Torrente I - Search Results

1

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B. De Luca A, et al. Among authors: torrente i. Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245. Hum Mutat. 2004. PMID: 15146469

2

Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadalà P, Dallapiccola B. Torrente I, et al. Am J Med Genet. 1997 Oct 17;72(2):242-4. doi: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9382152 No abstract available.

3

From genetic research into clinical practice.

Dallapiccola B, Torrente I, Mingarelli R, Novelli G. Dallapiccola B, et al. Among authors: torrente i. Acta Genet Med Gemellol (Roma). 1997;46(3):139-46. doi: 10.1017/s0001566000000556. Acta Genet Med Gemellol (Roma). 1997. PMID: 9645231

4

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: torrente i. Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843. Hum Hered. 1999. PMID: 9858861

5

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.

Mangino M, Torrente I, De Luca A, Sanchez O, Dallapiccola B, Novelli G. Mangino M, et al. Among authors: torrente i. J Hum Genet. 1999;44(1):76-7. doi: 10.1007/s100380050113. J Hum Genet. 1999. PMID: 9929985

6

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G, Dallapiccola B. Mangino M, et al. Among authors: torrente i. Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505. Am J Hum Genet. 1999. PMID: 10417287 Free PMC article.

7

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: torrente i. Hum Mutat. 1998;12(5):361. Hum Mutat. 1998. PMID: 10671058

8

Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates.

De Luca A, Rizzardi M, Torrente I, Alessandroni R, Salvioli GP, Filograsso N, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: torrente i. Neurogenetics. 2001 Mar;3(2):79-82. doi: 10.1007/s100480100106. Neurogenetics. 2001. PMID: 11354829

9

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: torrente i. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235

10

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: torrente i. Mutat Res. 2001 Jan;432(3-4):79-82. doi: 10.1016/s1383-5726(00)00007-8. Mutat Res. 2001. PMID: 11465545

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