Alda Maria Botelho Correia Sousa


AuthID: R-000-07J

Confirmed Publications: 31



21
TITLE: Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden  Full Text
AUTHORS: Soares, ML ; Coelho, T; Sousa, A ; Holmgren, GS; Saraiva, MJ ; Kastner, DL; Buxbaum, JN;
PUBLISHED: 2004, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 12, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 47
IN MY: ORCID
22
TITLE: Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy
AUTHORS: Lobato, L ; Beirao, I ; Silva, M; Bravo, F; Silvestre, F; Guimaraes, S; Sousa, A ; Noel, LH; Sequeiros, J ;
PUBLISHED: 2003, SOURCE: NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 18, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 40
IN MY: ORCID
23
TITLE: Inherited and acquired risk factors and their combined effects in pediatric stroke  Full Text
AUTHORS: Barreirinho, S; Ferro, A; Santos, M; Costa, E ; Pinto Basto, J; Sousa, A ; Sequeiros, J ; Maciel, P ; Barbot, C ; Barbot, J;
PUBLISHED: 2003, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 28, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 56
IN MY: ORCID
24
TITLE: Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice
AUTHORS: Costa, MD ; Magalhaes, P; Ferreirinha, F ; Guimaraes, L ; Januario, C; Gaspar, I; Loureiro, L; Vale, J; Garrett, C ; Regateiro, F; Magalhaes, M; Sousa, A ; Maciel, P ; Sequeiros, J ;
PUBLISHED: 2003, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 11, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 15 Handle
IN MY: ORCID
25
TITLE: Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions  Full Text
AUTHORS: Soares, M ; Buxbaum, J; Sirugo, G; Coelho, T; Sousa, A ; Kastner, D; Saraiva, MJ ;
PUBLISHED: 1999, SOURCE: HUMAN GENETICS, VOLUME: 104, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
26
TITLE: Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)(n) tract  Full Text
AUTHORS: Maciel, P ; Gasper, C; Guimaraes, L ; Goto, J; Lopez Cendes, I; Hayes, S; Arvidsson, K; Dias, A; Sequeiros, J ; Sousa, A ; Rouleau, GA;
PUBLISHED: 1999, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 7, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID
27
TITLE: Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal)
AUTHORS: Sousa, A ; Coelho, T; Barros, José ; Sequeiros, J ;
PUBLISHED: 1995, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS, VOLUME: 60, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
28
TITLE: A STUDY OF 159 PORTUGUESE PATIENTS WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY (FAP) WHOSE PARENTS WERE BOTH UNAFFECTED
AUTHORS: COELHO, T; SOUSA, A ; LOURENCO, E; RAMALHEIRA, J;
PUBLISHED: 1994, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 31, ISSUE: 4
INDEXED IN: Scopus WOS
IN MY: ORCID
29
TITLE: FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - A PEDIGREE ANALYSIS
AUTHORS: DRUGGE, U; ANDERSSON, R; CHIZARI, F; DANIELSSON, M; HOLMGREN, G; SANDGREN, O; SOUSA, A ;
PUBLISHED: 1993, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 30, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID
30
TITLE: FAMILIAL AMYLOIDOTIC POLYNEUROPATHY IN SWEDEN - GEOGRAPHICAL-DISTRIBUTION, AGE-OF-ONSET, AND PREVALENCE
AUTHORS: SOUSA, A ; ANDERSSON, R; DRUGGE, U; HOLMGREN, G; SANDGREN, O;
PUBLISHED: 1993, SOURCE: HUMAN HEREDITY, VOLUME: 43, ISSUE: 5
INDEXED IN: Scopus WOS
IN MY: ORCID
Page 3 of 4. Total results: 31.

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