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151

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

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152

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

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153

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

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154

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

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155

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

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156

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

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157

TITLE: Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3
AUTHORS: Gales, L ; Cortes, L ; Almeida, C; Melo, CV; Costa, MD; Maciel, P ; Clarke, DT; Damas, AM ; Macedo Ribeiro, S;
PUBLISHED: 2005, SOURCE: JOURNAL OF MOLECULAR BIOLOGY, VOLUME: 353, ISSUE: 3

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158

TITLE: Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin
AUTHORS: Santos, M; Costa, MD; Rio, ME; Sa, MJ ; Monteiro, M; Valenca, A; Sa, A; Dinis, J; Figueiredo, J; de Almeida, LB; Valongueiro, A; Coelho, I; Matama, MT ; Pinto Basto, J; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2004, SOURCE: MULTIPLE SCLEROSIS, VOLUME: 10, ISSUE: 2

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159

TITLE: A whole genome screen for association with multiple sclerosis in Portuguese patients Full Text
AUTHORS: Santos, M; Pinto Basto, J; Rio, ME; Sa, MJ ; Valenca, A; Sa, A; Dinis, J; Figueiredo, J; de Almeida, LB; Coelho, I; Sawcer, S; Setakis, E; Compston, A; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2003, SOURCE: JOURNAL OF NEUROIMMUNOLOGY, VOLUME: 143, ISSUE: 1-2

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