RE-BVS – Piemonte Repository

Sfoglia per AUTORE
MERLA G
Collezione AOU Città della Salute di Torino

Items : 3

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.

2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

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...

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. in Frontiers in genetics / Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020.

2020
AOU Città della Salute di Torino

Neri M; Rossi R; Trabanelli C; Mauro A; Selvatici R; Falzarano MS; Spedicato N; Margutti A; Rimessi P; Fortunato F; Fabris M; Gualandi F; Comi G; Tedeschi S; Seia M; Fiorillo C; Traverso M; Bruno C; Giardina E; Piemontese MR; Merla G; Cau M; Marica M; Scuderi C; Borgione E; Tessa A; Astrea G; Santorelli FM; Merlini L; et alii...