Maher ER - Search Results

1

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER. Yngvadottir B, et al. Among authors: maher er. Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089. Hum Mol Genet. 2022. PMID: 35441217 Free PMC article.

2

Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma.

Maher ER, Yates JR, Ferguson-Smith MA. Maher ER, et al. J Med Genet. 1990 May;27(5):311-4. doi: 10.1136/jmg.27.5.311. J Med Genet. 1990. PMID: 2352258 Free PMC article.

3

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.

Irving RM, Moffat DA, Hardy DG, Barton DE, Xuereb JH, Maher ER. Irving RM, et al. Among authors: maher er. Hum Mol Genet. 1994 Feb;3(2):347-50. doi: 10.1093/hmg/3.2.347. Hum Mol Genet. 1994. PMID: 8004107

4

Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).

Phipps ME, Maher ER, Affara NA, Latif F, Leversha MA, Ferguson-Smith ME, Nakamura Y, Lerman M, Zbar B, Ferguson-Smith MA. Phipps ME, et al. Among authors: maher er. Hum Genet. 1993 Aug;92(1):18-22. doi: 10.1007/BF00216139. Hum Genet. 1993. PMID: 8365722

5

Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.

Crossey PA, Maher ER, Jones MH, Richards FM, Latif F, Phipps ME, Lush M, Foster K, Tory K, Green JS, et al. Crossey PA, et al. Among authors: maher er. Hum Mol Genet. 1993 Mar;2(3):279-82. doi: 10.1093/hmg/2.3.279. Hum Mol Genet. 1993. PMID: 8499917

6

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER. Richards FM, et al. Among authors: maher er. Hum Mol Genet. 1995 Nov;4(11):2139-43. doi: 10.1093/hmg/4.11.2139. Hum Mol Genet. 1995. PMID: 8589692

7

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ, Moore AT. Maher ER, et al. J Med Genet. 1996 Apr;33(4):328-32. doi: 10.1136/jmg.33.4.328. J Med Genet. 1996. PMID: 8730290 Free PMC article.

8

Inherited renal cell carcinoma.

Maher ER. Maher ER. Br J Urol. 1996 Oct;78(4):542-5. doi: 10.1046/j.1464-410x.1996.01749.x. Br J Urol. 1996. PMID: 8944511 Review. No abstract available.

9

Microsatellite instability in early onset and familial colorectal cancer.

Brassett C, Joyce JA, Froggatt NJ, Williams G, Furniss D, Walsh S, Miller R, Evans DG, Maher ER. Brassett C, et al. Among authors: maher er. J Med Genet. 1996 Dec;33(12):981-5. doi: 10.1136/jmg.33.12.981. J Med Genet. 1996. PMID: 9004127 Free PMC article.

10

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Prowse AH, Webster AR, Richards FM, Richard S, Olschwang S, Resche F, Affara NA, Maher ER. Prowse AH, et al. Among authors: maher er. Am J Hum Genet. 1997 Apr;60(4):765-71. Am J Hum Genet. 1997. PMID: 9106522 Free PMC article.

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