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Page 1
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E. McNeill A, et al. Among authors: fallerini c. Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176. Brain. 2020. PMID: 32658972 Free PMC article.
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M. Artuso R, et al. Among authors: fallerini c. Eur J Hum Genet. 2012 Jan;20(1):50-7. doi: 10.1038/ejhg.2011.164. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897443 Free PMC article.
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Among authors: fallerini c. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Mencarelli MA, et al. Among authors: fallerini c. J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9. J Med Genet. 2015. PMID: 25575550
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. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054
Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.
Baldassarri M, Fallerini C, Cetta F, Ghisalberti M, Bellan C, Furini S, Spiga O, Crispino S, Gotti G, Ariani F, Paladini P, Renieri A, Frullanti E. Baldassarri M, et al. Among authors: fallerini c. Cancer Res Treat. 2018 Apr;50(2):356-365. doi: 10.4143/crt.2017.125. Epub 2017 May 26. Cancer Res Treat. 2018. PMID: 28546520 Free PMC article.
78 results