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Page 1
Alport syndrome: impact of digenic inheritance in patients management.
Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F. Fallerini C, et al. Among authors: trevisson e. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells.
Pelosi L, Morbiato L, Burgardt A, Tonello F, Bartlett AK, Guerra RM, Ferizhendi KK, Desbats MA, Rascalou B, Marchi M, Vázquez-Fonseca L, Agosto C, Zanotti G, Roger-Margueritat M, Alcázar-Fabra M, García-Corzo L, Sánchez-Cuesta A, Navas P, Brea-Calvo G, Trevisson E, Wendisch VF, Pagliarini DJ, Salviati L, Pierrel F. Pelosi L, et al. Among authors: trevisson e. bioRxiv [Preprint]. 2023 Nov 13:2023.11.13.566839. doi: 10.1101/2023.11.13.566839. bioRxiv. 2023. Update in: Mol Cell. 2024 Mar 7;84(5):981-989.e7. doi: 10.1016/j.molcel.2024.01.003 PMID: 38014142 Free PMC article. Updated. Preprint.
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. Desbats MA, et al. Among authors: trevisson e. Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4. Hum Mol Genet. 2016. PMID: 27493029
Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante M, Diella S, Santangelo L, Trevisson E, Acosta MJ, Amatruda M, Finzi G, Caridi G, Murer L, Accetturo M, Ranieri E, Ghiggeri GM, Giordano M, Grandaliano G, Salviati L, Gesualdo L. Gigante M, et al. Among authors: trevisson e. Clin Genet. 2017 Aug;92(2):224-226. doi: 10.1111/cge.12960. Epub 2017 Mar 22. Clin Genet. 2017. PMID: 28044327 No abstract available.
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.
Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F. Imperatore V, et al. Among authors: trevisson e. Eur J Hum Genet. 2018 Jul;26(7):1026-1037. doi: 10.1038/s41431-017-0054-6. Epub 2018 Apr 17. Eur J Hum Genet. 2018. PMID: 29662154 Free PMC article.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F. Gelli E, et al. Among authors: trevisson e. Cancers (Basel). 2019 Mar 1;11(3):295. doi: 10.3390/cancers11030295. Cancers (Basel). 2019. PMID: 30832263 Free PMC article.
97 results