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Collezione AOU Città della Salute di Torino

Items : 11

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;

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;

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. in Journal of medical genetics / J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7.

2023
AOU Città della Salute di Torino

Di Giacomo MC; Cereda A; Capurso M; Piscopo C; Accadia M; Morando C; Della Monica M; Memo L; Novelli C; Garavelli L; Cappuccio G; Onesimo R; Zampino G; Selicorni A; Forleo C; Bukvic N; Susca FC; De Luisi A; Piglionica M; Loconte DC; Turchiano A; Maitz S; Melis D; Bartuli A; Ferrero GB; Bagnulo R; Buonuomo PS; Pantaleo A; Ranieri C; et alii...

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Nov;61(11):689-695. doi: 10.1002/gcc.23086. Epub 2022 Jul 16.

2022
AOU Città della Salute di Torino

Santoro F; Bertin D; Stella A; Vallero SG; Garganese A; Iacoviello M; Ranieri C; Bagnulo R; Pantaleo A; Coppo P; Cardaropoli S; Turchiano A; Mussa A; Carli D; Ferrero GB; Resta N;

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec

2022
AOU Città della Salute di Torino

Carli D; Resta N; Ferrero GB; Ruggieri M; Mussa A;

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7.