Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 121



41
TITLE: Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study  Full Text
AUTHORS: Jos Dreesen; Aspasia Destouni; Georgia Kourlaba; Birte Degn; Wulf Christensen Mette; Filipa Carvalho ; Celine Moutou; Sioban Sengupta; Seema Dhanjal; Pamela Renwick; Steven Davies; Emmanouel Kanavakis; Gary Harton; Joanne Traeger Synodinos;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 55
IN MY: ORCID | CIÊNCIAVITAE
42
TITLE: Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes  Full Text
AUTHORS: Amilcar Cordeiro ; Ana P Paula Neto; Filipa Carvalho ; Ramalho C ; Sofia Doria ;
PUBLISHED: 2014, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 31, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 41
IN MY: ORCID | CIÊNCIAVITAE
43
TITLE: Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children  Full Text
AUTHORS: Madureira, C; Cunha, M; Sousa, M ; Neto, AP; Pinho, MJ; Viana, P; Goncalves, A; Silva, J; Teixeira da Silva, JT; Oliveira, C; Ferraz, L; Doria, S ; Carvalho, F ; Barros, A ;
PUBLISHED: 2014, SOURCE: ANDROLOGY, VOLUME: 2, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 57
IN MY: ORCID | CIÊNCIAVITAE
44
TITLE: An Alu-mediated 1Mb deletion removes Wilms’ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidism
AUTHORS: Catarina Seabra; Sofia Quental; Ana Neto; Filipa Carvalho ; João Gonçalves; Susana Fernandes; Mário Sousa; Alberto Barros; Amorim, Antonio; Alexandra M Lopes;
PUBLISHED: 2013, SOURCE: Florence-Utah International Symposium: Genetics of male infertility, 19-20 Setembro 2013
INDEXED IN: Handle
IN MY: ORCID
45
46
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID | CIÊNCIAVITAE
47
TITLE: Expression of stem cell markers: OCT4, KIT, ITGA6, and ITGB1 in the male germinal epithelium  Full Text
AUTHORS: Rosalia Sa ; Catarina Miranda; Filipa Carvalho ; Alberto Barros ; Mario Sousa ;
PUBLISHED: 2013, SOURCE: SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, VOLUME: 59, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 19
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
48
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
IN MY: ORCID
49
TITLE: MOLECULAR CHARACTERIZATION OF 65 PORTUGUESE FAMILIES WITH CLINICAL DIAGNOSIS OF COLLAGEN TYPE IV GLOMERULOPATHIES
AUTHORS: Maria J N Sa; Susana Alves; Helen Storey; Frances Flinter; Patrick J Willems; Filipa Carvalho ; Joao Oliveira;
PUBLISHED: 2013, SOURCE: 50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 28
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
50
TITLE: Biomarkers Expression in Human Seminiferous Epithelium
AUTHORS: Sa, R; Miranda, C; Leite, C; Malheiro, I; Carvalho, F ; Silva, J; Barros, A ; Sousa, M ;
PUBLISHED: 2012, SOURCE: MICROSCOPY AND MICROANALYSIS, VOLUME: 18, ISSUE: SUPPL.5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
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