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Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
Federico A, Dotti MT, Cardaioli E, Grieco G, Malandrini A, Manneschi L, Plewnia K, Rufa A, Renieri A, Bruttini M, Perticoni GF. Federico A, et al. Among authors: bruttini m. J Submicrosc Cytol Pathol. 1998 Oct;30(4):521-6. J Submicrosc Cytol Pathol. 1998. PMID: 9851061
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: bruttini m. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Among authors: bruttini m. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.
Molecular diagnosis of Alport syndrome: the experience in Siena.
Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Renieri A, et al. Among authors: bruttini m. Contrib Nephrol. 1997;122:132-3. doi: 10.1159/000059882. Contrib Nephrol. 1997. PMID: 9399055 No abstract available.
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Neri TM, Zanelli P, De Palma G, Savi M, Rossetti S, Turco AE, Pignatti GF, Galli L, Bruttini M, Renieri A, Mingarelli R, Trivelli A, Pinciaroli AR, Ragaiolo M, Rizzoni GF, De Marchi M. Neri TM, et al. Among authors: bruttini m. Hum Mutat. 1998;Suppl 1:S106-9. doi: 10.1002/humu.1380110135. Hum Mutat. 1998. PMID: 9452056 No abstract available.
93 results