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Items: 1 to 20 of 99

1.

Increased oxidative metabolism in the Li-Fraumeni syndrome.

Wang PY, Ma W, Park JY, Celi FS, Arena R, Choi JW, Ali QA, Tripodi DJ, Zhuang J, Lago CU, Strong LC, Talagala SL, Balaban RS, Kang JG, Hwang PM.

N Engl J Med. 2013 Mar 14;368(11):1027-32. doi: 10.1056/NEJMoa1214091.

2.

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.

3.

[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

Balmaña J, Nomdedéu J, Díez O, Sabaté JM, Balil A, Pericay C, López López JJ, Brunet J, Baiget M, Alonso C.

Med Clin (Barc). 2002 Oct 19;119(13):497-9. Spanish.

PMID:
12406399
4.

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
5.

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, Netto CB, Cossio SL, Roth DE, Brunetto AL, Zagonel-Oliveira M, Martel-Planche G, Goldim JR, Hainaut P, Camey SA, Ashton-Prolla P.

Cancer. 2013 Dec 15;119(24):4341-9. doi: 10.1002/cncr.28346. Epub 2013 Oct 7.

6.

Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome.

Wang PY, Li J, Walcott FL, Kang JG, Starost MF, Talagala SL, Zhuang J, Park JH, Huffstutler RD, Bryla CM, Mai PL, Pollak M, Annunziata CM, Savage SA, Fojo AT, Hwang PM.

J Clin Invest. 2017 Jan 3;127(1):132-136. doi: 10.1172/JCI88668. Epub 2016 Nov 21.

7.

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D.

Lancet Oncol. 2011 Jun;12(6):559-67. doi: 10.1016/S1470-2045(11)70119-X. Epub 2011 May 19.

8.

[Germline mutations of the p53 gene].

Frebourg T.

Pathol Biol (Paris). 1997 Dec;45(10):845-51. Review. French.

PMID:
9769948
9.

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Silva AG, Krepischi AC, Pearson PL, Hainaut P, Rosenberg C, Achatz MI.

Orphanet J Rare Dis. 2014 Apr 28;9:63. doi: 10.1186/1750-1172-9-63.

10.

A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family.

Plummer SJ, Santibáñez-Koref M, Kurosaki T, Liao S, Noble B, Fain PR, Anton-Culver H, Casey G.

Oncogene. 1994 Nov;9(11):3273-80.

PMID:
7936651
11.

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
12.

p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.

Gonzalez K, Fong C, Buzin C, Sommer SS, Saldivar JS.

Curr Protoc Hum Genet. 2008 Apr;Chapter 10:Unit 10.10. doi: 10.1002/0471142905.hg1010s57.

PMID:
18428420
13.
14.

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF Jr, Savage SA.

Cancer Genet. 2012 Oct;205(10):479-87. doi: 10.1016/j.cancergen.2012.06.008. Epub 2012 Aug 29.

15.

[Li-Fraumeni syndrome].

Frebourg T.

Bull Cancer. 1997 Jul;84(7):735-40. Review. French.

16.

Germline TP53 mutations and Li-Fraumeni syndrome.

Varley JM.

Hum Mutat. 2003 Mar;21(3):313-20. Review. Erratum in: Hum Mutat. 2003 May;21(5):551.

PMID:
12619118
17.

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.

18.

[Li-Fraumeni syndrome].

Tokunaga A, Onda M, Matsukura N, Kato S.

Nihon Rinsho. 1995 Nov;53(11):2797-802. Review. Japanese.

PMID:
8538047
19.

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

Macedo GS, Araujo Vieira I, Brandalize AP, Giacomazzi J, Inez Palmero E, Volc S, Rodrigues Paixão-Côrtes V, Caleffi M, Silva Alves M, Achatz MI, Hainaut P, Ashton-Prolla P.

Cancer Genet. 2016 Mar;209(3):97-106. doi: 10.1016/j.cancergen.2015.12.012. Epub 2016 Jan 7.

PMID:
26823150
20.

Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

Paulasova P, Diblik J, Trkova M, Macek M Sr, Sedlacek Z.

Cancer Genet. 2011 May;204(5):278-81. doi: 10.1016/j.cancergen.2011.03.003.

PMID:
21665182

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