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406 results

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A Bg/II polymorphism in the COL4A6 gene.
Renieri A, Galli L, Zhou J, Ballabio A, De Marchi M. Renieri A, et al. Among authors: de marchi m. Hum Mol Genet. 1994 Oct;3(10):1914. doi: 10.1093/hmg/3.10.1914-a. Hum Mol Genet. 1994. PMID: 7849730 No abstract available.
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D. Epistolato MC, et al. Among authors: de marchi m, de francesco s. J Hum Genet. 2011 Sep;56(9):685-6. doi: 10.1038/jhg.2011.82. Epub 2011 Aug 4. J Hum Genet. 2011. PMID: 21814224 Free 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: de marchi 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: de marchi m. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.
New approaches to the DNA diagnosis of Alport syndrome.
Renieri A, De Marchi M. Renieri A, et al. Among authors: de marchi m. Contrib Nephrol. 1996;117:183-97. doi: 10.1159/000424814. Contrib Nephrol. 1996. PMID: 8801046 Review. No abstract available.
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: de marchi 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: de marchi m, de palma g. Hum Mutat. 1998;Suppl 1:S106-9. doi: 10.1002/humu.1380110135. Hum Mutat. 1998. PMID: 9452056 No abstract available.
406 results