Connective tissue disease

  • Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
    Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee
  • Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
    Elyssa Cannaerts, Marlies Kempers, Alessandra Maugeri, Carlo Marcelis, Thatjana Gardeitchik, Julie Richer, Dimitra Micha, Luc Beauchesne, Janneke Timmermans, Paul Vermeersch, Nathalie Meyten, Sébastien Chénier, Gerarda van de Beek, Nils Peeters, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Aline Verstraeten, Bart Loeys
  • SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
    Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño-Mosquera, Bert Louis Callewaert, Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, Andrea L Rideout, Sarah Dyack, Rajani D Aatre, Catherine Boileau, Julie De Backer, Guillaume Jondeau, Dianna M Milewicz
  • Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
    Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N’Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets