Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 118



1
TITLE: The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
AUTHORS: Rui Barata; Liliana Rocha; Isabel Tavares; Odete Pereira; Filipa Carvalho ; João Paulo Oliveira;
PUBLISHED: 2024, SOURCE: Nephron
INDEXED IN: CrossRef Unpaywall
IN MY: ORCID
2
TITLE: ESHRE PGT Consortium data collection XXI: PGT analyses in 2018(dagger)
AUTHORS: Spinella, F.; Bronet, F.; Carvalho, F. ; Coonen, E.; De Rycke, M.; Rubio, C.; Goossens, V; Van Montfoort, A.;
PUBLISHED: 2023, SOURCE: HUMAN REPRODUCTION OPEN, VOLUME: 2023, ISSUE: 2
INDEXED IN: WOS CrossRef: 8
IN MY: ORCID
3
TITLE: A de novo paradigm for male infertility
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; Fleischer K.; D’Hauwers K.W.M.; Schaafsma E.; Donald F Conrad; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; 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; Nagirnaja L.; Nagirnaja L.; Conrad D.F.; Friedrich C.; Kliesch S.; Aston K.I.; Aston K.I.; Riera-Escamilla A.; Krausz C.; Gonzaga-Jauregui C.; Santibanez-Koref M.; Elliott D.J.; Vissers L.E.L.M.; Tüttelmann F.; Ramos L.; Xavier M.J.; van der Heijden G.W.; Veltman J.A.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus CrossRef: 34
IN MY: ORCID
4
TITLE: Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
AUTHORS: Kasak, Laura; Lillepea, Kristiina; Nagirnaja, Liina; Aston, Kenneth, I; Schlegel, Peter N.; Goncalves, Joao; Carvalho, Filipa ; Moreno Mendoza, Daniel; Almstrup, Kristian; Eisenberg, Michael L.; Jarvi, Keith A.; O'Bryan, Moira K.; Lopes, Alexandra M. ; Conrad, Donald F.; Punab, Margus; Laan, Maris;
PUBLISHED: 2022, SOURCE: HUMAN REPRODUCTION, VOLUME: 37, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 3 Unpaywall
IN MY: ORCID
5
TITLE: Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility  Full Text
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Antonio Castilla, Jose; del Carmen Gonzalvo, Maria; Clavero, Ana; Maldonado, Vicente; Javier Vicente, Francisco; Burgos, Miguel; Jimenez, Rafael; Gonzalez Munoz, Sara; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra Manuel ; Jesus Palomino Morales, Rogelio; David Carmona, Francisco; ...More
PUBLISHED: 2022, SOURCE: ANDROLOGY, VOLUME: 10, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 3 Unpaywall
IN MY: ORCID
6
TITLE: Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
AUTHORS: Cervan Martin, Miriam; Bossini Castillo, Lara; Guzman Jimenez, Andrea; Rivera Egea, Rocio; Garrido, Nicolas; Lujan, Saturnino; Romeu, Gema; Santos Ribeiro, Samuel; Castilla, Jose A.; Gonzalvo, M. Carmen; Clavero, Ana; Vicente, F. Javier; Maldonado, Vicente; Gonzalez Munoz, Sara; Rodriguez Martin, Inmaculada; Burgos, Miguel; Jimenez, Rafael; Pinto, Maria Graca; Pereira, Isabel; Nunes, Joaquim; Sanchez Curbelo, Josvany; Lopez Rodrigo, Olga; Pereira Caetano, Iris; Marques, Patricia Isabel; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluis; Seixas, Susana; Goncalves, Joao; Larriba, Sara; Lopes, Alexandra M. ; Carmona, F. David; Palomino Morales, Rogelio J.; ...More
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef Unpaywall
IN MY: ORCID
7
TITLE: Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
AUTHORS: Guzmán Jiménez, A; González Muñoz, S; Cerván Martín, M; Rivera Egea, R; Garrido, N; Luján, S; Santos Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A; Vicente, FJ; Maldonado, V; Villegas Salmerón, J; Burgos, M; Jiménez, R; Pinto, MG; Pereira, I; Nunes, J; Sánchez Curbelo, J; López Rodrigo, O; Pereira Caetano, I; Marques, PI; Carvalho, F ; Barros, A; Bassas, L; Seixas, S; Gonçalves, J; Lopes, AM ; Larriba, S; Palomino Morales, RJ; Carmona, FD; Bossini Castillo, L; Group IVIRMA; Clinical Group Lisbon; ...More
PUBLISHED: 2022, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 10
INDEXED IN: Scopus WOS CrossRef: 1 Unpaywall
IN MY: ORCID
8
9
TITLE: Diverse monogenic subforms of human spermatogenic failure
AUTHORS: Nagirnaja, Liina; Lopes, Alexandra M. ; Charng, Wu Lin; Miller, Brian; Stakaitis, Rytis; Golubickaite, Ieva; Stendahl, Alexandra; Luan, Tianpengcheng; Friedrich, Corinna; Mahyari, Eisa; Fadial, Eloise; Kasak, Laura; Vigh Conrad, Katinka; Oud, Manon S.; Xavier, Miguel J.; Cheers, Samuel R.; James, Emma R.; Guo, Jingtao; Jenkins, Timothy G.; Riera Escamilla, Antoni; Barros, Alberto; Carvalho, Filipa ; Fernandes, Susana; Goncalves, Joao; Gurnett, Christina A.; Jorgensen, Niels; Jezek, Davor; Jungheim, Emily S.; Kliesch, Sabine; McLachlan, Robert, I; Omurtag, Kenan R.; Pilatz, Adrian; Sandlow, Jay; Smith, James; Eisenberg, Michael L.; Hotaling, James M.; Jarvi, Keith A.; Punab, Margus; Rajpert De Meyts, Ewa; Carrell, Douglas T.; Krausz, Csilla; Laan, Maris; O'Bryan, Moira K.; Schlegel, Peter N.; Tuettelmann, Frank; Veltman, Joris A.; Almstrup, Kristian; Aston, Kenneth, I; Conrad, Donald F.; ...More
PUBLISHED: 2022, SOURCE: NATURE COMMUNICATIONS, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 16 Unpaywall
IN MY: ORCID
10
TITLE: Early Gestational Diagnosis of Lethal Skeletal Dysplasias: A 15 Year Retrospective Cohort Reviewing Concordance between Ultrasonographic, Genetic and Morphological Features  Full Text
AUTHORS: Macedo, MP ; Carvalho, F ; Guimaraes, S; Rebelo, S; Ramalho C ;
PUBLISHED: 2022, SOURCE: FETAL AND PEDIATRIC PATHOLOGY, VOLUME: 41, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
Página 1 de 12. Total de resultados: 118.

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