Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 124



21
TITLE: Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure  Full Text
AUTHORS: Jimmaline J Hardy; Margot J Wyrwoll; William Mcfadden; Agnieszka Malcher; Nadja Rotte; Nijole C Pollock; Sarah Munyoki; Maria V Veroli; Brendan J Houston; Miguel J Xavier; Laura Kasak; Margus Punab; Maris Laan; Sabine Kliesch; Peter Schlegel; Thomas Jaffe; Kathleen Hwang; Josip Vukina; Miguel A Brieño-Enríquez; Kyle Orwig; Judith Yanowitz; Michael Buszczak; Joris A Veltman; Manon Oud; Liina Nagirnaja; Marta Olszewska; Moira K O’Bryan; Donald F Conrad; Maciej Kurpisz; Frank Tüttelmann; Alexander N Yatsenko; Donald F Conrad; Liina Nagirnaja; Kenneth I Aston; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert-De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; ...More
PUBLISHED: 2021, SOURCE: Human Genetics, VOLUME: 140, ISSUE: 8
INDEXED IN: Scopus CrossRef: 26
IN MY: ORCID | CIÊNCIAVITAE
22
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
IN MY: ORCID | CIÊNCIAVITAE
23
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
IN MY: ORCID | CIÊNCIAVITAE
24
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
25
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
IN MY: ORCID | CIÊNCIAVITAE
26
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
IN MY: ORCID | CIÊNCIAVITAE
27
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
IN MY: ORCID | CIÊNCIAVITAE
28
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
IN MY: ORCID | CIÊNCIAVITAE
29
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
IN MY: ORCID | CIÊNCIAVITAE
30
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
IN MY: ORCID | CIÊNCIAVITAE
Page 3 of 13. Total results: 124.

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