António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
151
TITLE: 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization Full Text
AUTHORS: Garcia-Murias, M; Quintans, B; Arias, M; Seixas, AI; Cacheiro, P; Tarrio, R; Pardo, J; Millan, MJ; Arias-Rivas, S; Blanco-Arias, P; Dapena, D; Moreira, R; Rodriguez-Trelles, F; Sequeiros, J; Carracedo, A; Silveira, I; Sobrido, MJ;
PUBLISHED: 2012, SOURCE: Brain, VOLUME: 135, ISSUE: 5
AUTHORS: Garcia-Murias, M; Quintans, B; Arias, M; Seixas, AI; Cacheiro, P; Tarrio, R; Pardo, J; Millan, MJ; Arias-Rivas, S; Blanco-Arias, P; Dapena, D; Moreira, R; Rodriguez-Trelles, F; Sequeiros, J; Carracedo, A; Silveira, I; Sobrido, MJ;
PUBLISHED: 2012, SOURCE: Brain, VOLUME: 135, ISSUE: 5
152
TITLE: Long-term follow-up of patients with hereditary fibrinogen A alpha-chain amyloidosis Full Text
AUTHORS: Tavares, I; Lobato, L ; Moreira, L; Santos, J; Lacerda, P; Pinheiro, J; Costa, P ;
PUBLISHED: 2011, SOURCE: 12th International Symposium on Amyloidosis from Molecular Mechanisms Toward the Cure of Systemic Amyloidoses in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 18, ISSUE: SUPPL. 1
AUTHORS: Tavares, I; Lobato, L ; Moreira, L; Santos, J; Lacerda, P; Pinheiro, J; Costa, P ;
PUBLISHED: 2011, SOURCE: 12th International Symposium on Amyloidosis from Molecular Mechanisms Toward the Cure of Systemic Amyloidoses in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 18, ISSUE: SUPPL. 1
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Scopus WOS153
TITLE: First-Year Renal Function Predicts Long-Term Renal Allograft Loss Full Text
AUTHORS: Fonseca, I ; Almeida, M; Martins, LS; Santos, J; Dias, L; Lobato, L ; Henriques, AC; Mendonca, D ;
PUBLISHED: 2011, SOURCE: 9th Luso Brazilian Congress of Transplant in TRANSPLANTATION PROCEEDINGS, VOLUME: 43, ISSUE: 1
AUTHORS: Fonseca, I ; Almeida, M; Martins, LS; Santos, J; Dias, L; Lobato, L ; Henriques, AC; Mendonca, D ;
PUBLISHED: 2011, SOURCE: 9th Luso Brazilian Congress of Transplant in TRANSPLANTATION PROCEEDINGS, VOLUME: 43, ISSUE: 1
154
TITLE: Characterization of End-Stage Renal Disease After Liver Transplantation in Transthyretin Amyloidosis (ATTR V30M) Full Text
AUTHORS: Rocha, A; Lobato, L ; Silva, H; Beirao, I ; Santos, J; Pessegueiro, H; Almeida, R; Cabrita, A;
PUBLISHED: 2011, SOURCE: 9th Luso Brazilian Congress of Transplant in TRANSPLANTATION PROCEEDINGS, VOLUME: 43, ISSUE: 1
AUTHORS: Rocha, A; Lobato, L ; Silva, H; Beirao, I ; Santos, J; Pessegueiro, H; Almeida, R; Cabrita, A;
PUBLISHED: 2011, SOURCE: 9th Luso Brazilian Congress of Transplant in TRANSPLANTATION PROCEEDINGS, VOLUME: 43, ISSUE: 1
155
TITLE: Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Full Text
AUTHORS: Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon-Thomsen; Jean Jacques Cassiman; Gerry Evers-Kiebooms; Shirley Hodgson; Cécile C J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros; ...More
PUBLISHED: 2011, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 19
AUTHORS: Frauke Becker; Carla G van El; Dolores Ibarreta; Eleni Zika; Stuart Hogarth; Pascal Borry; Anne Cambon-Thomsen; Jean Jacques Cassiman; Gerry Evers-Kiebooms; Shirley Hodgson; Cécile C J W Janssens; Helena Kaariainen; Michael Krawczak; Ulf Kristoffersson; Jan Lubinski; Christine Patch; Victor B Penchaszadeh; Andrew Read; Wolf Rogowski; Jorge Sequeiros; ...More
PUBLISHED: 2011, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 19
156
TITLE: Dlg1-PTEN Interaction Regulates Myelin Thickness to Prevent Damaging Peripheral Nerve Overmyelination
AUTHORS: Laurent Cotter; Murat Ozcelik; Claire Jacob; Jorge A Pereira; Veronica Locher; Reto Baumann; Joao B Relvas ; Ueli Suter; Nicolas Tricaud;
PUBLISHED: 2010, SOURCE: SCIENCE, VOLUME: 328, ISSUE: 5984
AUTHORS: Laurent Cotter; Murat Ozcelik; Claire Jacob; Jorge A Pereira; Veronica Locher; Reto Baumann; Joao B Relvas ; Ueli Suter; Nicolas Tricaud;
PUBLISHED: 2010, SOURCE: SCIENCE, VOLUME: 328, ISSUE: 5984
157
TITLE: Direct impression on agar surface as a diagnostic sampling procedure for candida balanitis
AUTHORS: Carmen Lisboa ; Antonio Santos; Filomena Azevedo; Cidalia Pina Vaz ; Acacio Goncalves Rodrigues ;
PUBLISHED: 2010, SOURCE: SEXUALLY TRANSMITTED INFECTIONS, VOLUME: 86, ISSUE: 1
AUTHORS: Carmen Lisboa ; Antonio Santos; Filomena Azevedo; Cidalia Pina Vaz ; Acacio Goncalves Rodrigues ;
PUBLISHED: 2010, SOURCE: SEXUALLY TRANSMITTED INFECTIONS, VOLUME: 86, ISSUE: 1
158
TITLE: Scope of definitions of genetic testing: evidence from a EuroGentest survey
AUTHORS: Jorge Pinto-Basto; Bárbara Guimarães; Elina Rantanen; Poupak Javaher; Irma Nippert; Jean-Jacques Cassiman; Helena Kääriäinen; Ulf Kristoffersson; Jörg Schmidtke; Jorge Sequeiros;
PUBLISHED: 2010, SOURCE: Journal of Community Genetics - J Community Genet, VOLUME: 1, ISSUE: 1
AUTHORS: Jorge Pinto-Basto; Bárbara Guimarães; Elina Rantanen; Poupak Javaher; Irma Nippert; Jean-Jacques Cassiman; Helena Kääriäinen; Ulf Kristoffersson; Jörg Schmidtke; Jorge Sequeiros;
PUBLISHED: 2010, SOURCE: Journal of Community Genetics - J Community Genet, VOLUME: 1, ISSUE: 1
159
TITLE: Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J; Maciel, P; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: Anales de Pediatría, VOLUME: 72, ISSUE: 3
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J; Maciel, P; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: Anales de Pediatría, VOLUME: 72, ISSUE: 3
160
TITLE: EMQN Best Practice Guidelines for molecular genetic testing of SCAs Full Text
AUTHORS: Jorge Sequeiros; Joanne Martindale; Sara Seneca;
PUBLISHED: 2010, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 11
AUTHORS: Jorge Sequeiros; Joanne Martindale; Sara Seneca;
PUBLISHED: 2010, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 11
