Presciuttini S - Search Results

1

Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation.

Giarola M, Stagi L, Presciuttini S, Mondini P, Radice MT, Sala P, Pierotti MA, Bertario L, Radice P. Giarola M, et al. Among authors: presciuttini s. Hum Mutat. 1999;13(2):116-23. doi: 10.1002/(SICI)1098-1004(1999)13:2<116::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 1999. PMID: 10094547

2

Different expressivity of two adjacent mutations of the APC gene.

Presciuttini S, Gismondi V, Scarcello E, Sala P, D'Elia F, Rossetti C, Caroti-Ghelli C, Molina F, Groden J, Mosca F, Bertario L, Varesco L. Presciuttini S, et al. Tumori. 1999 Jan-Feb;85(1):28-31. doi: 10.1177/030089169908500106. Tumori. 1999. PMID: 10228493

3

Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian Registry. Italian Registry of Familial Polyposis Writing Committee.

Bertario L, Presciuttini S, Sala P, Rossetti C, Pietroiusti M. Bertario L, et al. Among authors: presciuttini s. Semin Surg Oncol. 1994 May-Jun;10(3):225-34. doi: 10.1002/ssu.2980100311. Semin Surg Oncol. 1994. PMID: 8085100

4

Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death.

Varesco L, Gismondi V, Presciuttini S, Groden J, Spirio L, Sala P, Rossetti C, De Benedetti L, Bafico A, Heouaine A, et al. Varesco L, et al. Among authors: presciuttini s. Hum Genet. 1994 Mar;93(3):281-6. doi: 10.1007/BF00212023. Hum Genet. 1994. PMID: 8125478

5

Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP).

Bertario L, Bandello F, Rossetti C, Sala P, Fortini E, Spinelli P, Gennari L, Pietroiusti M, Presciuttini S. Bertario L, et al. Among authors: presciuttini s. Eur J Cancer Prev. 1993 Jan;2(1):69-75. doi: 10.1097/00008469-199301000-00011. Eur J Cancer Prev. 1993. PMID: 8381318

6

Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

Gismondi V, Bafico A, Biticchi R, Pedemonte S, Molina F, Heouaine A, Sala P, Bertario L, Presciuttini S, Strigini P, Groden J, Varesco L. Gismondi V, et al. Among authors: presciuttini s. Hum Mutat. 1997;9(4):370-3. doi: 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9101302 No abstract available.

7

Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration.

Gismondi V, Stagnaro P, Pedemonte S, Biticchi R, Presciuttini S, Grammatico P, Sala P, Bertario L, Groden J, Varesco L. Gismondi V, et al. Among authors: presciuttini s. Genes Chromosomes Cancer. 1998 Aug;22(4):278-86. Genes Chromosomes Cancer. 1998. PMID: 9669665

8

Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations.

Presciuttini S, Varesco L, Sala P, Gismondi V, Rossetti C, Bafico A, Ferrara GB, Bertario L. Presciuttini S, et al. Ann Hum Genet. 1994 Oct;58(4):331-42. doi: 10.1111/j.1469-1809.1994.tb00730.x. Ann Hum Genet. 1994. PMID: 7864589

9

Correlation between relatives for colorectal cancer mortality in familial adenomatous polyposis.

Presciuttini S, Bertario L, Sala P, Rossetti C, Lewontin RC. Presciuttini S, et al. Ann Hum Genet. 1993 May;57(2):105-15. doi: 10.1111/j.1469-1809.1993.tb00892.x. Ann Hum Genet. 1993. PMID: 8396382

10

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.

Pensotti V, Radice P, Presciuttini S, Calistri D, Gazzoli I, Grimalt Perez A, Mondini P, Buonsanti G, Sala P, Rossetti C, Ranzani GN, Bertario L, Pierotti MA. Pensotti V, et al. Among authors: presciuttini s. Genes Chromosomes Cancer. 1997 Jul;19(3):135-42. Genes Chromosomes Cancer. 1997. PMID: 9218993

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