Patricia Espinheira Sá Maciel
AuthID: R-000-E14
61
TITLE: An explanation for another familial case of Rett syndrome: maternal germline mosaicism Full Text
AUTHORS: Margarida Venâncio; Mónica Santos; Susana Aires Pereira; Patrícia Maciel; Jorge M Saraiva;
PUBLISHED: 2007, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 15, ISSUE: 8
AUTHORS: Margarida Venâncio; Mónica Santos; Susana Aires Pereira; Patrícia Maciel; Jorge M Saraiva;
PUBLISHED: 2007, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 15, ISSUE: 8
62
TITLE: Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) Full Text
AUTHORS: Jinxiu Shi; Akane Shibayama; Qiang Liu; Vu Q Nguyen; Jinong Feng; M�nica Santos; Teresa Temudo; Patricia Maciel; Steve S Sommer;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 25, ISSUE: 5
AUTHORS: Jinxiu Shi; Akane Shibayama; Qiang Liu; Vu Q Nguyen; Jinong Feng; M�nica Santos; Teresa Temudo; Patricia Maciel; Steve S Sommer;
PUBLISHED: 2005, SOURCE: Human Mutation - Hum. Mutat., VOLUME: 25, ISSUE: 5
63
TITLE: Population Genetics of Wild-Type CAG Repeats in the <i>Machado-Joseph Disease</i> Gene in Portugal
AUTHORS: Lima, M; M.C Costa; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A; Sequeiros, J; Coutinho, P; Maciel, P;
PUBLISHED: 2005, SOURCE: Human Heredity - Hum Hered, VOLUME: 60, ISSUE: 3
AUTHORS: Lima, M; M.C Costa; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A; Sequeiros, J; Coutinho, P; Maciel, P;
PUBLISHED: 2005, SOURCE: Human Heredity - Hum Hered, VOLUME: 60, ISSUE: 3
64
TITLE: Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene Full Text
AUTHORS: Costa, MD; Gomes Da Silva, J; Miranda, CJ; Sequeiros, J ; Santos, MM ; Maciel, P;
PUBLISHED: 2004, SOURCE: GENOMICS, VOLUME: 84, ISSUE: 2
AUTHORS: Costa, MD; Gomes Da Silva, J; Miranda, CJ; Sequeiros, J ; Santos, MM ; Maciel, P;
PUBLISHED: 2004, SOURCE: GENOMICS, VOLUME: 84, ISSUE: 2
IN MY: 
ResearcherID
ResearcherID65
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
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: WOS
WOS66
TITLE: Study of the normal CAG tract at the Huntington disease locus in the Portuguese population Full Text
AUTHORS: Costa, MC; Guimaraes, L ; Ferreirinha, F; Sousa, A; Maciel, P; Sequeiros, J ;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
AUTHORS: Costa, MC; Guimaraes, L ; Ferreirinha, F; Sousa, A; Maciel, P; Sequeiros, J ;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS
WOS67
TITLE: Frequency of SCA1, DRPLA, MJD, SCA2 and SCA6 mutations in a large group of Portuguese families with spinocerebellar ataxia Full Text
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Hayes, S; Dias, A; Guimaraes, J; Loureiro, LL; Barros, José ; Chorao, R; Ribeiro, P; Bettencourt, M; Serrano, P; Silva, C; Rouleau, GA; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Hayes, S; Dias, A; Guimaraes, J; Loureiro, LL; Barros, José ; Chorao, R; Ribeiro, P; Bettencourt, M; Serrano, P; Silva, C; Rouleau, GA; Sequeiros, J ;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 6
INDEXED IN: WOS
WOS68
TITLE: An intermediate allele of 51 repeats found at the Machado-Joseph disease (MJD) locus: implications for predictive testing and the study of the origin of MJD mutation.
AUTHORS: Maciel, P; Rousseau, M; Gaspar, C; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
AUTHORS: Maciel, P; Rousseau, M; Gaspar, C; Coutinho, P; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
WOS69
TITLE: Frequency of the CAG repeat mutations causing spinocerebellar ataxia in a large group of Portuguese ataxia families.
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
AUTHORS: Silveira, I; Coutinho, P; Maciel, P; Gaspar, C; Hayes, S; Dias, A; Guimaraes, J; Loureiro, L; Sequeiros, J ; Rouleau, GA;
PUBLISHED: 1997, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
WOS70
TITLE: Limits of Clinical Assessment in the Accurate Diagnosis of Machado-Joseph Disease
AUTHORS: Lopes-Cendes, I; Silveira, I; Maciel, P; Gaspar, C; Radvany, J; Chitayat, D; Babul, R; Stewart, J; Dolliver, M; Robitaille, Y; Rouleau, GA; Sequeiros, J;
PUBLISHED: 1996, SOURCE: Archives of Neurology, VOLUME: 53, ISSUE: 11
AUTHORS: Lopes-Cendes, I; Silveira, I; Maciel, P; Gaspar, C; Radvany, J; Chitayat, D; Babul, R; Stewart, J; Dolliver, M; Robitaille, Y; Rouleau, GA; Sequeiros, J;
PUBLISHED: 1996, SOURCE: Archives of Neurology, VOLUME: 53, ISSUE: 11
