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Filipa Abreu Gomes de Carvalho
AuthID:
R-000-K35
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Document Source:
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Document Type:
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Article (89)
Abstract (23)
Letter (2)
Note (2)
Proceedings Paper (1)
Review (1)
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Results:
10
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Confirmed Publications: 118
71
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
72
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
73
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
:
284
IN MY:
ORCID
|
ResearcherID
74
TITLE:
Cytological and Expression Studies and Quantitative Analysis of the Temporal and Stage-Specific Effects of Follicle-Stimulating Hormone and Testosterone During Cocultures of the Normal Human Seminiferous Epithelium
AUTHORS:
Rosalia Sa
; Rui Neves;
Susana Fernandes
;
Claudia Alves
;
Filipa Carvalho
; Joaquina Silva;
Nieves Cremades
;
Isabel Malheiro
;
Alberto Barros
;
Mario Sousa
;
PUBLISHED:
2008
,
SOURCE:
BIOLOGY OF REPRODUCTION,
VOLUME:
79,
ISSUE:
5
INDEXED IN:
Scopus
WOS
CrossRef
:
22
IN MY:
ORCID
|
ResearcherID
75
TITLE:
Effect of single-nucleotide polymorphisms of the 5 ' untranslated region of the human alpha-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians
Full Text
AUTHORS:
Oliveira, JP
;
Ferreira, S
; Barcelo, J;
Gaspar, P
;
Carvalho, F
;
Miranda, MCS
; Mansson, JE;
PUBLISHED:
2008
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE,
VOLUME:
31,
ISSUE:
S2
INDEXED IN:
Scopus
WOS
CrossRef
:
12
IN MY:
ORCID
|
ResearcherID
76
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
77
TITLE:
Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains
AUTHORS:
Ana Grangeia
; Rene Barro Soria;
Filipa Carvalho
;
Ana M Damas
;
Ana Colette Mauricio
;
Karl Kunzelmann
;
Alberto Barros
;
Mario Sousa
;
PUBLISHED:
2008
,
SOURCE:
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY,
VOLUME:
22,
ISSUE:
1-4
INDEXED IN:
Scopus
WOS
CrossRef
:
7
IN MY:
ORCID
|
ResearcherID
78
TITLE:
The g.1170C > T polymorphism of the 5 ' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression-Evidence from a family study
Full Text
AUTHORS:
Oliveira, JP
;
Ferreira, S
;
Reguenga, C
;
Carvalho, F
; Mansson, JE;
PUBLISHED:
2008
,
SOURCE:
JOURNAL OF INHERITED METABOLIC DISEASE,
VOLUME:
31,
ISSUE:
S2
INDEXED IN:
Scopus
WOS
CrossRef
:
17
IN MY:
ORCID
|
ResearcherID
79
TITLE:
A complex case at prenatal diagnosis
AUTHORS:
Pinto Leite; Souto, M; Carvalho, B; Marques, B;
Carvalho, F
; Ribeiro, E;
PUBLISHED:
2007
,
SOURCE:
6th European Cytogenetics Conference
in
CHROMOSOME RESEARCH,
VOLUME:
15
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
80
TITLE:
Analysis of H19 and MEST/PEG1 and Line 1 transposon methylation patterns in oligozoospermia
AUTHORS:
Carvalho, F
;
Marques, CJ
;
Costa, P
; Vaz, B; Fernandes, S; Arnaud, P;
Barros, A
; Sousa, M;
PUBLISHED:
2007
,
SOURCE:
23rd Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology
in
HUMAN REPRODUCTION,
VOLUME:
22
INDEXED IN:
WOS
IN MY:
ORCID
|
ResearcherID
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