Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Singh, Jaya; Mishra, Avshesh; Pandian, Arunachalam Jayamuruga; Mallipatna, Ashwin C; Khetan, Vikas; Sripriya, S; Kapoor, Suman; Agarwal, Smita; Sankaran, Satish; Katragadda, Shanmukh; Veeramachaneni, Vamsi; Hariharan, Ramesh; Subramanian, Kalyanasundaram; Mannan, Ashraf U

Singh, Jaya; Mishra, Avshesh; Pandian, Arunachalam Jayamuruga; Mallipatna, Ashwin C; Khetan, Vikas; Sripriya, S; Kapoor, Suman; Agarwal, Smita; Sankaran, Satish; Katragadda, Shanmukh; Veeramachaneni, Vamsi; Hariharan, Ramesh; Subramanian, Kalyanasundaram; Mannan, Ashraf U.

Afiliación

Singh J; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Mishra A; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Pandian AJ; Sankara Nethralaya ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Mallipatna AC; Department of Pediatric Ophthalmology and Strabismology, Narayana Nethralaya, Bangalore, India.
Khetan V; Department of Vitreo Retina, Sankara Nethralaya, Chennai, India.
Sripriya S; Sankara Nethralaya ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Kapoor S; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Agarwal S; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Sankaran S; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Katragadda S; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Veeramachaneni V; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Hariharan R; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India; Department of Computer Science and Automation, Indian Institute of Science, Bangalore, India.
Subramanian K; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.
Mannan AU; Strand Center for Genomics and Personalized Medicine, Strand Life Sciences, Bangalore, India.

Mol Vis ; 22: 1036-47, 2016.

Article en En | MEDLINE | ID: mdl-27582626

Asunto(s)

Secuenciación de Nucleótidos de Alto Rendimiento; Mutación; Neoplasias de la Retina/genética; Proteínas de Unión a Retinoblastoma/genética; Retinoblastoma/genética; Ubiquitina-Proteína Ligasas/genética; Adulto; Pueblo Asiatico/genética; Niño; Preescolar; Codón sin Sentido; Estudios de Cohortes; Análisis Mutacional de ADN; Exones/genética; Femenino; Genes de Retinoblastoma; Pruebas Genéticas/métodos; Mutación de Línea Germinal; Humanos; India; Lactante; Masculino; Persona de Mediana Edad; Reacción en Cadena de la Polimerasa; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinoblastoma / Neoplasias de la Retina / Ubiquitina-Proteína Ligasas / Proteínas de Unión a Retinoblastoma / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: India

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