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Collezione AOU Città della Salute di Torino

  

Items : 9

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth. in Journal of medical genetics / J Med Genet. 2025 Mar 20;62(4):276-280. doi: 10.1136/jmg-2024-110364.
2025
AOU Città della Salute di Torino

Gazzin A; Reynolds G; Massuras S; Luca M; Coppo P; Carli D; Piglionica M; Martino S; Bagnulo R; Ferrero GB; Resta N; Mussa A;

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition. in Clinical genetics / Clin Genet. 2025 Feb 2. doi: 10.1111/cge.14713.
2025
AOU Città della Salute di Torino

Gazzin A; Reynolds G; Allegro D; Rossi D; Sciandra F; Afkhami HA; Cardaropoli S; Piglionica M; Resta N; Di Stefano M; Mussa A;

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;

Intestinal ultrasonography in pediatric population. in Minerva pediatrics / Minerva Pediatr (Torino). 2024 Feb;76(1):100-107. doi: 10.23736/S2724-5276.21.06371-0. Epub 2021 Apr
2024
AOU Città della Salute di Torino

Rigazio C; Calvo P; Pinon M; Cisarò F; Gazzin A; Opramolla A;

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26.
2023
AOU Città della Salute di Torino

Ranieri C; Resta N; Turchiano A; Bagnulo R; Piglionica M; La Selva R; Coppo P; Luca M; Gazzin A; Carli D; Cardaropoli S; Reynolds G; Mussa A;

Mulibrey nanism and immunological complications: a comprehensive case report and literature review. in Frontiers in immunology / Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023.
2023
AOU Città della Salute di Torino

Licciardi F; Montin D; Rosenzweig SD; Delmonte OM; Ferroni F; Carli D; Quarello P; Biasin E; Stoddard J; Niemela J; Bosticardo M; Pala F; Gazzin A; Notarangelo LD;

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome. in American journal of medical genetics. Part A / Am J Med Genet A. 2020 Dec;182(12):3052-3055. doi: 10.1002/ajmg.a.61900. Epub 2020 Oct 14.
2020
AOU Città della Salute di Torino

Ferrero GB; Mussa A; Bongioanni MR; Bergui M; Gazzin A; Carli D;

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. in Human mutation / Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.
2019
AOU Città della Salute di Torino

Carli D; Giorgio E; Pantaleoni F; Bruselles A; Barresi S; Riberi E; Licciardi F; Gazzin A; Baldassarre G; Pizzi S; Niceta M; Radio FC; Molinatto C; Montin D; Calvo PL; Ciolfi A; Fleischer N; Ferrero GB; Brusco A; Tartaglia M;

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.
2019
AOU Città della Salute di Torino

Williams CA; Ferrero GB; Bliek J; Acurzio B; Gabbarini F; Gazzin A; Mussa A; Angelini C; Carli D; Franzese M; Pignata L; Alders M; Frints SGM; Maas SM; Hill-Harfe K; Freschi A; Sparago A; Valente FM; Riccio A; Cerrato F;