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Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A. Savoia A, et al. Among authors: giani m. Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19. Thromb Haemost. 2010. PMID: 20174760
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: giani m. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
Vestibular and audiological findings in the Alport syndrome.
Barozzi S, Soi D, Intieri E, Giani M, Aldè M, Tonon E, Signorini L, Renieri A, Fallerini C, Perin P, Montini G, Ambrosetti U. Barozzi S, et al. Among authors: giani m. Am J Med Genet A. 2020 Oct;182(10):2345-2358. doi: 10.1002/ajmg.a.61796. Epub 2020 Aug 20. Am J Med Genet A. 2020. PMID: 32820599
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.
Mastrangelo A, Giani M, Groppali E, Castorina P, Soldà G, Robusto M, Fallerini C, Bruttini M, Renieri A, Montini G. Mastrangelo A, et al. Among authors: giani m. Front Med (Lausanne). 2020 Nov 23;7:580376. doi: 10.3389/fmed.2020.580376. eCollection 2020. Front Med (Lausanne). 2020. PMID: 33330536 Free PMC article.
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: giani m. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366
265 results