Navigation auf uzh.ch

Suche

Institut für Medizinische Genetik News, Events & Publikationen

Textdatei mit allen Artikeln

Yusifov, Elkhan; Schaettin, Martina; Dumoulin, Alexandre; Bachmann-Gagescu, Ruxandra; Stoeckli, Esther T (2025).
The primary cilium gene CPLANE1 is required for peripheral nervous system development.
PMID: 39694173, DOI: 10.1016/j.ydbio.2024.12.008, S2CID: 274804813. Developmental Biology, 519:106-121. 2025, March 5

Zeckanovic, Aida; Scheidegger, Nastassja K; Prader, Seraina; Thanikkel, Leo; Elgizouli, Magdeldin; Bodmer, Nicole (2025).
Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels.
PMID: 39558856, DOI: 10.1002/pbc.31461, S2CID: 274139788. Pediatric Blood & Cancer, e31461. 2025, February

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; McConkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; Van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle (2025). ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. 
PMID: 40044822, DOI: 10.1038/s41431-025-01798-w, S2CID: 276810567.  European Journal of Human Genetics:1-10. 2025, March 5. Epub ahead of print.

Schuknecht, Angelika; Wachtl, Josephine; Baumer Wolz, Alessandra; Kniestedt, Christoph (2025).
19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree
PMID: 39870091, DOI: 10.1055/a-2498-0245,  S2CID: 275930056, Klinische Monatsblätter für Augenheilkunde:1-7. 2025, Jan. 27. Epub ahead of print.