Renieri A - Search Results

1

The 2019 and 2021 International Workshops on Alport Syndrome.

Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: renieri a. Eur J Hum Genet. 2022 May;30(5):507-516. doi: 10.1038/s41431-022-01075-0. Epub 2022 Mar 9. Eur J Hum Genet. 2022. PMID: 35260866 Free PMC article.

2

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. Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127. Hum Mol Genet. 1992. PMID: 1363780

3

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. Hum Genet. 1992 Apr;89(1):120-1. doi: 10.1007/BF00207059. Hum Genet. 1992. PMID: 1577459

4

De-novo COL4A5 gene mutations in Alport's syndrome.

Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M. Massella L, et al. Among authors: renieri a. Nephrol Dial Transplant. 1994;9(10):1408-11. Nephrol Dial Transplant. 1994. PMID: 7816253

5

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.

Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M, Battini G, Meroni M, Sessa A, Schiavano S, Pignatti PF, et al. Peissel B, et al. Among authors: renieri a. Hum Mutat. 1994;3(4):386-90. doi: 10.1002/humu.1380030410. Hum Mutat. 1994. PMID: 8081393 No abstract available.

6

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. 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.

7

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Renieri A, Seri M, Galli L, Cosci P, Imbasciati E, Massella L, Rizzoni G, Restagno G, Carbonara AO, Stramignoni E, et al. Renieri A, et al. Hum Genet. 1993 Oct;92(4):417-20. doi: 10.1007/BF01247348. Hum Genet. 1993. PMID: 8225325

8

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. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366

9

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. Am J Hum Genet. 1996 Jun;58(6):1192-204. Am J Hum Genet. 1996. PMID: 8651296 Free PMC article.

10

New approaches to the DNA diagnosis of Alport syndrome.

Renieri A, De Marchi M. Renieri A, et al. Contrib Nephrol. 1996;117:183-97. doi: 10.1159/000424814. Contrib Nephrol. 1996. PMID: 8801046 Review. No abstract available.

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