Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

Zhu, W D; Wang, Z Y; Chai, Y C; Wang, X W; Chen, D Y; Wu, H

Zhu, W D; Wang, Z Y; Chai, Y C; Wang, X W; Chen, D Y; Wu, H.

Afiliação

Zhu WD; Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China.
Wang ZY; Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China.
Chai YC; Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China.
Wang XW; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China.
Chen DY; Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China. E
Wu H; Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University, Shanghai, China; Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China. E

Eur J Med Genet ; 58(9): 433-8, 2015 Sep.

Article em En | MEDLINE | ID: mdl-26096992

Assuntos

Estudos de Associação Genética; Mutação em Linhagem Germinativa; Neoplasias de Cabeça e Pescoço/genética; Paraganglioma/genética; Adulto; Idoso; Sequência de Aminoácidos; Povo Asiático/genética; China; Feminino; Seguimentos; Testes Genéticos; Neoplasias de Cabeça e Pescoço/diagnóstico; Heterozigoto; Humanos; Masculino; Pessoa de Meia-Idade; Dados de Sequência Molecular; Mutação de Sentido Incorreto; Paraganglioma/diagnóstico; Succinato Desidrogenase/genética; Succinato Desidrogenase/metabolismo

Palavras-chave

Genetic analysis; Germline mutation; Head and neck paraganglioma (HNPGL); Multiplex ligation-dependent probe amplification (MLPA); SDHAF2; SDHB; SDHD

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraganglioma / Mutação em Linhagem Germinativa / Estudos de Associação Genética / Neoplasias de Cabeça e Pescoço Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google