Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 185



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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
122
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
AUTHORS: Monica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira ; Jose Pedro Vieira; Jinong Fen; Steve Sommer; Patrica Maciel ;
PUBLISHED: 2008, SOURCE: DISEASE MARKERS, VOLUME: 24, ISSUE: 6
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
123
124
TITLE: Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type  Full Text
AUTHORS: Temudo, T; Ramos, E ; Dias, K; Barbot, C ; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Fonseca, M; Cabral, A; Cabral, P; Monteiro, JP; Borges, L; Gomes, R; Santos, M; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2008, SOURCE: MOVEMENT DISORDERS, VOLUME: 23, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
125
TITLE: Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
AUTHORS: Bettencourt, C; Fialho, RN; Santos, C; Montiel, R; Bruges Armas, J ; Maciel, P ; Lima, M ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
126
TITLE: T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population
AUTHORS: Carvalho, A; Santos, M; Maciel, P ; Rodrigues, F ;
PUBLISHED: 2008, SOURCE: MULTIPLE SCLEROSIS, VOLUME: 14, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
127
TITLE: The C677T polymorphism in MTHFR is not associated with migraine in Portugal  Full Text
AUTHORS: Ferro, A; Castro, MJ; Lemos, C ; Santos, M; Sousa, A ; Pereira Monteiro, J; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2008, SOURCE: DISEASE MARKERS, VOLUME: 25, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
128
TITLE: Abnormal movements in Rett syndrome are present before the regression period: A case study  Full Text
AUTHORS: Teresa Temudo; Patricia Maciel ; Jorge Sequeiros ;
PUBLISHED: 2007, SOURCE: MOVEMENT DISORDERS, VOLUME: 22, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
129
TITLE: An explanation for another familial case of Rett syndrome: maternal germline mosaicism  Full Text
AUTHORS: Margarida Venancio; Monica Santos; Susana Aires Pereira; Patricia Maciel ; Jorge M Saraiva;
PUBLISHED: 2007, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 15, ISSUE: 8
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
130
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 13 of 19. Total results: 185.

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