Cusano R - Search Results

1

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.

De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG. De Benedetti F, et al. Among authors: cusano r. Clin Gastroenterol Hepatol. 2006 May;4(5):653-9. doi: 10.1016/j.cgh.2005.12.014. Clin Gastroenterol Hepatol. 2006. PMID: 16630773

2

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.

Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F. Perroni L, et al. Among authors: cusano r. Prenat Diagn. 2006 May;26(5):487-9. doi: 10.1002/pd.1440. Prenat Diagn. 2006. PMID: 16652396 No abstract available.

3

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB. Pastorino L, et al. Among authors: cusano r. Child Care Health Dev. 2005 May;31(3):351-4. doi: 10.1111/j.1365-2214.2005.00514.x. Child Care Health Dev. 2005. PMID: 15840155

4

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G. Pastorino L, et al. Among authors: cusano r. Hum Mutat. 2005 Mar;25(3):322-3. doi: 10.1002/humu.9317. Hum Mutat. 2005. PMID: 15712338

5

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.

Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R. Regis S, et al. Among authors: cusano r. Prenat Diagn. 2001 Aug;21(8):668-71. doi: 10.1002/pd.112. Prenat Diagn. 2001. PMID: 11536268

6

Novel MC1R variants in Ligurian melanoma patients and controls.

Pastorino L, Cusano R, Bruno W, Lantieri F, Origone P, Barile M, Gliori S, Shepherd GA, Sturm RA, Bianchi-Scarra G. Pastorino L, et al. Among authors: cusano r. Hum Mutat. 2004 Jul;24(1):103. doi: 10.1002/humu.9253. Hum Mutat. 2004. PMID: 15221796

7

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB. Pastorino L, et al. Among authors: cusano r. Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944. Am J Med Genet A. 2009. PMID: 19533801

8

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P. Gargiulo S, et al. Among authors: cusano r. Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1. Fam Cancer. 2009. PMID: 19728162

9

INK4/ARF germline alterations in pancreatic cancer patients.

Ghiorzo P, Pastorino L, Bonelli L, Cusano R, Nicora A, Zupo S, Queirolo P, Sertoli M, Pugliese V, Bianchi-Scarrà G. Ghiorzo P, et al. Among authors: cusano r. Ann Oncol. 2004 Jan;15(1):70-8. doi: 10.1093/annonc/mdg498. Ann Oncol. 2004. PMID: 14679123 Free article.

10

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.

Ghiorzo P, Gargiulo S, Pastorino L, Nasti S, Cusano R, Bruno W, Gliori S, Sertoli MR, Burroni A, Savarino V, Gensini F, Sestini R, Queirolo P, Goldstein AM, Scarrà GB. Ghiorzo P, et al. Among authors: cusano r. Hum Mol Genet. 2006 Sep 15;15(18):2682-9. doi: 10.1093/hmg/ddl199. Epub 2006 Aug 7. Hum Mol Genet. 2006. PMID: 16893909

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