Santibáñez-Koref MF - Search Results

1

p53 germline mutations in Li-Fraumeni syndrome.

Santibáñez-Koref MF, Birch JM, Hartley AL, Jones PH, Craft AW, Eden T, Crowther D, Kelsey AM, Harris M. Santibáñez-Koref MF, et al. Lancet. 1991 Dec 14;338(8781):1490-1. doi: 10.1016/0140-6736(91)92303-j. Lancet. 1991. PMID: 1683921

2

Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

Birch JM, Heighway J, Teare MD, Kelsey AM, Hartley AL, Tricker KJ, Crowther D, Lane DP, Santibáñez-Koref MF. Birch JM, et al. Br J Cancer. 1994 Dec;70(6):1176-81. doi: 10.1038/bjc.1994.468. Br J Cancer. 1994. PMID: 7981072 Free PMC article.

3

An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

Varley JM, McGown G, Thorncroft M, Tricker KJ, Teare MD, Santibanez-Koref MF, Martin J, Birch JM, Evans DG. Varley JM, et al. J Med Genet. 1995 Dec;32(12):942-5. doi: 10.1136/jmg.32.12.942. J Med Genet. 1995. PMID: 8825920 Free PMC article.

4

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM. Varley JM, et al. Cancer Res. 1997 Aug 1;57(15):3245-52. Cancer Res. 1997. PMID: 9242456

5

Polymorphism in exon 1 of the c-Ha-ras gene, (HRAS).

Hoban PR, Santibanez-Koref MF, Kelsey AM. Hoban PR, et al. Nucleic Acids Res. 1991 Dec 25;19(24):6976. doi: 10.1093/nar/19.24.6976. Nucleic Acids Res. 1991. PMID: 1684858 Free PMC article. No abstract available.

6

Rare variant (Glu to Lys) in the leucine zipper region of CHOP (GADD153).

Heighway J, White GR, Hartley AL, Birch JM, Santibánez-Koref MF. Heighway J, et al. Oncogene. 1994 Sep;9(9):2737-8. Oncogene. 1994. PMID: 8058339

7

The expression of aphidicolin-induced fragile sites in familial breast cancer patients.

Mitchell EL, Woodhouse B, Birch JM, Santibanez-Koref MF. Mitchell EL, et al. Cancer Genet Cytogenet. 1993 Jun;67(2):108-12. doi: 10.1016/0165-4608(93)90161-e. Cancer Genet Cytogenet. 1993. PMID: 8392434

8

A linkage study in seven breast cancer families.

Teare MD, Santibáñez-Koref MF, Wallace SA, White GR, Evans DG, Burnell LD, Harris M, Howell A, Birch JM. Teare MD, et al. Am J Hum Genet. 1993 Apr;52(4):786-8. Am J Hum Genet. 1993. PMID: 8460644 Free PMC article.

9

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. Plummer SJ, et al. Oncogene. 1994 Nov;9(11):3273-80. Oncogene. 1994. PMID: 7936651

10

A strategy for the rapid isolation of new PCR based DNA polymorphisms.

Hoban PR, Santibanez-Koref MF, Heighway J. Hoban PR, et al. J Med Genet. 1992 Apr;29(4):249-50. doi: 10.1136/jmg.29.4.249. J Med Genet. 1992. PMID: 1349922 Free PMC article. No abstract available.

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