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Results: 1 to 20 of 100

1.

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

Schwarzbraun T, Obenauf AC, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher MR, Kroisel PM.

J Med Genet. 2009 May;46(5):341-4. doi: 10.1136/jmg.2008.064972. Epub 2009 Mar 5.

PMID:
19269943
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.

Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ.

J Med Genet. 2010 Jun;47(6):421-8. doi: 10.1136/jmg.2009.073429.

PMID:
20522432
[PubMed - indexed for MEDLINE]
3.

High frequency of de novo mutations in Li-Fraumeni syndrome.

Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS.

J Med Genet. 2009 Oct;46(10):689-93. doi: 10.1136/jmg.2008.058958. Epub 2009 Jun 25.

PMID:
19556618
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

Germline mutations in the TP53 gene.

Eeles RA.

Cancer Surv. 1995;25:101-24. Review.

PMID:
8718514
[PubMed - indexed for MEDLINE]
6.

A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome.

Dockhorn-Dworniczak B, Wolff J, Poremba C, Schäfer KL, Ritter J, Gullotta F, Jürgens H, Böcker W.

Eur J Cancer. 1996 Jul;32A(8):1359-65.

PMID:
8869100
[PubMed - indexed for MEDLINE]
7.

Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10.

Stone JG, Eeles RA, Sodha N, Murday V, Sheriden E, Houlston RS.

Cancer Lett. 1999 Dec 1;147(1-2):181-5.

PMID:
10660104
[PubMed - indexed for MEDLINE]
8.

Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

Güran S, Tunca Y, Imirzalioğlu N.

Cancer Genet Cytogenet. 1999 Sep;113(2):145-51.

PMID:
10484981
[PubMed - indexed for MEDLINE]
9.

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D.

Proc Natl Acad Sci U S A. 2008 Aug 12;105(32):11264-9. doi: 10.1073/pnas.0802970105. Epub 2008 Aug 6.

PMID:
18685109
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.

Kamihara J, Rana HQ, Garber JE.

Hum Mutat. 2014 Jun;35(6):654-62. doi: 10.1002/humu.22559. Review.

PMID:
24706533
[PubMed - indexed for MEDLINE]
11.

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P.

Cancer Lett. 2007 Jan 8;245(1-2):96-102. Epub 2006 Feb 21.

PMID:
16494995
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
9764816
[PubMed - indexed for MEDLINE]
Free Article
13.

A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family.

Guran S, Beyan C, Nevruz O, Yakicier C, Tunca Y.

Clin Lab Haematol. 2005 Apr;27(2):135-8.

PMID:
15784129
[PubMed - indexed for MEDLINE]
14.

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

Marcel V, Palmero EI, Falagan-Lotsch P, Martel-Planche G, Ashton-Prolla P, Olivier M, Brentani RR, Hainaut P, Achatz MI.

J Med Genet. 2009 Nov;46(11):766-72. doi: 10.1136/jmg.2009.066704. Epub 2009 Jun 18.

PMID:
19542078
[PubMed - indexed for MEDLINE]
15.

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P.

Curr Opin Oncol. 2010 Jan;22(1):64-9. doi: 10.1097/CCO.0b013e328333bf00. Review.

PMID:
19952748
[PubMed - indexed for MEDLINE]
16.

Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.

Lin MT, Shieh JJ, Chang JH, Chang SW, Chen TC, Hsu WH.

Pediatr Blood Cancer. 2009 Apr;52(4):541-4. doi: 10.1002/pbc.21836.

PMID:
19101993
[PubMed - indexed for MEDLINE]
17.

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.

Rieber J, Remke M, Hartmann C, Korshunov A, Burkhardt B, Sturm D, Mechtersheimer G, Wittmann A, Greil J, Blattmann C, Witt O, Behnisch W, Halatsch ME, Orakcioglu B, von Deimling A, Lichter P, Kulozik A, Pfister S.

Genes Chromosomes Cancer. 2009 Jul;48(7):558-68. doi: 10.1002/gcc.20665.

PMID:
19378321
[PubMed - indexed for MEDLINE]
18.

Balanced t(11;15)(q23;q15) in a TP53+/+ breast cancer patient from a Li-Fraumeni syndrome family.

Sherif ZA, Danielsen M.

Cancer Genet Cytogenet. 2006 Jul 1;168(1):50-8.

PMID:
16772121
[PubMed - indexed for MEDLINE]
19.

Childhood predictive genetic testing for Li-Fraumeni syndrome.

Evans DG, Lunt P, Clancy T, Eeles R.

Fam Cancer. 2010 Mar;9(1):65-9. doi: 10.1007/s10689-009-9245-9. Epub 2009 Apr 30.

PMID:
19404774
[PubMed - indexed for MEDLINE]
20.

A detailed study of loss of heterozygosity on chromosome 17 in tumours from Li-Fraumeni patients carrying a mutation to the TP53 gene.

Varley JM, Thorncroft M, McGown G, Appleby J, Kelsey AM, Tricker KJ, Evans DG, Birch JM.

Oncogene. 1997 Feb 20;14(7):865-71.

PMID:
9047394
[PubMed - indexed for MEDLINE]
Free Article
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