Maher ER - Search Results

1

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Among authors: maher er. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.

2

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.

3

A genetic register for von Hippel-Lindau disease.

Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DG. Maddock IR, et al. Among authors: maher er. J Med Genet. 1996 Feb;33(2):120-7. doi: 10.1136/jmg.33.2.120. J Med Genet. 1996. PMID: 8929948 Free PMC article.

4

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER. Woodward ER, et al. Among authors: maher er. Hum Mol Genet. 1997 Jul;6(7):1051-6. doi: 10.1093/hmg/6.7.1051. Hum Mol Genet. 1997. PMID: 9215674

5

Molecular genetic analysis of von Hippel-Lindau disease.

Richards FM, Webster AR, McMahon R, Woodward ER, Rose S, Maher ER. Richards FM, et al. Among authors: maher er. J Intern Med. 1998 Jun;243(6):527-33. doi: 10.1046/j.1365-2796.1998.00334.x. J Intern Med. 1998. PMID: 9681854 Free article. Review.

6

Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes.

Woodward ER, Clifford SC, Astuti D, Affara NA, Maher ER. Woodward ER, et al. Among authors: maher er. J Med Genet. 2000 May;37(5):348-53. doi: 10.1136/jmg.37.5.348. J Med Genet. 2000. PMID: 10807693 Free PMC article.

7

Comparative sequence analysis of the VHL tumor suppressor gene.

Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER. Woodward ER, et al. Among authors: maher er. Genomics. 2000 May 1;65(3):253-65. doi: 10.1006/geno.2000.6144. Genomics. 2000. PMID: 10857749

8

Germline SDHD mutation in familial phaeochromocytoma.

Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER. Astuti D, et al. Among authors: maher er. Lancet. 2001 Apr 14;357(9263):1181-2. doi: 10.1016/S0140-6736(00)04378-6. Lancet. 2001. PMID: 11323050

9

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

Clifford SC, Cockman ME, Smallwood AC, Mole DR, Woodward ER, Maxwell PH, Ratcliffe PJ, Maher ER. Clifford SC, et al. Among authors: maher er. Hum Mol Genet. 2001 May 1;10(10):1029-38. doi: 10.1093/hmg/10.10.1029. Hum Mol Genet. 2001. PMID: 11331613

10

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER. Astuti D, et al. Among authors: maher er. Am J Hum Genet. 2001 Jul;69(1):49-54. doi: 10.1086/321282. Epub 2001 Jun 12. Am J Hum Genet. 2001. PMID: 11404820 Free PMC article.

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