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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
22
TITLE: Contribution of rare cryptic deletions to severe spermatogenic impairment - insights from a large cohort of azoospermic men (GEMINI)  Full Text
AUTHORS: Alexandra M Lopes ; Liina Nagirnaja; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Kristian Almstrup; Ewa Rajpert De Meyts; Susana Seixas; Brendan Houston; Alberto Barros; Moira O'Bryan; Kenneth I Aston; Donald F Conrad;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
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TITLE: Epimutations in human sperm from patients with impaired spermatogenesis  Full Text
AUTHORS: Joana Marques ; Filipa Carvalho ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2020, SOURCE: CLINICAL EPIGENETICS, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
24
TITLE: ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015
AUTHORS: Coonen, E; van Montfoort, A; Carvalho, F ; Kokkali, G; Moutou, C; Rubio, C; De Rycke, M; Goossens, V;
PUBLISHED: 2020, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2020, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 31
25
TITLE: ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
AUTHORS: Carvalho, F ; Moutou, C; Dimitriadou, E; Dreesen, J; Gimenez, C; Goossens, V; Kakourou, G; Vermeulen, N; Zuccarello, D; De Rycke, M;
PUBLISHED: 2020, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2020, ISSUE: 3
INDEXED IN: WOS CrossRef: 74
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TITLE: ESHRE PGT Consortium good practice recommendations for the organisation of PGT
AUTHORS: Carvalho, F ; Coonen, E; Goossens, V; Kokkali, G; Rubio, C; Meijer Hoogeveen, M; Moutou, C; Vermeulen, N; De Rycke, M;
PUBLISHED: 2020, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2020, ISSUE: 3
INDEXED IN: WOS CrossRef: 79
27
TITLE: Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
AUTHORS: Cerván Martín, M; Suazo Sánchez, MI; Rivera Egea, R; Garrido, N; Luján, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Maldonado, V; Burgos, M; Barrionuevo, FJ; Jiménez, R; Sánchez Curbelo, J; López Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A ; Bassas, L; Seixas, S; Gonçalves, J; Larriba, S; Lopes, AM; Palomino Morales, RJ; Carmona, FD; Calhaz Jorge, C; Aguiar, A; Nunes, J; Sousa, S; Graça Pinto, M; Correia, S; Pacheco, A; González, C; Gómez, S; Amorós, D; Aguilar, J; Quintana, F; ...More
PUBLISHED: 2020, SOURCE: FERTILITY AND STERILITY, VOLUME: 114, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 9
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TITLE: Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling
AUTHORS: Francisco Barros; Filipa Carvalho ; Alberto Barros; Sofia Dória ;
PUBLISHED: 2020, SOURCE: Porto Biomedical Journal, VOLUME: 5, ISSUE: 3
INDEXED IN: CrossRef: 22
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TITLE: Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center
AUTHORS: Diogo Ferreira; Berta Carvalho; Ana P. Neto; Joaquina Silva; Ana M. Póvoa ; Alberto Barros ; Filipa Carvalho ;
PUBLISHED: 2019, SOURCE: Porto Biomedical Journal, VOLUME: 4, ISSUE: 5
INDEXED IN: CrossRef: 2 Unpaywall
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TITLE: Semen quality is affected by HLA class I alleles together with sexually transmitted diseases  Full Text
AUTHORS: Marques, PI; Goncalves, JC; Monteiro, C; Cavadas, B; Nagirnaja, L; Barros, N; Barros, A ; Carvalho, F ; Lopes, AM ; Seixas, S;
PUBLISHED: 2019, SOURCE: ANDROLOGY, VOLUME: 7, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 6
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