Ventruto V - Search Results

1

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Among authors: ventruto v. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235

2

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: ventruto v. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958

3

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.

Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A. Miano MG, et al. Among authors: ventruto v. Hum Mutat. 1998;12(3):212-3. Hum Mutat. 1998. PMID: 10651485

4

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

Annunziata I, Lanzara C, Conte I, Zullo A, Ventruto V, Rinaldi MM, D'Urso M, Casari G, Ciccodicola A, Miano MG. Annunziata I, et al. Among authors: ventruto v. Am J Med Genet A. 2003 Apr 30;118A(3):217-22. doi: 10.1002/ajmg.a.10144. Am J Med Genet A. 2003. PMID: 12673650

5

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. de Crecchio G, et al. Among authors: ventruto v. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343

6

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.

Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola A, Forabosco A, Ventruto V, D'Urso M. Flagiello L, et al. Among authors: ventruto v. Hum Mutat. 1998;12(5):361. Hum Mutat. 1998. PMID: 10671058

7

Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.

Simonelli F, Rinaldi M, Nesti A, Testa F, Rinaldi E, Ciccodicola A, Flagiello L, Miano MG, Ventruto V, D'Urso M. Simonelli F, et al. Among authors: ventruto v. Br J Ophthalmol. 1998 Jun;82(6):709. doi: 10.1136/bjo.82.6.709. Br J Ophthalmol. 1998. PMID: 9797678 Free PMC article. No abstract available.

8

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

Fimiani G, Laperuta C, Falco G, Ventruto V, D'Urso M, Ursini MV, Miano MG. Fimiani G, et al. Among authors: ventruto v. Hum Reprod. 2006 Feb;21(2):529-35. doi: 10.1093/humrep/dei356. Epub 2005 Oct 20. Hum Reprod. 2006. PMID: 16239311

9

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Laperuta C, Spizzichino L, D'Adamo P, Monfregola J, Maiorino A, D'Eustacchio A, Ventruto V, Neri G, D'Urso M, Chiurazzi P, Ursini MV, Miano MG. Laperuta C, et al. Among authors: ventruto v. BMC Med Genet. 2007 May 4;8:25. doi: 10.1186/1471-2350-8-25. BMC Med Genet. 2007. PMID: 17480217 Free PMC article.

10

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. Among authors: ventruto v. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

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