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435 results

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Page 1
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM. Daga S, et al. Among authors: renieri a. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01706-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424670
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM. Daga S, et al. Among authors: renieri a. Eur J Hum Genet. 2020 Apr;28(4):480-490. doi: 10.1038/s41431-019-0537-8. Epub 2019 Nov 21. Eur J Hum Genet. 2020. PMID: 31754267 Free PMC article.
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM. Daga S, et al. Among authors: renieri a. Eur J Hum Genet. 2024 Jan;32(1):131. doi: 10.1038/s41431-023-01287-y. Eur J Hum Genet. 2024. PMID: 36653516 Free PMC article. No abstract available.
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: renieri a. 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. Among authors: renieri a. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
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: renieri a. Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27859054
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: renieri a. 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.
Non-collagen genes role in digenic Alport syndrome.
Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. Among authors: renieri a. BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5. BMC Nephrol. 2019. PMID: 30808327 Free PMC article.
435 results