Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 191



161
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
IN MY: ORCID | CIÊNCIAVITAE
162
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 | CIÊNCIAVITAE
163
TITLE: Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles
AUTHORS: Maciel, P ; Yan, J; Feng, J; Accurso, F; Sommer, S;
PUBLISHED: 2003, SOURCE: BIOTECHNIQUES, VOLUME: 34, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
164
TITLE: Genomic structure, promoter activity and developmental expression of the mouse homologue of the Machado-Joseph disease gene
AUTHORS: Costa, MC; Miranda, C; Tessaro, M; Sequeiros, J ; Santos, MM ; Maciel, P ;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 26
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
165
TITLE: Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population
AUTHORS: Costa, MD; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2002, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 47, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID | CIÊNCIAVITAE
166
TITLE: Rett's syndrome. Clinical features and advances in genetics [Síndrome de Rett. Características clínicas y avances genéticos.]
AUTHORS: Temudo, T; Maciel, P ;
PUBLISHED: 2002, SOURCE: Revista de neurologia, VOLUME: 34 Suppl 1
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
167
TITLE: Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study
AUTHORS: Gaspar, C; Lopes Cendes, I; Hayes, S; Goto, J; Arvidsson, K; Dias, A; Silveira, I ; Maciel, P ; Coutinho, P ; Lima, M ; Zhou, YX; Soong, BW; Watanabe, M; Giunti, P; Stevanin, G; Riess, O; Sasaki, H; Hsieh, M; Nicholson, GA; Brunt, E; Higgins, JJ; Lauritzen, M; Tranebjaerg, L; Volpini, V; Wood, N; Ranum, L; Tsuji, S; Brice, A; Sequeiros, J ; Rouleau, GA; ...More
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 68, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
168
TITLE: Improvement in the molecular diagnosis of Machado-Joseph disease
AUTHORS: Maciel, P ; Costa, MDC; Ferro, A; Rousseau, M; Santos, CS; Gaspar, C; Barros, José ; Rouleau, GA; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2001, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 58, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
169
TITLE: The genomic structure and expression of MJD, the Machado-Joseph disease gene  Full Text
AUTHORS: Ichikawa, Y; Goto, J; Hattori, M; Toyoda, A; Ishii, K; Jeong, SY; Hashida, H; Masuda, N; Ogata, K; Kasai, F; Hirai, M; Maciel, P ; Rouleau, GA; Sakaki, Y; Kanazawa, I;
PUBLISHED: 2001, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 46, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
170
TITLE: High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles
AUTHORS: Silveira, I ; Alonso, I ; Guimaraes, L ; Mendonca, P; Santos, C; Maciel, P ; de Matos, JMF; Costa, M; Barbot, C ; Tuna, A; Barros, José ; Jardim, L; Coutinho, P ; Sequeiros, J ;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 66, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 66
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
Page 17 of 20. Total results: 191.

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