101
TITLE: Report of an international survey of molecular genetic testing laboratories
AUTHORS: Margaret M McGovern; Rob Elles; Isabella Beretta; Martin J Somerville; Gerald Hoefler; Mauri Keinanen; David Barton; Nancy Carson; Elisabeth Dequeker; Radim Brdicka; Alena Blazkova; Segolene Ayme; Birgit Schnieders; Clemens R Mueller; Vibeke Dalen; Armando Albert Martinez; Ulf Kristoffersson; Meral Ozguc; Hansjakob Mueller; Joe Boone; Ira M Lubin; Jorge Sequeiros ; Domenica Taruscios; Bob Williamson; Lynn Mainland; Hiroshi Yoshikura; Elettra Ronchi; ...More
PUBLISHED: 2007, SOURCE: COMMUNITY GENETICS, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
102
TITLE: Stereotypies in Rett syndrome - Analysis of 83 patients with and without detected MECP2 mutations
AUTHORS: Temudo, T; Oliveira, P ; Santos, M; Dias, K; Vieira, J; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Barbot, C ; Fonseca, M; Cabral, A; Dias, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Barbosa, C; Mira, G; Eusebio, F; Santos, M; Sequeiros, J ; Maciel, P ; ...More
PUBLISHED: 2007, SOURCE: NEUROLOGY, VOLUME: 68, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
103
TITLE: A high throughput mutation screen of human ion channel genes in episodic neurological disorders  Full Text
AUTHORS: Ronald Lafreniere; F Poulin; Simoneau, M; Gupta, N; Lafreniere, F; Boisvert, K; Anton, A; McLaughlan Edwards, S; Albanese, M; Charles, MK; Laurent, S; Ebers, G; Cader, Z; Sequeiros, J ; Pereira M P Monteiro; Turecki, G; Alda, M; Grof, P; Chouinard, S; Brais, B; Cossette, P; Rouleau, GA; ...More
PUBLISHED: 2006, SOURCE: 14th World Congress on Psychiatric Genetics in AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, VOLUME: 141B, ISSUE: 7
INDEXED IN: WOS
104
TITLE: A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus  Full Text
AUTHORS: Sandra Martins ; Francesc Calafell; Virginia C N Wong; Jorge Sequeiros ; Amorim, Antonio ;
PUBLISHED: 2006, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 14, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
105
TITLE: Corino Andrade (1906-2005): a clinical geneticist before its own time - In memoriam  Full Text
AUTHORS: Sequeiros, J ;
PUBLISHED: 2006, SOURCE: CLINICAL GENETICS, VOLUME: 69, ISSUE: 2
INDEXED IN: Scopus WOS
106
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
107
TITLE: Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 [Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2]
AUTHORS: Castro, MJ; Barros, J; Lemos, C ; Mendes, A; Vanmolkot, K; Frants, R; Sequeiros, J ; Monteiro, JP; van den Maagdenberg, A;
PUBLISHED: 2006, SOURCE: Sinapse, VOLUME: 6, ISSUE: 2
INDEXED IN: Scopus
IN MY: ORCID
109
TITLE: Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10
AUTHORS: Alonso, I ; Jardim, LB; Artigalas, O; Saraiva Pereira, ML; Matsuura, T; Ashizawa, T; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2006, SOURCE: NEUROLOGY, VOLUME: 66, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
110
TITLE: Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings  Full Text
AUTHORS: Trott, A; Jardim, LB; Ludwig, HT; Saute, JAM; Artigalas, O; Kieling, C; Wanderley, HYC; Rieder, CRM; Monte, TL; Socal, M; Alonso, I ; Ferro, A; Carvalho, T; do Ceu Moreira, M; Mendonca, P; Ferreirinha, F ; Silveira, I ; Sequeiros, J ; Giugliani, R; Saraiva Pereira, ML;
PUBLISHED: 2006, SOURCE: CLINICAL GENETICS, VOLUME: 70, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID
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