引用次数
引用: 12,791
H-指数: 58
I10-指数 : 188
出版物: 470
European workshop on genetic testing offer in Europe
AYME Segolene , GRIBALDO Laura , MATTHIJS Gert , WALIGORA Jaroslaw
Publication Office of the European Union
4
2013
Predictive testing for two neurodegenerative disorders (FAP and HD): A psychological point of view
Lêdo Susana , Paneque Milena , Rocha José , Leite Ângela
Open Journal of Genetics 3 ( 4) 270 -279
6
2013
Mutation in the PAX9 gene and absence of mutations in MSX1 gene in Portuguese patients with hypodontia.
Pedro Seada , Maciel Patrícia. Pinho , Teresa , Pollman Cristina
American Journal Human Genetics 71 ( 4) 365(1129) -365(1129)
2002
[Clinical, genetic and pathological aspects of Machado-Joseph disease].
P Coutinho , J Sequeiros ,
Journal de génétique humaine 29 ( 3) 203
13
1981
Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal Vinte Anos de um Protocolo de Teste Pré-Sintomático para Doenças Neurológicas de Início Tardio em Portugal
Milena PANEQUE , Joana FÉLIX , Álvaro MENDES , Carolina LEMOS
Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova
Milena PANEQUE , Catarina COSTA , Carolina LEMOS , Miguel ALVES-FERREIRA
decision-making 2 3 -3
Análise genética das causas da vairiação fenotípica na doença de Machado-Joseph
JORGE Sequeiros ,
ICBAS, University of Porto
5
1989
Autossomal dominant cerebellar ataxia-frequency analysis and clinical characterization of 45 families from Portugal
P Bugalho , J Vale , I Silveira , J Sequeiras
MOVEMENT DISORDERS 24 S8 -S8
2009
SOBRE OS BANCOS DE SANGUE DO CORDÃO UMBILICAL, TECIDO DO CORDÃO UMBILICAL E PLACENTA
JORGE SEQUEIROS , MARIA DO CÉU PATRÃO NEVES
FMR1 premutations may be associated with a wider spectrum of phenotypes
Ana Seixas , José Vale , Márcia Martins , Joana Loureiro
15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011 74
2011
Fragile X syndrome: intergenerational allele instability and associated phenotypes in families
Loureiro Joana , Isabel Marques , Rosário Santos , Ana Seixas
16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 22-24 Novembro 2012
2012
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
Patrícia Maciel , Claudia Gaspar , Anita L DeStefano , Isabel Silveira
American Journal of Human Genetics 57 ( 1) 54 -61
243
1995
Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes
Joana Loureiro , Paula Jorge , Isabel Marques , Rosário Santos
European Human Genetics Conference, June 23-26, 2012
2012
Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30
Miguel Munar-Qués , Jorge L Pedrosa , Teresa Coelho , Leonor Gusmao
Journal of Medical Genetics 36 ( 8) 629 -632
34
1999
O bem-estar psicológico em indivíduos de risco para doenças neurológicas hereditárias de aparecimento tardio e controlos
Ângela Leite , Maria Constança Paúl , Jorge Sequeiros ,
Psicologia, Saúde & Doenças 3 ( 2) 113 -118
9
2002
Spinopontine atrophy disputed as a separate entity: The first description of Machado‐Joseph disease
Jorge Sequeiros ,
Neurology 36 ( 10) 1408 -1408
13
1986
Huntington Disease, Huntington Disease-Like Type 2 and Spinocerebellar Ataxia Type 2 in a Case Series from Brazil (P07.214)
Laura Jardim , Aline Souza , Gabriel Furtado , Tailise Gheno
Neurology 80
2013
Clinical Characteristics and Progression Rate of Brazilian and Peruvian Patients with SCA10 (PD2.005)
Laura Jardim , Jonas Saute , Karina Donis , Tailise Gheno
Neurology 80
2013
Direct-to-consumer genetic testing for health-related purposes in the European Union
Volker ter Meulen , Stefania Boccia , Martina Cornel , Marc Delpech
EASAC Policy Report 18
11
2012
Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact.
Susana Lêdo , Ângela Leite , Teresa Souto , Maria Alzira Pimenta Dinis
Psicothema 29 ( 4) 446 -452
2017