De Marchi M - Search Results

1

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M. Renieri A, et al. Among authors: de marchi m. Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127. Hum Mol Genet. 1992. PMID: 1363780

2

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Renieri A, et al. Among authors: de marchi m. Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304. Hum Mutat. 1994. PMID: 7833948

3

Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.

Renieri A, Meroni M, Sessa A, Battini G, Serbelloni P, Torri Tarelli L, Seri M, Galli L, De Marchi M. Renieri A, et al. Among authors: de marchi m. Nephron. 1994;67(4):444-9. doi: 10.1159/000188020. Nephron. 1994. PMID: 7969679

4

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.

Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P, et al. Renieri A, et al. Among authors: de marchi m. Hum Mol Genet. 1994 Jan;3(1):201-2. doi: 10.1093/hmg/3.1.201. Hum Mol Genet. 1994. PMID: 8162029 No abstract available.

5

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

6

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.

7

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.

8

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.

Turco AE, Rossetti S, Biasi MO, Rizzoni G, Massella L, Saarinen NH, Renieri A, Pignatti PF, De Marchi M. Turco AE, et al. Among authors: de marchi m. Clin Genet. 1995 Nov;48(5):261-3. doi: 10.1111/j.1399-0004.1995.tb04101.x. Clin Genet. 1995. PMID: 8825605

9

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.

10

Alport syndrome caused by a 5' deletion within the COL4A5 gene.

Renieri A, Seri M, Myers JC, Pihlajaniemi T, Sessa A, Rizzoni G, De Marchi M. Renieri A, et al. Among authors: de marchi m. Hum Genet. 1992 Apr;89(1):120-1. doi: 10.1007/BF00207059. Hum Genet. 1992. PMID: 1577459

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