Maher ER - Search Results

1

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.

Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B, Linehan WM. Schmidt LS, et al. Among authors: maher er. Am J Hum Genet. 2005 Jun;76(6):1023-33. doi: 10.1086/430842. Epub 2005 Apr 25. Am J Hum Genet. 2005. PMID: 15852235 Free PMC article.

2

TaqI and PstI RFLPs in the von Hippel-Lindau disease gene (VHL).

Richards FM, Latif F, Lerman MI, Zbar B, Maher ER. Richards FM, et al. Among authors: maher er. Hum Mol Genet. 1993 Oct;2(10):1750. doi: 10.1093/hmg/2.10.1750. Hum Mol Genet. 1993. PMID: 7903582 No abstract available.

3

von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis.

Yao M, Latif F, Orcutt ML, Kuzmin I, Stackhouse T, Zhou FW, Tory K, Duh FM, Richards F, Maher E, et al. Yao M, et al. Hum Genet. 1993 Dec;92(6):605-14. doi: 10.1007/BF00420947. Hum Genet. 1993. PMID: 8262521

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

Age at onset in Huntington's disease and methylation at D4S95.

Reik W, Maher ER, Morrison PJ, Harding AE, Simpson SA. Reik W, et al. Among authors: maher er. J Med Genet. 1993 Mar;30(3):185-8. doi: 10.1136/jmg.30.3.185. J Med Genet. 1993. PMID: 8474105 Free PMC article.

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

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, Richard S, Lips CH, Lerman M, et al. Zbar B, et al. Among authors: maher er. Hum Mutat. 1996;8(4):348-57. doi: 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3. Hum Mutat. 1996. PMID: 8956040

8

Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.

Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, McKeown C, Sanders DS, Maher ER. Richards FM, et al. Among authors: maher er. Hum Mol Genet. 1999 Apr;8(4):607-10. doi: 10.1093/hmg/8.4.607. Hum Mol Genet. 1999. PMID: 10072428

9

Third International Meeting on von Hippel-Lindau disease.

Zbar B, Kaelin W, Maher E, Richard S. Zbar B, et al. Cancer Res. 1999 May 1;59(9):2251-3. Cancer Res. 1999. PMID: 10232616

10

Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease.

Libutti SK, Choyke PL, Alexander HR, Glenn G, Bartlett DL, Zbar B, Lubensky I, McKee SA, Maher ER, Linehan WM, Walther MM. Libutti SK, et al. Among authors: maher er. Surgery. 2000 Dec;128(6):1022-7;discussion 1027-8. doi: 10.1067/msy.2000.110239. Surgery. 2000. PMID: 11114638

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