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Affichage: 4 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
    AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
    Ramond, Francis Rio, Marlène Héron, Bénédicte Imbard, Apolline Marie, Sandrine[UCL] Billiemaz, Kareen Denommé-Pichon, Anne-Sophie Kuentz, Paul Ceballos, Irène Piraud, Monique Vincent, Marie-Françoise[UCL] Touraine, Renaud (2020) Journal of inherited metabolic disease — Vol. 43, no.6, p. 1254-1264 (2020)
    • 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)
    • Article de périodique
    BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
    Engel, Camille Valence, Stéphanie Delplancq, Geoffroy Maroofian, Reza Accogli, Andrea Agolini, Emanuele Alkuraya, Fowzan S Baglioni, Valentina Bagnasco, Irene Becmeur-Lefebvre, Mathilde Bertini, Enrico Borggraefe, Ingo Brischoux-Boucher, Elise Bruel, Ange-Line Brusco, Alfredo Bubshait, Dalal K Cabrol, Christelle Cilio, Maria-Roberta[UCL] Cornet, Marie-Coralie Coubes, Christine Danhaive, Olivier[UCL] Delague, Valérie Denommé-Pichon, Anne-Sophie Di Giacomo, Marilena Carmela Doco-Fenzy, Martine Engels, Hartmut Cremer, Kirsten Gérard, Marion Gleeson, Joseph G Heron, Delphine Goffeney, Joanna Guimier, Anne Harms, Frederike L Houlden, Henry Iacomino, Michele Kaiyrzhanov, Rauan Kamien, Benjamin Karimiani, Ehsan Ghayoor Kraus, Dror Kuentz, Paul Kutsche, Kerstin Lederer, Damien Massingham, Lauren Mignot, Cyril Morris-Rosendahl, Déborah Nagarajan, Lakshmi Odent, Sylvie Ormières, Clothilde Partlow, Jennifer Neil Pasquier, Laurent Penney, Lynette Philippe, Christophe Piccolo, Gianluca Poulton, Cathryn Putoux, Audrey Rio, Marlène Rougeot, Christelle Salpietro, Vincenzo Scheffer, Ingrid Schneider, Amy Srivastava, Siddharth Straussberg, Rachel Striano, Pasquale Valente, Enza Maria Venot, Perrine Villard, Laurent Vitobello, Antonio Wagner, Johanna Wagner, Matias Zaki, Maha S Zara, Federizo Lesca, Gaetan Yassaee, Vahid Reza Miryounesi, Mohammad Hashemi-Gorji, Farzad Beiraghi, Mehran Ashrafzadeh, Farah Galehdari, Hamid Walsh, Christopher Novelli, Antonio Tacke, Moritz Sadykova, Dinara Maidyrov, Yerdan Koneev, Kairgali Shashkin, Chingiz Capra, Valeria Zamani, Mina Van Maldergem, Lionel Burglen, Lydie Piard, Juliette (2023) European journal of human genetics — Vol. 31, no.9, p. 1023-1031 (2023)