Schirinzi A - Search Results

1

Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.

Nemoto H, Tate G, Schirinzi A, Suzuki T, Sasaya S, Yoshizawa Y, Midorikawa T, Mitsuya T, Dallapiccola B, Sanada Y. Nemoto H, et al. Among authors: schirinzi a. J Gastroenterol. 2006 Apr;41(4):378-82. doi: 10.1007/s00535-006-1772-7. J Gastroenterol. 2006. PMID: 16741618

2

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: schirinzi a. Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245. Hum Mutat. 2004. PMID: 15146469

3

Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.

Schirinzi A, Drmanac S, Dallapiccola B, Huang S, Scott K, De Luca A, Swanson D, Drmanac R, Surrey S, Fortina P. Schirinzi A, et al. Genet Test. 2006 Spring;10(1):8-17. doi: 10.1089/gte.2006.10.8. Genet Test. 2006. PMID: 16544997

4

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: schirinzi a. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

5

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: schirinzi a. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

6

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

De Luca A, Bottillo I, Dasdia MC, Morella A, Lanari V, Bernardini L, Divona L, Giustini S, Sinibaldi L, Novelli A, Torrente I, Schirinzi A, Dallapiccola B. De Luca A, et al. Among authors: schirinzi a. J Med Genet. 2007 Dec;44(12):800-8. doi: 10.1136/jmg.2007.053785. J Med Genet. 2007. PMID: 18055911 Free PMC article.

7

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.

Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: schirinzi a. Am J Med Genet A. 2007 May 1;143A(9):1009-11. doi: 10.1002/ajmg.a.31666. Am J Med Genet A. 2007. PMID: 17366582 No abstract available.

8

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).

Schirinzi A, Centra M, Prattichizzo C, Gigante M, De Fabritiis M, Giancaspro V, Petrarulo F, Santacroce R, Margaglione M, Gesualdo L, Ranieri E. Schirinzi A, et al. Mol Genet Metab. 2008 Jul;94(3):382-5. doi: 10.1016/j.ymgme.2008.03.017. Epub 2008 May 9. Mol Genet Metab. 2008. PMID: 18472290

9

TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype.

Gigante M, Caridi G, Montemurno E, Soccio M, d'Apolito M, Cerullo G, Aucella F, Schirinzi A, Emma F, Massella L, Messina G, De Palo T, Ranieri E, Ghiggeri GM, Gesualdo L. Gigante M, et al. Among authors: schirinzi a. Clin J Am Soc Nephrol. 2011 Jul;6(7):1626-34. doi: 10.2215/CJN.07830910. Clin J Am Soc Nephrol. 2011. PMID: 21734084

10

[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].

Gigante M, Caridi G, Montemurno E, Trunzo R, Schirinzi A, Aucella F, Messina G, Massella L, Ranieri E, Ghiggeri GM, Gesualdo L. Gigante M, et al. Among authors: schirinzi a. G Ital Nefrol. 2011 Jul-Aug;28(4):350-2. G Ital Nefrol. 2011. PMID: 21809298 Italian. No abstract available.

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