Patricia Espinheira Sá Maciel
AuthID: R-000-E14
121
TITLE: Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation Full Text
AUTHORS: Mónica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira; José Pedro Vieira; Jinong Fen; Steve Sommer; Patrícia Maciel;
PUBLISHED: 2008, SOURCE: Disease Markers, VOLUME: 24, ISSUE: 6
AUTHORS: Mónica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira; José Pedro Vieira; Jinong Fen; Steve Sommer; Patrícia Maciel;
PUBLISHED: 2008, SOURCE: Disease Markers, VOLUME: 24, ISSUE: 6
122
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
123
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
124
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
125
TITLE: Genetic study of Portuguese patients with Huntington disease-like phenotype
AUTHORS: Costa, MC; Pereira, MC; Magalhaes, P; Matama, MT; Ferreirinha, F; Cerqueira, J; Santos, MM ; Sequeiros, J ; Maciel, P;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
AUTHORS: Costa, MC; Pereira, MC; Magalhaes, P; Matama, MT; Ferreirinha, F; Cerqueira, J; Santos, MM ; Sequeiros, J ; Maciel, P;
PUBLISHED: 2003, SOURCE: Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 73, ISSUE: 5
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ORCID126
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
IN MY: ORCID | ResearcherID
ORCID | ResearcherID127
TITLE: Association study of multiple sclerosis in Portuguese patients: whole genome screen using 6000 microsatellite markers and a DNA pooling strategy
AUTHORS: Pinto Basto, J; Santos, M; Rio, ME; Valenca, A; Sequeiros, J ; 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: Pinto Basto, J; Santos, M; Rio, ME; Valenca, A; Sequeiros, J ; 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
WOS IN MY: ORCID
ORCID128
TITLE: Mutation in the PAX9 gene and absence of mutations in MSX1 gene in Portuguese families with hypodontia.
AUTHORS: Seada, PMP; Pinho, T; Pollman, C; Sequeiros, J ; Tavares, P; 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: Seada, PMP; Pinho, T; Pollman, C; Sequeiros, J ; Tavares, P; 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
WOS IN MY: ORCID
ORCID129
TITLE: Genetic and molecular study of migraine.
AUTHORS: Castro, MJ; Alonso, I; Maciel, P; Sousa, A; Guimaraes, L ; Fraga, C; Barros, José ; Sequeiros, J ; Peieira Monteiro, J; Silveira, I;
PUBLISHED: 2002, SOURCE: 52nd Annual Meeting of the American-Society-of-Human-Genetics in AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 71, ISSUE: 4
AUTHORS: Castro, MJ; Alonso, I; Maciel, P; Sousa, A; Guimaraes, L ; Fraga, C; Barros, José ; Sequeiros, J ; Peieira Monteiro, J; Silveira, I;
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
WOS IN MY: ORCID
ORCID130
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
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