Medical Genetics

Publications

Introducing allopurinol to the medical treatment of Marfan syndrome : advantages, limitations, and potential extension to other aortopathies

Source
Cardiovascular drugs and therapy - ISSN 0920-3206- (2026) p.
Author(s)
    Gustavo Egea, Rodrigo Barbosa de Souza, Gisela Teixido-Tura, Aleksandra Mas-Stachurska, Arturo Evangelista, Bart Loeys

Management of pregnancy in women with rare multisystemic vascular diseases : a qualitative survey analysis

Source
Orphanet journal of rare diseases - ISSN 1750-1172-21:1 (2026) p.
Author(s)
    Gloria Somalo-Barranco, Alexandra Benachi, Laurence M. Boon, Petra Borgards, Janine Dickinson, Freya Droege, Olivier Dupuis, Michael Frank, Guillaume Jondeau, Robert M. Kauling, Diana Marinello, Edit Nagy, Jolien W. Roos-Hesselink, Meike Rybczynski, Pernille Mathiesen Torring, Carine van der Vleuten, Aline Verstraeten, Liesbeth Wildero Van Wouwe, Dina Zucchi, Julie De Backer

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Source
The American journal of human genetics - ISSN 0002-9297-113:9 (2026) p. 1946-1971
Author(s)
    Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak A. Alghamdi, Naif A. M. Almontashiri, Brenda J. Barry, Matthias Begemann, Jacquelyn F. Britton, Sarah Burke, Benjamin Cogne, Ana S. A. Cohen, Carles Diego de Boguna, Evan E. Eichler, Elizabeth C. Engle, Jill A. Fahrner, Laurence Faivre, Melanie Fradin, Nico Fuhrmann, Christine W. Gao, Gunjan Garg, Dagmar Grecmalova, Mina Grippa, Jacqueline R. Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Meral Aktas Koptagel, Farah A. Ladha, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Andreina Minicucci, Emily Neuhaus, Mathilde Nizon, Lenka Noskova, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H. Robin, Carey Ronspies, Jasmin Roohi, Hans Tomas Bjornsson