Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Autor: Frank Tüttelmann, Csilla Krausz, Sabine Kliesch, Alexandra M. Lopes, Willy M. Baarends, Daniel Moreno-Mendoza, Donald F. Conrad, Douglas T. Carrell, Corinna Friedrich, Antoni Riera-Escamilla, Margot J. Wyrwoll, Kenneth I. Aston, Sara Pietroforte, Francesca Cioppi, Kaylee Holleman, Eduard Ruiz-Castañé, Ferran Algaba, Elisabet Ars, Adrian Pilatz, Marc Pybus, Elena Casamonti, Liina Nagirnaja

Publikováno v: Genetics in Medicine, 22(12), 1956-1966. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

Purpose Azoospermia affects 1% of men and it can be the consequence of spermatogenic maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 genes have been reported as recurrent potential causes of MA. Methods

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https://pure.eur.nl/en/publications/36f5cb51-cb4c-42da-9c0f-7901164c2709