Publications:

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Valente, Federica Maria FM; Sparago, Angela A; Freschi, Andrea A; Hill-Harfe, Katherine K; Maas, Saskia M SM; Frints, Suzanna Gerarda Maria SGM; Alders, Marielle M; Pignata, Laura L; Franzese, Monica M; Angelini, Claudia C; Carli, Diana D; Mussa, Alessandro A; Gazzin, Andrea A; Gabbarini, Fulvio F; Acurzio, Basilia B; Ferrero, Giovanni Battista GB; Bliek, Jet J; Williams, Charles A CA; Riccio, Andrea A; Cerrato, Flavia F

Publication Date: 2019-08

Variant appearance in text: rs2023818

PubMed Link: 30635621

Variant Present in the following documents:

• Main text
• 41436_2018_Article_416.pdf

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Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

European Journal Of Human Genetics : Ejhg

Alders, Marielle M; Bliek, Jet J; vd Lip, Karin K; vd Bogaard, Ruud R; Mannens, Marcel M

Publication Date: 2009-04

Variant appearance in text: rs2023818

PubMed Link: 18854861

Variant Present in the following documents:

• Main text

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