvin-Robinet, Christel Thevenon, Julien Sarles, Jacques Levy, Nicolas Badens, Catherine Goulet, Olivier Hugot, Jean-Pierre Katsanis, Nicholas Faivre, Laurence Fabre, Alexandre (2018) American Journal of Human Genetics — Vol. 102, no. 3, p. 364-374 (2018)
    • Article de périodique
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Lehalle, Daphné Mosca-Boidron, Anne-Laure Begtrup, Amber Boute-Benejean, Odile Charles, Perrine Cho, Megan T Clarkson, Amanda Devinsky, Orrin Duffourd, Yannis Duplomb-Jego, Laurence Gérard, Bénédicte Jacquette, Aurélia Kuentz, Paul Masurel-Paulet, Alice McDougall, Carey Moutton, Sébastien Olivié, Hilde Park, Soo-Mi Rauch, Anita Revencu, Nicole[UCL] Rivière, Jean-Baptiste Rubin, Karol Simonic, Ingrid Shears, Deborah J Smol, Thomas Taylor Tavares, Ana Lisa Terhal, Paulien Thevenon, Julien Van Gassen, Koen Vincent-Delorme, Catherine Willemsen, Marjolein H Wilson, Golder N Zackai, Elaine Zweier, Christiane Callier, Patrick Thauvin-Robinet, Christel Faivre, Laurence (2017) Journal of Medical Genetics — Vol. 54, no.7, p. 479-488 (2017)