Renieri A - Search Results

1

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease.

Squillaro T, Cambi F, Ciacci G, Rossi S, Ulivelli M, Malandrini A, Mencarelli MA, Mari F, Renieri A, Ariani F. Squillaro T, et al. Among authors: renieri a. J Hum Genet. 2007;52(3):201-204. doi: 10.1007/s10038-006-0105-2. Epub 2007 Jan 18. J Hum Genet. 2007. PMID: 17235449

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

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

5

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.

6

CAG repeat expansion in an italian family with spinocerebellar ataxia type 2 (SCA2): a clinical and genetic study.

Malandrini A, Galli L, Villanova M, Palmeri S, Parrotta E, DeFalco D, Cappelli M, Grieco GS, Renieri A, Guazzi G. Malandrini A, et al. Among authors: renieri a. Eur Neurol. 1998 Oct;40(3):164-8. doi: 10.1159/000007974. Eur Neurol. 1998. PMID: 9748675

7

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: renieri a. J Submicrosc Cytol Pathol. 1998 Oct;30(4):521-6. J Submicrosc Cytol Pathol. 1998. PMID: 9851061

8

Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy.

Vitelli F, Villanova M, Malandrini A, Bruttini M, Piccini M, Merlini L, Guazzi G, Renieri A. Vitelli F, et al. Among authors: renieri a. Muscle Nerve. 1999 Oct;22(10):1437-41. doi: 10.1002/(sici)1097-4598(199910)22:10<1437::aid-mus15>3.0.co;2-7. Muscle Nerve. 1999. PMID: 10487912

9

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. Meloni I, et al. Among authors: renieri a. Am J Hum Genet. 2000 Oct;67(4):982-5. doi: 10.1086/303078. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986043 Free PMC article.

10

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A. Malandrini A, et al. Among authors: renieri a. Clin Genet. 2001 Aug;60(2):151-4. doi: 10.1034/j.1399-0004.2001.600210.x. Clin Genet. 2001. PMID: 11553050

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