RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
CLINICAL GENETICS
Collezione AOU Città della Salute di Torino

Items : 8

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;

A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. in Clinical genetics / Clin Genet. 2024 Apr;105(4):430-433. doi: 10.1111/cge.14472. Epub 2023 Dec 13.

2024
AOU Città della Salute di Torino

Gallone S; Calvo A; Moglia C; Vasta R; Manera U; Di Pede F; Cabras S; Canosa A; Chiò A;

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;

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;

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. in Clinical genetics / Clin Genet. 2017 Oct;92(4):380-387. doi: 10.1111/cge.12979. Epub 2017 Mar 7.

2017
AOU Città della Salute di Torino

van den Boogaard ML; Thijssen PE; Aytekin C; Licciardi F; K?yk?m AA; Spossito L; Dalm VASH; Driessen GJ; Kersseboom R; de Vries F; van Ostaijen-Ten Dam MM; Ikinciogullari A; Dogu F; Oleastro M; Bailardo E; Daxinger L; Nain E; Baris S; van Tol MJD; Weemaes C; van der Maarel SM; van den Boogaard ML; Thijssen PE; Aytekin C; Licciardi F; K?yk?m AA; Spossito L; Dalm VASH; Driessen GJ; et alii...

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. in Clinical genetics / Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...