Torrente I - Search Results

1

DNA Methylation in the Diagnosis of Monogenic Diseases.

Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: torrente i. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.

2

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.

Torrente I, Mangino M, De Luca A, Mingarelli R, Gennarelli M, Giannotti A, Novelli G, Dallapiccola B. Torrente I, et al. Prenat Diagn. 1998 May;18(5):504-6. Prenat Diagn. 1998. PMID: 9621386

3

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

4

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.

5

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

6

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

7

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: torrente i. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

8

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.

Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B. Bottillo I, et al. Among authors: torrente i. Am J Med Genet A. 2010 Jun;152A(6):1467-73. doi: 10.1002/ajmg.a.33386. Am J Med Genet A. 2010. PMID: 20503322

9

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Pizzuti A, Bottillo I, Inzana F, Lanari V, Buttarelli F, Torrente I, Giallonardo AT, De Luca A, Dallapiccola B. Pizzuti A, et al. Among authors: torrente i. Neurogenetics. 2011 Aug;12(3):233-40. doi: 10.1007/s10048-011-0278-5. Epub 2011 Mar 2. Neurogenetics. 2011. PMID: 21365283

10

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A. D'Asdia MC, et al. Among authors: torrente i. Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220543

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