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Affichage: 10 résultats.
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
    • Article de périodique
    Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain
    Nuytinck, Lieve Wettinck, Karen Freund, Margarida[UCL] Van Maldergem, Lionel Fabry, Guy De Paepe, Anne (1997) European Journal of Human Genetics — Vol. 5, no. 3, p. 161-167 (1997)
    • Article de périodique
    Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.
    Demaret, Tanguy[UCL] Varma, Sharat[UCL] Stéphenne, Xavier[UCL] Smets, Françoise[UCL] Scheers, Isabelle[UCL] Wanders, Ronald Van Maldergem, Lionel Reding, Raymond[UCL] Sokal, Etienne[UCL] (2018) Pediatric Transplantation — Vol. 22, no. 3, p. e13112 (2018)
    • Article de périodique
    POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
    Van Maldergem, Lionel Besse, Arnaud De Paepe, Boel Blakely, Emma L Appadurai, Vivek Humble, Margaret M Piard, Juliette Craig, Kate He, Langping Hella, Pierre Debray, François-Guillaume Martin, Jean-Jacques Gaussen, Marion Laloux, Patrice[UCL] Stevanin, Giovanni Van Coster, Rudy Taylor, Robert W Copeland, William C Mormont, Eric[UCL] Bonnen, Penelope E (2017) Annals of Clinical and Translational Neurology — Vol. 4, no. 1, p. 4-14 (2017)
    • Article de périodique
    Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
    Kelley, Brian P. Malfait, Fransiska Bonafe, Luisa Baldridge, Dustin Homan, Erica Symoens, Sofie Willaert, Andy Elcioglu, Nursel Van Maldergem, Lionel Verellen-Dumoulin, Christine[UCL] Gillerot, Yves[UCL] Napierala, Dobrawa Krakow, Deborah Beighton, Peter Superti-Furga, Andrea De Paepe, Anne Lee, Brendan (2011) Journal of Bone and Mineral Research — Vol. 26, no. 3, p. 666-672 (2011)
    • Communication
    Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
    De Baere, Elfride Beysen, Diane Oley, C De Sutter, P. Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Leroy, Bart P. Lorenz, B Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Cocquet, Julie Fellous, M Veitia, Reiner Messiaen, Ludwine (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE (Maryland)
    • 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
    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)
    • Article de périodique
    A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
    Coutelier, Marie[UCL] Coarelli, Giulia Monin, Marie-Lorraine Konop, Juliette Davoine, Claire-Sophie Tesson, Christelle Valter, Rémi Anheim, Mathieu Behin, Anthony Castelnovo, Giovanni Charles, Perrine David, Albert Ewenczyk, Claire Fradin, Mélanie Goizet, Cyril Hannequin, Didier Labauge, Pierre Riant, Florence Sarda, Pierre Sznajer, Yves[UCL] Tison, François Ullmann, Urielle Van Maldergem, Lionel Mochel, Fanny Brice, Alexis Stevanin, Giovanni Durr, Alexandra SPATAX network (2017) Brain : a journal of neurology — Vol. 140, no.6, p. 1579-1594 (2017)
    • Article de périodique
    Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.
    Sokal, Etienne[UCL] Smets, Françoise[UCL] Bourgois, Annick[UCL] Van Maldergem, Lionel Buts, Jean-Paul[UCL] Reding, Raymond[UCL] Bernard Otte, Jean[UCL] Evrard, Veerle[UCL] Latinne, Dominique[UCL] Vincent, Marie-Françoise[UCL] Moser, Anne Soriano, Humberto E (2003) Transplantation — Vol. 76, no. 4, p. 735-8 (2003)