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TITLE: Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
AUTHORS: Wyrwoll, MJ; Temel, SG; Nagirnaja, L; Oud, MS; Lopes, AM ; van der Heijden, GW; Heald, JS; Rotte, N; Wistuba, J; Woste, M; Ledig, S; Krenz, H; Smits, RM; Carvalho, F ; Goncalves, J; Fietz, D; Turkgenc, B; Ergoren, MC; Cetinkaya, M; Basar, M; Kahraman, S; McEleny, K; Xavier, MJ; Turner, H; Pilatz, A; Ropke, A; Dugas, M; Kliesch, S; Neuhaus, N; Aston, KI; Conrad, DF; Veltman, JA; Friedrich, C; Tuttelmann, F; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 81
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TITLE: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
AUTHORS: Csilla Krausz; Antoni Riera Escamilla; Daniel Moreno Mendoza; Kaylee Holleman; Francesca Cioppi; Ferran Algaba; Marc Pybus; Corinna Friedrich; Margot J Wyrwoll; Elena Casamonti; Sara Pietroforte; Liina Nagirnaja; Alexandra M Lopes ; Sabine Kliesch; Adrian Pilatz; Douglas T Carrell; Donald F Conrad; Elisabet Ars; Eduard Ruiz Castane; Kenneth I Aston; Willy M Baarends; Frank Tuettelmann; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: Scopus WOS
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TITLE: Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
AUTHORS: Laura Kasak; Margus Punab; Liina Nagirnaja; Marina Grigorova; Ave Minajeva; Alexandra M Lopes; Anna Maria Punab; Kenneth I Aston; Filipa Carvalho ; Eve Laasik; Lee B Smith; Donald F Conrad; Maris Laan;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 102
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TITLE: A Standardized Approach for Multispecies Purification of Mammalian Male Germ Cells by Mechanical Tissue Dissociation and Flow Cytometry
AUTHORS: Ana C Lima; Min Jung; Jannette Rusch; Abul Usmani; Alexandra M Lopes; Donald F Conrad;
PUBLISHED: 2017, SOURCE: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, VOLUME: 2017, ISSUE: 125
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: Multispecies Purification of Testicular Germ Cells
AUTHORS: Ana C Lima; Min Jung; Jannette Rusch; Abul Usmani; Alexandra M Lopes; Donald F Conrad;
PUBLISHED: 2016, SOURCE: BIOLOGY OF REPRODUCTION, VOLUME: 95, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 4
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TITLE: Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1  Full Text
AUTHORS: Lopes, AM ; Aston, KI; Thompson, E; Carvalho, F ; Goncalves, J ; Huang, N; Matthiesen, R ; Noordam, MJ; Quintela, I; Ramu, A; Seabra, C; Wilfert, AB; Dai, JC; Downie, JM; Fernandes, S; Guo, XJ; Sha, JH; Amorim, Antonio ; Barros, A ; Carracedo, A; Hu, ZB; Hurles, ME; Moskovtsev, S; Ober, C; Paduch, DA; Schiffman, JD; Schlegel, PN; Sousa, M ; Carrell, DT; Conrad, DF; ...More
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 113 Handle