RE-BVS – Piemonte Repository

Sfoglia per AUTORE
TRAJKOVA S
Collezione AOU San Luigi di Orbassano

Items : 4

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.

2024
AOU Città della Salute di Torino
AOU San Luigi di Orbassano

Garavelli L; Sadikovic B; Tartaglia M; Ferrero GB; McConkey H; Pullano V; Zollino M; Pavinato L; Sukarova E; Brusco A; Baldo C; Mandrile G; Lauzon C; Cordelli DM; Ivanovski I; Fetta A; Haghshenas S; Levy MA; Relator R; Zuntini R; Caraffi SG; van der Laan L; Rooney K; Trajkova S;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.

2024
AOU Città della Salute di Torino
AOU San Luigi di Orbassano

Sadikovic B; Brusco A; Ferrero GB; Banka S; Mussa A; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rzasa J; Rooney K; Pippucci T; Dimartino P; Giorgio E; Di Gregorio E; Marinoni R; Mandrile G; Palermo F; Carestiato S; Cardaropoli S; Carli D; Rinninella A; Pavinato L; Ferrero E; Giovenino C; Rossi Sebastiano M; et alii...

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.

2023
AOU Città della Salute di Torino
AOU San Luigi di Orbassano

Pasini B; De Rubeis S; Buxbaum JD; Ferrero GB; Brusco A; Delledonne M; Pippucci T; Tartaglia M; Rossato M; Mandrile G; Froukh T; Bruselles A; Dimartino P; Mussa A; Carli D; Palermo F; Fadda A; Bertoli L; Pavinato L; Cardaropoli S; Pullano V; Ferrero E; Sukarova-Angelovska E; Carestiato S; Trajkova S; Battaglia A; Rinninella A; Salmin P; Giovenino C; et alii...

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. in American journal of human genetics / Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30.

2023
AOU San Luigi di Orbassano

Skraban C; Shukarova-Angelovska E; Scheuerle AE; Sellars EA; Reymond A; Schwager CR; Redon S; Rauch A; Rahimi-Aliabadi S; Quélin C; Pugh J; Pullano V; Prijoles EJ; Osmond M; Noyes AG; Nowak CB; Niceta M; Noskova L; Newberry KM; Natowicz M; Napier MP; Montgomery S; Meeks NJL; Medne L; Meadows SK; McEown M; Mattioli F; Mandrile G; Magner M; et alii...