RE-BVS – Piemonte Repository

Sfoglia per AUTORE
FALETRA F
Collezione AOU Città della Salute di Torino

Items : 3

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;

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? in Molecular genetics & genomic medicine / Mol Genet Genomic Med. 2019 May;7(5):e639. doi: 10.1002/mgg3.639. Epub 2019 Mar 28.

2019
AOU Città della Salute di Torino

Bottega R; Napolitano LMR; Carbone A; Cappelli E; Corsolini F; Onesti S; Savoia A; Gasparini P; Faletra F;

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...