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Items: 1 to 20 of 195

1.

Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation.

Capponcelli S, Pedrini E, Cerone MA, Corti V, Fontanesi S, Alessio M, Bachi A, Soddu S, Ribatti D, Picci P, Helman LJ, Cantelli-Forti G, Sangiorgi L.

Hum Mutat. 2005 Aug;26(2):94-103.

PMID:
15977174
2.

Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA.

Cancer Res. 2003 Oct 15;63(20):6643-50.

3.
4.

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

Trkova M, Foretova L, Kodet R, Hedvicakova P, Sedlacek Z.

Cancer Genet Cytogenet. 2003 Aug;145(1):60-4.

PMID:
12885464
5.
6.

Cell cycle arrest defect in Li-Fraumeni Syndrome: a mechanism of cancer predisposition?

Williams KJ, Boyle JM, Birch JM, Norton JD, Scott D.

Oncogene. 1997 Jan 23;14(3):277-82.

7.

Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

MacGeoch C, Turner G, Bobrow LG, Barnes DM, Bishop DT, Spurr NK.

J Med Genet. 1995 Mar;32(3):186-90.

8.

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

De Moura J, Kavalec FL, Doghman M, Rosati R, Custodio G, Lalli E, Cavallari GM, Santa Maria J, Figueiredo BC.

Int J Oncol. 2010 Apr;36(4):983-90.

PMID:
20198344
9.

Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, Tricker KJ, Varley JM.

Oncogene. 1998 Sep 3;17(9):1061-8.

10.

Combination of doxorubicin and sulforaphane for reversing doxorubicin-resistant phenotype in mouse fibroblasts with p53Ser220 mutation.

Fimognari C, Lenzi M, Sciuscio D, Cantelli-Forti G, Hrelia P.

Ann N Y Acad Sci. 2007 Jan;1095:62-9.

PMID:
17404018
11.

A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla.

Patrikidou A, Bennett J, Abou-Sleiman P, Delhanty JD, Harris M.

Oral Oncol. 2002 Jun;38(4):383-90.

PMID:
12076704
12.

Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome.

Lang GA, Iwakuma T, Suh YA, Liu G, Rao VA, Parant JM, Valentin-Vega YA, Terzian T, Caldwell LC, Strong LC, El-Naggar AK, Lozano G.

Cell. 2004 Dec 17;119(6):861-72.

13.

Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families.

Boyle JM, Mitchell EL, Greaves MJ, Roberts SA, Tricker K, Burt E, Varley JM, Birch JM, Scott D.

Br J Cancer. 1998 Jun;77(12):2181-92.

14.

Analysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations.

Liu PK, Kraus E, Wu TA, Strong LC, Tainsky MA.

Oncogene. 1996 Jun 6;12(11):2267-78.

15.

The Li-Fraumeni syndrome: an inherited susceptibility to cancer.

Evans SC, Lozano G.

Mol Med Today. 1997 Sep;3(9):390-5. Review.

PMID:
9302689
16.

Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family.

Varley JM, Chapman P, McGown G, Thorncroft M, White GR, Greaves MJ, Scott D, Spreadborough A, Tricker KJ, Birch JM, Evans DG, Reddel R, Camplejohn RS, Burn J, Boyle JM.

Oncogene. 1998 Jun 25;16(25):3291-8.

17.

Germ line BAX alterations are infrequent in Li-Fraumeni syndrome.

Barlow JW, Mous M, Wiley JC, Varley JM, Lozano G, Strong LC, Malkin D.

Cancer Epidemiol Biomarkers Prev. 2004 Aug;13(8):1403-6.

18.

Mutant p53 gain of oncogenic function: in vivo evidence, mechanism of action and its clinical implications.

Adhikari AS, Iwakuma T.

Fukuoka Igaku Zasshi. 2009 Jun;100(6):217-28. Review.

PMID:
19670804
19.

Two TP53 germline mutations in a classical Li-Fraumeni syndrome family.

van Hest LP, Ruijs MW, Wagner A, van der Meer CA, Verhoef S, van't Veer LJ, Meijers-Heijboer H.

Fam Cancer. 2007;6(3):311-6. Epub 2007 Feb 23.

PMID:
17318340
20.

The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

Siddiqui R, Onel K, Facio F, Nafa K, Diaz LR, Kauff N, Huang H, Robson M, Ellis N, Offit K.

Fam Cancer. 2005;4(2):177-81.

PMID:
15951970
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