RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
FRONTIERS IN GENETICS
Collezione AOU Città della Salute di Torino

Items : 7

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event. in Frontiers in genetics / Front Genet. 2023 Sep 18;14:1240758. doi: 10.3389/fgene.2023.1240758. eCollection 2023.

2023
AOU Città della Salute di Torino

Pasini B; Savoia A; Faleschini M; Pelle A; Fiscarelli I; Persico I; Bottega R;

Editorial: Improving medical diagnosis in rare diseases. in Frontiers in genetics / Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022.

2022
AOU Città della Salute di Torino

Brusco A; Linhares ND; Gorman KM;

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders. in Frontiers in genetics / Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022.

2022
AOU Alessandria
AOU Città della Salute di Torino

Viri M; Dianzani U; Rabbone I; Vercellino F; Zonta A; Rasmini P; Pelle A; Mandrile G; Sirchia F; Spano A; Peruzzi C; Papa A; Maruzzi A; Favini S; Ronzani S; Vurchio D; Puricelli C; Mellone S; Giordano M;

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families. in Frontiers in genetics / Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020.

2020
AOU Città della Salute di Torino

Pasini A; Mencarelli F; Cantone R; Mancini E; Grosso E; Faletra F; Pariali M; De Fanti S; Mattiaccio A; Ambrosini E; Cristalli CP; Aiello V; Minardi R; Capelli I; Graziano C; Bin S; Mantovani V; Wischmeijer A; Sciascia N; Seri M; La Manna G;

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...

Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN). in Frontiers in genetics / Front Genet. 2019 Nov 15;10:1084. doi: 10.3389/fgene.2019.01084. eCollection 2019.

2019
AOU Città della Salute di Torino

Kiryluk K; Lee S; van Gelder T; Amoroso A; Callans L; Deaglio S; Wang C; Zanoni F; van Setten J; Mohebnasab M; Fishman CE; Lanktree MB; Keating BJ;

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. in Frontiers in genetics / Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018.

2018
AOU Città della Salute di Torino

Sensi A; Sirchia F; Grosso E; Faletra F; Gajendrarao P; La Bianca M; Brumat M; Ambrosetti U; Ghiselli S; Orzan E; Morgutti M; Pecile V; Cappellani S; Lenarduzzi S; Morgan A; Graziano C; Seri M; Gasparini P; Girotto G; Morgan A; Lenarduzzi S; Cappellani S; Pecile V; Morgutti M; Orzan E; Ghiselli S; Ambrosetti U; Brumat M; Gajendrarao P; et alii...