Patricia Espinheira Sá Maciel


AuthID: R-000-E14

Confirmed Publications: 185



141
TITLE: Chromatin remodeling and neuronal function: Exciting links  Full Text
AUTHORS: Santos, M; Coelho, PA; Maciel, P ;
PUBLISHED: 2006, SOURCE: Genes, Brain and Behavior, VOLUME: 5, ISSUE: SUPPL. 2
INDEXED IN: Scopus CrossRef
IN MY: ORCID | CIÊNCIAVITAE
142
TITLE: Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype  Full Text
AUTHORS: Maria do Carmo Costa; Andreia Teixeira Castro ; Marco Constante; Marina Magalhaes; Paula Magalhaes; Joana Cerqueira; Jose Vale; Vitorina Passao; Celia Barbosa; Conceicao Robalo; Paula Coutinho ; Barros, José ; Manuela M Santos; Jorge Sequeiros ; Patricia Maciel ;
PUBLISHED: 2006, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 51, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
143
TITLE: The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation
AUTHORS: Costa, MD; Magalhaes, P; Guimaraes, L ; Maciel, P ; Sequeiros, J ; Sousa, A ;
PUBLISHED: 2006, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 51, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID | CIÊNCIAVITAE
144
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
145
TITLE: Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).
AUTHORS: Shi, J; Shibayama, A; Liu, Q; Nguyen, VQ; Feng, J; Santos, M; Temudo, T; Maciel, P ; Sommer, SS;
PUBLISHED: 2005, SOURCE: Human mutation., VOLUME: 25, ISSUE: 5
INDEXED IN: Scopus
IN MY: ORCID | CIÊNCIAVITAE
146
TITLE: Developmental absence of maxillary lateral incisors in the Portuguese population
AUTHORS: Pinho, T; Tavares, P; Maciel, P ; Pollmann, C;
PUBLISHED: 2005, SOURCE: EUROPEAN JOURNAL OF ORTHODONTICS, VOLUME: 27, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
147
TITLE: Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
AUTHORS: Maciel, P ; Cruz, VT ; Constante, M; Iniesta, I; Costa, MC; Gallati, S; Sousa, N ; Sequeiros, J ; Coutinho, P ; Santos, MM;
PUBLISHED: 2005, SOURCE: NEUROLOGY, VOLUME: 65, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 80
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
148
TITLE: Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea  Full Text
AUTHORS: Costa, MD; Costa, C; Silva, AP ; Evangelista, P; Santos, L; Ferro, A; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2005, SOURCE: NEUROGENETICS, VOLUME: 6, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 36
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
149
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
150
TITLE: Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal
AUTHORS: Lima, M ; Costa, MC; Montiel, R; Ferro, A; Santos, C; Silva, C; Bettencourt, C; Sousa, A ; Sequeiros, J ; Coutinho, P ; Maciel, P ;
PUBLISHED: 2005, SOURCE: HUMAN HEREDITY, VOLUME: 60, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
Page 15 of 19. Total results: 185.

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