Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

Krzyzewska, I M; Alders, M; Maas, S M; Bliek, J; Venema, A; Henneman, P; Rezwan, F I; Lip, K V D; Mul, A N; Mackay, D J G; Mannens, M M A M

Krzyzewska, I M; Alders, M; Maas, S M; Bliek, J; Venema, A; Henneman, P; Rezwan, F I; Lip, K V D; Mul, A N; Mackay, D J G; Mannens, M M A M.

Afiliación

Krzyzewska IM; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Maas SM; Amsterdam UMC, University of Amsterdam, Department of Pediatrics, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Bliek J; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Venema A; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Henneman P; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Rezwan FI; Faculty of Medicine, University of Southampton, Southampton, UK.
Lip KVD; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Mul AN; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Mackay DJG; Faculty of Medicine, University of Southampton, Southampton, UK.
Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction & Development, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. m.a.mannens@amc.uva.nl.

Clin Epigenetics ; 11(1): 53, 2019 03 21.

Article en En | MEDLINE | ID: mdl-30898153

Asunto(s)

Síndrome de Beckwith-Wiedemann/diagnóstico; Metilación de ADN; Secuenciación Completa del Genoma/métodos; Síndrome de Beckwith-Wiedemann/genética; Cromosomas Humanos Par 11/genética; Femenino; Impresión Genómica; Humanos; Masculino; Análisis de Secuencia por Matrices de Oligonucleótidos; Fenotipo

Palabras clave

BWS; DNA-methylation; Imprinting disorders; MLID

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Beckwith-Wiedemann / Metilación de ADN / Secuenciación Completa del Genoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Clin Epigenetics Año: 2019 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Alemania

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