António Jorge dos Santos Pereira de Sequeiros


AuthID: R-000-23K

Confirmed Publications: 240



81
TITLE: Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease  Full Text
AUTHORS: Sandra Martins ; Paula Coutinho ; Isabel Silveira ; Paola Giunti; Laura B Jardim; Francesc Calafell; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 147B, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
82
TITLE: Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics (European Journal of Human Genetics) (2008) vol. 16 (405-411) 10.1038/sj.ejhg.5201929)  Full Text
AUTHORS: Ayme, S; Matthijs, G; Anastasiadou, V; Atalar, F; Braga, S; Burn, J; Cassiman, JJ; Cornel, M; Coviello, D; Evers Kiebooms, G; Gorry, P; Hodgson, S; Kaariainen, H; Kosztolanyi, G; Kristoffersson, U; Macek, M; Patch, C; Schmidtke, J; Sequeiros, J ; Stoppa Lyonnet, D; Tranebjaerg, L; van Heyningen, V; van Ommen, GJ; ...More
PUBLISHED: 2008, SOURCE: European Journal of Human Genetics, VOLUME: 16, ISSUE: 9
INDEXED IN: Scopus CrossRef
IN MY: ORCID
83
TITLE: EuroGentest: DNA-based testing for heritable disorders in Europe
AUTHORS: Poupak Javahera; Helena Kaariainen; Ulf Kristoffersson; Irmgard Nippert; Jorge Sequeiros ; Ron Zirnmern; Joerg Schmidtke;
PUBLISHED: 2008, SOURCE: COMMUNITY GENETICS, VOLUME: 11, ISSUE: 2
INDEXED IN: Scopus WOS
84
TITLE: Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias  Full Text
AUTHORS: Sara Seneca; Michael A Morris; Simon Patton; Rob Elles; Jorge Sequeiros ;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
85
TITLE: Huntington disease-like 2: the first patient with apparent European ancestry  Full Text
AUTHORS: Santos, C; Wanderley, H; Vedolin, L; D. J. Pena; Jardim, L; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
86
TITLE: Huntington's disease and Huntington-like phenotype: 10 years of local molecular diagnostic experience
AUTHORS: Santos, C; Cerqueira, J; Magalhaes, P; Costa, MC; Jardim, L; Costa, C; Cruz, V ; Coutinho, P; Maciel, P; Sequeiros, J ;
PUBLISHED: 2008, SOURCE: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 79
INDEXED IN: WOS
87
TITLE: Machado-joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population  Full Text
AUTHORS: Prestes, PR; Saraiva Pereira, ML; Silveira, I ; Sequeiros, J ; Jardim, LB;
PUBLISHED: 2008, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 72, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
88
TITLE: Motor and cognitive deficits in the heterozygous leaner mouse, a Ca(v)2.1 voltage-gated Ca2+ channel mutant  Full Text
AUTHORS: Alonso, I ; Marques, JM; Sousa, N ; Sequeiros, J ; Olsson, IAS ; Silveira, I ;
PUBLISHED: 2008, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 29, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
89
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
90
TITLE: Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives  Full Text
AUTHORS: Elina Rantanen; Marja Hietala; Ulf Kristoffersson; Irmgard Nippert; Jorg Schmidtke; Jorge Sequeiros ; Helena Kaariainen;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 9 of 24. Total results: 240.

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