Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis.

Rajan-Babu, Indhu-Shree; Lian, Mulias; Tran, Anh H; Dang, Truong T; Le, Huong T-M; Thanh, Minh N; Lee, Caroline G; Chong, Samuel S

Rajan-Babu, Indhu-Shree; Lian, Mulias; Tran, Anh H; Dang, Truong T; Le, Huong T-M; Thanh, Minh N; Lee, Caroline G; Chong, Samuel S.

Afiliación

Rajan-Babu IS; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Lian M; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.
Tran AH; Department of Physiology, Vietnam Military Medical University, Hanoi, Vietnam.
Dang TT; Department of Anatomy, Vietnam Military Medical University, Hanoi, Vietnam; Department of Genetics and Cytogenetics, Vietnam Military Medical University, Hanoi, Vietnam.
Le HT; National Hospital of Pediatrics, Hanoi, Vietnam.
Thanh MN; National Hospital of Pediatrics, Hanoi, Vietnam.
Lee CG; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Division of Medical Sciences, National Cancer Center, Singapore, Singapore; Cancer and Stem Cell Biology Program, Duke-NUS Graduate Medical School, Singapore, Singapore.
Chong SS; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore; Department of Laboratory Medicine, National University Hospital

J Mol Diagn ; 18(5): 719-730, 2016 09.

Article en En | MEDLINE | ID: mdl-27375073

Asunto(s)

Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética; Síndrome del Cromosoma X Frágil/diagnóstico; Síndrome del Cromosoma X Frágil/genética; Reacción en Cadena de la Polimerasa Multiplex/métodos; Expansión de Repetición de Trinucleótido; Línea Celular; Femenino; Pruebas Genéticas/métodos; Humanos; Masculino; Reacción en Cadena en Tiempo Real de la Polimerasa/métodos; Sensibilidad y Especificidad; Repeticiones de Trinucleótidos

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Expansión de Repetición de Trinucleótido / Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil / Reacción en Cadena de la Polimerasa Multiplex / Síndrome del Cromosoma X Frágil Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male Idioma: En Revista: J Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2016 Tipo del documento: Article País de afiliación: Singapur

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