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Displaying 7 results.
    • Journal article
    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)
    • Journal article
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
    Bauwens, Miriam Garanto, Alejandro Sangermano, Riccardo Naessens, Sarah Weisschuh, Nicole De Zaeytijd, Julie Khan, Mubeen Sadler, Françoise Balikova, Irina Van Cauwenbergh, Caroline Rosseel, Toon Bauwens, Jim De Leeneer, Kim De Jaegere, Sarah Van Laethem, Thalia De Vries, Meindert Carss, Keren Arno, Gavin Fakin, Ana Webster, Andrew R de Ravel de l'Argentière, Thomy J L Sznajer, Yves[UCL] Vuylsteke, Marnik Kohl, Susanne Wissinger, Bernd Cherry, Timothy Collin, Rob W J Cremers, Frans P M Leroy, Bart P De Baere, Elfride (2019) Genetics in medicine — Vol. 21, no.8, p. 1761-1771 (2019)
    • Speech
    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)
    • Journal article
    A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
    De Bruyne, Marieke Hoste, Levi Bogaert, Delfien J. Van den Bossche, Lien Tavernier, Simon J. Parthoens, Eef Migaud, Mélanie Konopnicki, Deborah Yombi, Jean Cyr[UCL] Lambrecht, Bart N. van Daele, Sabine Alves de Medeiros, Ana Karina Brochez, Lieve Beyaert, Rudi De Baere, Elfride Puel, Anne Casanova, Jean-Laurent Goffard, Jean-Christophe Savvides, Savvas N. Haerynck, Filomeen Staal, Jens Dullaers, Melissa (2018) Frontiers in Immunology — Vol. 9, p. 2366 [1-13] (2018)
    • Journal article
    Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
    Szafranski, Przemyslaw Gambin, Tomasz Dharmadhikari, Avinash V Akdemir, Kadir Caner Jhangiani, Shalini N Schuette, Jennifer Godiwala, Nihal Yatsenko, Svetlana A Sebastian, Jessica Madan-Khetarpal, Suneeta Surti, Urvashi Abellar, Rosanna G Bateman, David A Wilson, Ashley L Markham, Melinda H Slamon, Jill Santos-Simarro, Fernando Palomares, María Nevado, Julián Lapunzina, Pablo Chung, Brian Hon-Yin Wong, Wai-Lap Chu, Yoyo Wing Yiu Mok, Gary Tsz Kin Kerem, Eitan Reiter, Joel Ambalavanan, Namasivayam Anderson, Scott A Kelly, David R Shieh, Joseph Rosenthal, Taryn C Scheible, Kristin Steiner, Laurie Iqbal, M Anwar McKinnon, Margaret L Hamilton, Sara Jane Schlade-Bartusiak, Kamilla English, Dawn Hendson, Glenda Roeder, Elizabeth R DeNapoli, Thomas S Littlejohn, Rebecca Okashah Wolff, Daynna J Wagner, Carol L Yeung, Alison Francis, David Fiorino, Elizabeth K Edelman, Morris Fox, Joyce Hayes, Denise A Janssens, Sandra De Baere, Elfride Menten, Björn Loccufier, Anne Vanwalleghem, Lieve Moerman, Philippe Sznajer, Yves[UCL] Lay, Amy S Kussmann, Jennifer L Chawla, Jasneek Payton, Diane J Phillips, Gael E Brosens, Erwin Tibboel, Dick de Klein, Annelies Maystadt, Isabelle Fisher, Richard Sebire, Neil Male, Alison Chopra, Maya Pinner, Jason Malcolm, Girvan Peters, Gregory Arbuckle, Susan Lees, Melissa Mead, Zoe Quarrell, Oliver Sayers, Richard Owens, Martina Shaw-Smith, Charles Lioy, Janet McKay, Eileen de Leeuw, Nicole Feenstra, Ilse Spruijt, Liesbeth Elmslie, Frances Thiruchelvam, Timothy Bacino, Carlos A Langston, Claire Lupski, James R Sen, Partha Popek, Edwina Stankiewicz, Paweł (2016) Human Genetics — Vol. 135, no.5, p. 569-586 (2016)
    • Journal article
    Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series
    Tack, Lloyd J W Brachet, Cécile Beauloye, Véronique[UCL] Heinrichs, Claudine Boros, Emese De Waele, Kathleen van der Straaten, Saskia Van Aken, Sarah Craen, Margaretha Lemay, Annelies Rochtus, Anne Casteels, Kristina Beckers, Dominique[UCL] Mouraux, Thierry[UCL] Logghe, Karl Van Loocke, Marlies Massa, Guy Van de Vijver, Koen Syryn, Hannes van de Velde, Julie De Baere, Elfride Verdin, Hannah Cools, Martine (2023) Human reproduction open — Vol. 2023, no. 4, p. hoad047 [1-11] (2023)
    • Journal article
    Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases.
    Papadimitriou, Sofia Gravel, Barbara Nachtegael, Charlotte De Baere, Elfride Loeys, Bart Vikkula, Miikka[UCL] Smits, Guillaume Lenaerts, Tom (2023) HGG advances — Vol. 4, no.1, p. 100165 [1-11] (2023)