Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

Mul, Karlien; Voermans, Nicol C; Lemmers, Richard J L F; Jonker, Marianne A; van der Vliet, Patrick J; Padberg, George W; van Engelen, Baziel G M; van der Maarel, Silvère M; Horlings, Corinne G C

Mul, Karlien; Voermans, Nicol C; Lemmers, Richard J L F; Jonker, Marianne A; van der Vliet, Patrick J; Padberg, George W; van Engelen, Baziel G M; van der Maarel, Silvère M; Horlings, Corinne G C.

Afiliação

Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jonker MA; Department of Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Padberg GW; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horlings CGC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Clin Genet ; 94(6): 521-527, 2018 12.

Article em En | MEDLINE | ID: mdl-30211448

Assuntos

Estudos de Associação Genética; Predisposição Genética para Doença; Genótipo; Distrofia Muscular Facioescapuloumeral/diagnóstico; Distrofia Muscular Facioescapuloumeral/genética; Fenótipo; Adolescente; Adulto; Idoso; Idoso de 80 Anos ou mais; Alelos; Biomarcadores; Feminino; Estudos de Associação Genética/métodos; Haplótipos; Humanos; Imageamento por Ressonância Magnética/métodos; Masculino; Pessoa de Meia-Idade; Penetrância; Índice de Gravidade de Doença; Adulto Jovem

Palavras-chave

disease modifiers; epigenetics; facioscapulohumeral muscular dystrophy (FSHD); genotype; phenotype

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Distrofia Muscular Facioescapuloumeral / Estudos de Associação Genética / Genótipo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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