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Collezione AOU Città della Salute di Torino

  

Items : 20

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

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;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1.
2023
AOU Città della Salute di Torino

Smedley D; Buxbaum JD; De Rubeis S; Tartaglia M; Cardaropoli S; Bruselles A; Kaiyrzhanov R; Chand P; Efthymiou S; Sisodiya SM; Vestito L; Kelley WV; Hiatt SM; Spada M; Biamino E; Marcantoni A; Di Luca M; Costa A; Cipriani V; Eberini I; Palazzolo L; Chiantia G; Gurgone A; Barzasi M; Stanic J; Pavinato L; Ferrero GB; Giustetto M; Gardoni F; et alii...

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;

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. in Nature genetics / Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18.
2022
AOU Città della Salute di Torino

Fu JM; Satterstrom FK; Peng M; Brand H; Collins RL; Dong S; Wamsley B; Klei L; Wang L; Hao SP; Stevens CR; Cusick C; Babadi M; Banks E; Collins B; Dodge S; Gabriel SB; Gauthier L; Lee SK; Liang L; Ljungdahl A; Mahjani B; Sloofman L; Smirnov AN; Barbosa M; Betancur C; Brusco A; Chung BHY; Cook EH; et alii...

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques. in Clinical genetics / Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21.
2022
AOU Città della Salute di Torino

Bartuli A; Cardaropoli S; Tannorella P; Pignata L; Sparago A; Cerrato F; Macchiaiolo M; Tarani L; Sirchia F; Sara O; Uliana V; Spina J; Falco M; Prada E; Melis D; Leoni C; Milani D; Cocchi G; Operti M; Russo S; Carli D; Riccio A; Ferrero GB; Mussa A;

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;

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19.
2022
AOU Città della Salute di Torino

Medico E; Brusco A; Ramenghi U; Palumbo M; Pullano V; Lepri FR; Cesario C; La Selva R; Coppo P; Tessaris D; Cardaropoli S; Carli D; De Sanctis L; Ferrero GB; Mussa A;

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum. in Clinical genetics / Clin Genet. 2021 Nov;100(5):624-627. doi: 10.1111/cge.14047. Epub 2021 Aug 23.
2021
AOU Città della Salute di Torino

Resta N; Ferrero GB; Fagioli F; Cardaropoli S; Ranieri C; Santoro F; La Selva R; Francia di Celle P; Coppo P; Manicone R; Kalantari S; Carli D; Mussa A;

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. in Clinical genetics / Clin Genet. 2021 May;99(5):719-723. doi: 10.1111/cge.13931. Epub 2021 Feb 8.
2021
AOU Città della Salute di Torino

Resta N; Iacoviello M; Ranieri C; Cardaropoli S; Zinali F; La Selva R; Coppo P; Fusillo A; Ferrero GB; Carli D; Mussa A;

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth. in The Journal of pediatrics / J Pediatr. 2021 Jul;234:123-127. doi: 10.1016/j.jpeds.2021.01.020. Epub 2021 Jan 16.
2021
AOU Città della Salute di Torino

Mussa A; Ferrero GB; Andreacchio A; Resta N; Marcucci L; Cardaropoli S; Cravino M; Spolaore S; Zinali F; Paonessa M; Carli D; De Pellegrin M; Franceschi L;

Role of the Macrophage Migration Inhibitory Factor in the Pathophysiology of Pre-Eclampsia. in International journal of molecular sciences / Int J Mol Sci. 2021 Feb 12;22(4):1823. doi: 10.3390/ijms22041823.
2021
AOU Città della Salute di Torino

Todros T; Paulesu L; Cardaropoli S; Rolfo A; Masturzo B; Ermini L; Romagnoli R; Ietta F;

Lateralized and Segmental Overgrowth in Children. in Cancers / Cancers (Basel). 2021 Dec 7;13(24):6166. doi: 10.3390/cancers13246166.
2021
AOU Città della Salute di Torino

Mussa A; Carli D; Cardaropoli S; Ferrero GB; Resta N;

2021
AOU Città della Salute di Torino

Mussa A; Carli D; Giorgio E; Villar AM; Cardaropoli S; Carbonara C; Campagnoli MF; Galletto P; Palumbo M; Olivieri S; Isella C; Andelfinger G; Tartaglia M; Botta G; Brusco A; Medico E; Ferrero GB;

Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome. in Thrombosis research / Thromb Res. 2020 Dec;196:167-174. doi: 10.1016/j.thromres.2020.08.038. Epub 2020 Aug 27.
2020
AOU Città della Salute di Torino

Cugno M; Marchese C; Roccatello D; Montaruli B; Stella S; Cardaropoli S; Ardissino G; Tedeschi S; Bazzan M; Todros T;

Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele. in Journal of assisted reproduction and genetics / J Assist Reprod Genet. 2018 Oct;35(10):1925-1926. doi: 10.1007/s10815-018-1288-0. Epub 2018 Aug 8.
2018
AOU Città della Salute di Torino

Mussa A; Carli D; Cardaropoli S; Molinatto C; Ferrero GB; Mussa A; Carli D; Cardaropoli S; Molinatto C; Ferrero GB;

Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple Sclerosis. in Frontiers in immunology / Front Immunol. 2019 Jan 8;9:3075. doi: 10.3389/fimmu.2018.03075. eCollection 2018.
2018
AOU Città della Salute di Torino

Cordero F; Brescia Morra V; Lanzillo R; Marsili A; Puorro G; Cordioli C; Turrini MV; Todros T; Cardaropoli S; D'Antuono L; Novelli F; De Mercanti S; Inaudi I; Bardina V; Ferrero G; Maglione A; Rolla S; Iannello A; De Bortoli M; Durelli L; Visconti A; Cutrupi S; Clerico M;