Sfoglia per AUTORE
MAAS SM
Collezione AOU Città della Salute di Torino

  

Items : 5

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. in HGG advances / HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Barakat TS; Alders M; van der Smagt JJ; José van den Boogaard M; Trajkova S; van Bever Y; Polstra AM; Pfundt R; Nordgren A; Närhi A; Mignot C; Mussa A; Mizuguchi T; Matsumoto N; Marcelis C; Mancini GMS; Maas SM; Lock-Hock N; Levy MA; Kroes HY; Keren B; Kato M; Kira R; Kant SG; Hopman S; Hochstenbach R; Herkert JC; Engelen M; Vega AD; et alii...

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. in Human genetics / Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24.
2024
AOU Città della Salute di Torino

Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; et alii...

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;