111
TITLE: The need for interaction between assisted reproduction technology and genetics: Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology
AUTHORS: Ayme, S; Kaariainen, H; Coviello, D; Anastasiadou, V; Braga, S; Cornel, M; Evers Kiebooms, G; Kostolanyi, G; Sequeiros, J ; Tranebjaerg, L; Geraedts, JPM; Gianaroli, L; Harper, J; Lundin, K; Sermon, K;
PUBLISHED: 2006, SOURCE: Human Reproduction, VOLUME: 21, ISSUE: 8
INDEXED IN: Scopus CrossRef: 3
IN MY: ORCID
112
TITLE: The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory  Full Text
AUTHORS: Rolim, L; Zagalo Cardoso, JA; Constança Paul ; Sequeiros, J ; Fleming, M;
PUBLISHED: 2006, SOURCE: Journal of Genetic Counseling, VOLUME: 15, ISSUE: 5
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
113
TITLE: A novel H101Q mutation causes PKC gamma loss in spinocerebellar ataxia type 14  Full Text
AUTHORS: Alonso, I ; Costa, C; Gomes, A; Ferro, A; Seixas, AI; Silva, S; Cruz, VT ; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2005, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 50, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 30
IN MY: ORCID
114
TITLE: Haplotype diversity and somatic instability in normal and expanded SCA8 alleles  Full Text
AUTHORS: Martins, S ; Seixas, AI; Magalhaes, P; Coutinho, P ; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2005, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 139B, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
115
TITLE: Huntington's disease in Portugal: Seven year experience of the reference laboratory
AUTHORS: Magalhaes, P; Costado, MC; Ferreirinha, F; Guimaraes, L ; Januario, C; Gaspar, I; Loureiro, L; Vale, J; Garrett, C; Regateiro, F; Magalhaes, M; Sousa, A; Maciel, P; Sequeiros, J ;
PUBLISHED: 2005, SOURCE: World Congress on Huntingtons Disease in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 76
INDEXED IN: WOS
116
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
117
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
118
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
119
TITLE: Size distribution, dynamics, and haplotype studies of the (CAG)n at the HD locus in 140 affected families and the general Portuguese population
AUTHORS: Costado, MC; Magalhaes, P; Guimaraes, L ; Maciel, P; Sousa, A; Sequeiros, J ;
PUBLISHED: 2005, SOURCE: World Congress on Huntingtons Disease in JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, VOLUME: 76
INDEXED IN: WOS
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