RE-BVS – Piemonte Repository

Sfoglia per AUTORE
GRAZIANO C
Collezione AOU Città della Salute di Torino

Items : 8

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. in American journal of human genetics / Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003. Epub 2024 Dec 19.

2025
ASL Città di Torino
AOU Città della Salute di Torino

Scherer SW; Simone L; Zara F; Russell BE; Nelson SF; Graziano C; Schwab M; Corona RI; Mullegama SV; Douine ED; Helbig I; McDonnell PP; Lusk L; Pedro HF; Parisotto S; Keller R; Pullano V; Brusco A; Granger L; Anadiotis G; Charlebois J; Elsabbagh M; MacDonald JR; Ko SY; Frankland PW; Anagnostou E; Reuter MS; Mendes M; Trost B; et alii...

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum. in Cancers / Cancers (Basel). 2024 Nov 26;16(23):3967. doi: 10.3390/cancers16233967.

2024
AOU Città della Salute di Torino

Carli D; Rondot F; Luca M; Campello A; Vallero SG; Tirtei E; Gazzin A; Cardaropoli S; Montanari F; Graziano C; Quarello P; Saadat A; Sparago A; Ferrero GB; Fagioli F; Mussa A;

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3.

2022
AOU Città della Salute di Torino

Carli D; Grosso E; Soli F; Madeo S; Rocchetti LM; Bigoni S; Graziano C; Sangiorgi L; Ponti G; Garavelli L; Boschi E; Caleffi E; Martorana D; Uliana V; Riva M; Goldoni M; Pisani F; Percesepe A;

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9.

2021
AOU Città della Salute di Torino

Romano C; Ferrero GB; Galesi O; Giorgio E; Magini P; Carli D; Greco D; Innella G; Brusco A; Graziano C;

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;

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...

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. in Frontiers in neurology / Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

2018
AOU Città della Salute di Torino

Pons MR; Pochiero F; Pini A; Petrucci A; Perna A; Pegoraro E; Musumeci O; Milone R; Mignarri A; Melone MAB; Massacesi L; Mari F; Marcotulli C; Mandich P; Malandrini A; Marques Louren?o C; Lieto M; Kariminejad A; Gurrieri F; Graziano C; Guerrini R; Gigli GL; Gemignani F; Gallone S; Fini N; Fiorillo C; Felicori M; Di Iorio G; Donadio V; et alii...

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. in International journal of molecular sciences / Int J Mol Sci. 2017 Sep 29;18(10):2071. doi: 10.3390/ijms18102071.

2017
AOU Città della Salute di Torino

Bonatti F; Adorni A; Matichecchia A; Mozzoni P; Uliana V; Pisani F; Garavelli L; Graziano C; Gnoli M; Carli D; Bigoni S; Boschi E; Martorana D; Percesepe A;