Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.

Chen, Mei-Jou; Wei, Shin-Yi; Yang, Wei-Shiung; Wu, Tsai-Tzu; Li, Huei-Ying; Ho, Hong-Nerng; Yang, Yu-Shih; Chen, Pei-Lung

Chen, Mei-Jou; Wei, Shin-Yi; Yang, Wei-Shiung; Wu, Tsai-Tzu; Li, Huei-Ying; Ho, Hong-Nerng; Yang, Yu-Shih; Chen, Pei-Lung.

Afiliação

Chen MJ; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Wei SY; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Yang WS; Department of Internal Medicine, National Taiwan University Hospital, Taipei 100, Taiwan Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipe
Wu TT; Graduate Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan.
Li HY; Department of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan.
Ho HN; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Yang YS; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Chen PL; Department of Internal Medicine, National Taiwan University Hospital, Taipei 100, Taiwan Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipe

Hum Reprod ; 30(7): 1732-42, 2015 Jul.

Article em En | MEDLINE | ID: mdl-25924657

Assuntos

Transtornos 46, XX do Desenvolvimento Sexual/genética; Anormalidades Congênitas/genética; Exoma/genética; Ductos Paramesonéfricos/anormalidades; Análise de Sequência com Séries de Oligonucleotídeos/métodos; Polimorfismo de Nucleotídeo Único/genética; Análise de Sequência de DNA/métodos; Adulto; Feminino; Deleção de Genes; Humanos

Palavras-chave

MayerRokitanskyKüsterHauser syndrome; Müllerian aplasia; next-generation sequencing; single nucleotide polymorphism array; whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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