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Sfoglia per AUTORE
BLIEK J
Collezione AOU Città della Salute di Torino

Items : 3

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.

2019
AOU Città della Salute di Torino

Williams CA; Ferrero GB; Bliek J; Acurzio B; Gabbarini F; Gazzin A; Mussa A; Angelini C; Carli D; Franzese M; Pignata L; Alders M; Frints SGM; Maas SM; Hill-Harfe K; Freschi A; Sparago A; Valente FM; Riccio A; Cerrato F;

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. in Nature reviews. Endocrinology / Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.

2018
AOU Città della Salute di Torino

Brioude F; Kalish JM; Mussa A; Foster AC; Bliek J; Ferrero GB; Boonen SE; Cole T; Baker R; Bertoletti M; Cocchi G; Coze C; De Pellegrin M; Hussain K; Ibrahim A; Kilby MD; Krajewska-Walasek M; Kratz CP; Ladusans EJ; Lapunzina P; Le Bouc Y; Maas SM; Macdonald F; Õunap K; Peruzzi L; Rossignol S; Russo S; Shipster C; Skórka A; et alii...

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15.

2018
AOU Città della Salute di Torino

Brioude F; Hennekam R; Bliek J; Coze C; Eggermann T; Ferrero GB; Kratz C; Bouc YL; Maas SM; Mackay DJG; Maher ER; Mussa A; Netchine I;