Filipa Abreu Gomes de Carvalho


AuthID: R-000-K35

Confirmed Publications: 123



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TITLE: Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism  Full Text
AUTHORS: Matthias Titeux; Vanessa Mendonca; Audrey Decha; Elisabete Moreira; Sofia Magina ; Ana Maia; Laetitia Lacaze Buzy; Jose Enrique Mejia; Luis Torrao; Filipa Carvalho ; Julia Eca Guimaraes; Alain Hovnanian;
PUBLISHED: 2009, SOURCE: JOURNAL OF INVESTIGATIVE DERMATOLOGY, VOLUME: 129, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
73
TITLE: Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
AUTHORS: Ferreira, S; Valbuena, C; Carvalho, F ; Oliveira, JP ;
PUBLISHED: 2009, SOURCE: Human genetics, VOLUME: 126, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
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75
TITLE: Transmission of KID syndrome by a mosaic parent for a GJB2 mutation  Full Text
AUTHORS: Titeux, M; Mendonca, V; Decha, A; Moreira, E; Magina, S; Maia, A; Lacaze Buzy, L; E Mejia; Torrao, L; Carvalho, F ; Eca Guimaraes, J; Hovnanian, A;
PUBLISHED: 2009, SOURCE: Annual Congress of the French-Speaking-Society-for-Dermatological-Research in JOURNAL OF INVESTIGATIVE DERMATOLOGY, VOLUME: 129, ISSUE: 3
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
76
TITLE: Abnormal alpha-galactosidase mRNA transcripts are present in individuals with apparently normal exonic and splicing-site gene sequence
AUTHORS: Ferreira, S; Viana Baptista, M; Carvalho, F ; Fernandes, S; Ferro, J; Oliveira, JP ;
PUBLISHED: 2008, SOURCE: 8th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 30
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
77
TITLE: Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Carvalho, F ; Fernandes, S; Barros, A ; Sousa, M ;
PUBLISHED: 2008, SOURCE: MOLECULAR HUMAN REPRODUCTION, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 291
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
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TITLE: Establishment of genomic imprinting in human spermatogenesis
AUTHORS: Marques, CJ ; Costa, P; Vaz, B; Sousa, S; Carvalho, F ; Fernandes, S; Silva, J; Barros, A ; Sousa, M;
PUBLISHED: 2008, SOURCE: 17th Mammalian Genetics and Development Workshop of the Genetics-Society in GENETICS RESEARCH, VOLUME: 90, ISSUE: 3
INDEXED IN: WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
Page 8 of 13. Total results: 123.

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