Parenti G - Search Results

1

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: parenti g. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

2

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Among authors: parenti g. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.

3

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: parenti g. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

4

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R. Filocamo M, et al. Among authors: parenti g. Hum Mutat. 2002 Sep;20(3):234-5. doi: 10.1002/humu.9058. Hum Mutat. 2002. PMID: 12204005

5

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: parenti g. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

6

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

Ricci V, Stroppiano M, Corsolini F, Di Rocco M, Parenti G, Regis S, Grossi S, Biancheri R, Mazzotti R, Filocamo M. Ricci V, et al. Among authors: parenti g. Hum Mutat. 2004 Jul;24(1):105. doi: 10.1002/humu.9258. Hum Mutat. 2004. PMID: 15221801

7

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Esposito G, et al. Among authors: parenti g. Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9290. Hum Mutat. 2004. PMID: 15532022

8

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Melis D, et al. Among authors: parenti g. Eur J Pediatr. 2005 Aug;164(8):501-8. doi: 10.1007/s00431-005-1657-4. Epub 2005 May 19. Eur J Pediatr. 2005. PMID: 15906092 Review.

9

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Regis S, Lualdi S, Biffi A, Sessa M, Corsolini F, Parenti G, Filocamo M. Regis S, et al. Among authors: parenti g. Mol Genet Metab. 2006 Sep-Oct;89(1-2):150-5. doi: 10.1016/j.ymgme.2006.03.016. Epub 2006 Jun 19. Mol Genet Metab. 2006. PMID: 16782379

10

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.

Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Montalvo AL, et al. Among authors: parenti g. Hum Mutat. 2006 Oct;27(10):999-1006. doi: 10.1002/humu.20374. Hum Mutat. 2006. PMID: 16917947

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