Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 121



11
TITLE: Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
AUTHORS: Cervan Martin, Miriam; Tuettelmann, Frank; Lopes, Alexandra M. ; Bossini Castillo, Lara; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Carmen Gonzalvo, M.; Clavero, Ana; Maldonado, Vicente; Vicente, F. Javier; Gonzalez Munoz, Sara; Guzman Jimenez, Andrea; Burgos, Miguel; Jimenez, Rafael; Pacheco, Alberto; Gonzalez, Cristina; Gomez, Susana; Amoros, David; Aguilar, Jesus; Quintana, Fernando; Calhaz Jorge, Carlos; Aguiar, Ana; Nunes, Joaquim; Sousa, Sandra; Pereira, Isabel; Pinto, Maria Graca; Correia, Sonia; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Martin, Javier; Pereira Caetano, Iris; Marques, Patricia I.; Carvalho, Filipa ; Barros, Alberto ; Gromoll, Joerg; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Kliesch, Sabine; Palomino Morales, Rogelio J.; Carmona, F. David; ...More
PUBLISHED: 2022, SOURCE: COMMUNICATIONS BIOLOGY, VOLUME: 5, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2 Unpaywall
IN MY: ORCID | CIÊNCIAVITAE
12
TITLE: Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene
AUTHORS: Carvalho, B; Marques, CJ ; Santos Silva, R ; Fontoura, M ; Carvalho, D ; Carvalho, F ;
PUBLISHED: 2021, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 129, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID | CIÊNCIAVITAE
13
TITLE: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia  Full Text
AUTHORS: Albert Salas-Huetos; Frank Tüttelmann; Margot J Wyrwoll; Sabine Kliesch; Alexandra M Lopes ; João Goncalves; Steven E Boyden; Marius Wöste; James M Hotaling; Liina Nagirnaja; Donald F Conrad; Douglas T Carrell; Kenneth I Aston; Filipa Carvalho ; Alberto Barros ;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 31
IN MY: ORCID | CIÊNCIAVITAE
14
TITLE: Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort  Full Text
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MD; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A ; Bassas, L; Seixas, S; Goncalves, J; Larriba, S; Lopes, AM ; Carmona, FD; Palomino Morales, RJ; ...More
PUBLISHED: 2021, SOURCE: ANDROLOGY, VOLUME: 9, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID | CIÊNCIAVITAE
15
TITLE: ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017
AUTHORS: van Montfoort, A; Carvalho, F ; Coonen, E; Kokkali, G; Moutou, C; Rubio, C; Goossens, V; De Rycke, M;
PUBLISHED: 2021, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2021, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 47
IN MY: ORCID | CIÊNCIAVITAE
16
TITLE: Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment
AUTHORS: Cervan Martin, M; Bossini Castillo, L; Rivera Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Guzman Jimenez, A; Costa, C; Llinares Burguet, I; Khantham, C; Burgos, M; Barrionuevo, FJ; Jimenez, R; Sanchez Curbelo, J; Lopez Rodrigo, O; Peraza, MF; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A ; Bassas, L; Seixas, S; Goncalves, J; Larriba, S; Lopes, AM ; Palomino Morales, RJ; Carmona, FD; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Variant PNLDC1, Defective piRNA Processing, and Azoospermia
AUTHORS: Nagirnaja, L; Morup, N; Nielsen, JE; Stakaitis, R; Golubickaite, I; Oud, MS; Winge, SB; Carvalho, F ; Aston, KI; Khani, F; van der Heijden, GW; Marques, CJ ; Skakkebaek, NE; Rajpert De Meyts, E; Schlegel, PN; Jorgensen, N; Veltman, JA; Lopes, AM ; Conrad, DF; Almstrup, K;
PUBLISHED: 2021, SOURCE: NEW ENGLAND JOURNAL OF MEDICINE, VOLUME: 385, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 68
IN MY: ORCID | CIÊNCIAVITAE
18
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
19
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
20
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
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