ProfileOfResearchers

TITLE: What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective Full Text
AUTHORS: Lidia Guimaraes; Jorge Sequeiros ; Heather Skirton; Milena Paneque ;
PUBLISHED: 2013, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 22, ISSUE: 4

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TITLE: 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization Full Text
AUTHORS: Maria Garcia Murias; Beatriz Quintans; Manuel Arias; Ana I Seixas; Pilar Cacheiro; Rosa Tarrio; Julio Pardo; Maria J Millan; Susana Arias Rivas; Patricia Blanco Arias; Dolores Dapena; Ramon Moreira; Francisco Rodriguez Trelles; Jorge Sequeiros ; Angel Carracedo; Isabel Silveira ; Maria J Sobrido;
PUBLISHED: 2012, SOURCE: BRAIN, VOLUME: 135, ISSUE: 5

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TITLE: Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
AUTHORS: Maria Conceicao Pereira; Jose Leal Loureiro ; Jorge Pinto Basto; Eva Brandao; Ana Margarida Lopes; Georgina Neves; Pureza Dias; Ruth Geraldes; Isabel Pavao Martins ; Vitor Tedim Cruz ; Erik Jan Kamsteeg; Han G Brunner; Paula Coutinho ; Jorge Sequeiros ; Isabel Alonso ;
PUBLISHED: 2012, SOURCE: GENETICS IN MEDICINE, VOLUME: 14, ISSUE: 1

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TITLE: Assessing Risk Factors for Migraine: Differences in Gender Transmission Full Text
AUTHORS: Carolina Lemos ; Isabel Alonso ; Barros, José ; Jorge Sequeiros ; Jose Pereira Monteiro ; Denisa Mendonca ; Alda Sousa ;
PUBLISHED: 2012, SOURCE: PLOS ONE, VOLUME: 7, ISSUE: 11

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TITLE: Ataxia Rating Scales-Psychometric Profiles, Natural History and Their Application in Clinical Trials Full Text
AUTHORS: Jonas Alex M Morales Saute; Karina Carvalho Donis; Carmen Serrano Munuera; David Genis; Luis T Torres Ramirez; Pilar Mazzetti; Luis V Velazquez Perez; Pilar Latorre; Jorge Sequeiros ; Antoni Matilla Duenas; Laura Bannach Jardim;
PUBLISHED: 2012, SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 2

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TITLE: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
AUTHORS: M Lee; Ramos, EM; H Lee; Gillis, T; Mysore, JS; Hayden, MR; Warby, SC; Morrison, P; Nance, M; Ross, CA; Margolis, RL; Squitieri, F; Orobello, S; Di Donato, S; Gomez Tortosa, E; Ayuso, C; Suchowersky, O; Trent, RJA; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint Hilaire, MH; Hersch, SM; Rosas, HD; Lucente, D; Harrison, MB; Zanko, A; Abramson, RK; Marder, K; Sequeiros, J ; Paulsen, JS; Landwehrmeyer, GB; Myers, RH; MacDonald, ME; Gusella, JF; ...More
PUBLISHED: 2012, SOURCE: NEUROLOGY, VOLUME: 78, ISSUE: 10

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TITLE: Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
AUTHORS: Jong Min Lee; Tammy Gillis; Jayalakshmi Srinidhi Mysore; Eliana Marisa Ramos; Richard H Myers; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Ferdinando Squitieri; Annamaria Griguoli; Stefano Di Donato; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; Jorge Sequeiros ; Marcy E MacDonald; James F Gusella; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 3

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TITLE: Definitions of genetic testing in European legal documents
AUTHORS: Varga, O; Soini, S; Kaariainen, H; Cassiman, JJ; Nippert, I; Rogowski, W; Nys, H; Kristoffersson, U; Schmidtke, J; Sequeiros, J ;
PUBLISHED: 2012, SOURCE: Journal of Community Genetics, VOLUME: 3, ISSUE: 2

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