Maher ER - Search Results

1

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER. Morgan NV, et al. Among authors: maher er. Am J Hum Genet. 2006 Aug;79(2):390-5. doi: 10.1086/506256. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826531 Free PMC article.

2

Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.

Joyce JA, Froggatt NJ, Davies R, Evans DG, Trembath R, Barton DE, Maher ER. Joyce JA, et al. Among authors: maher er. Clin Genet. 1995 Dec;48(6):299-303. doi: 10.1111/j.1399-0004.1995.tb04113.x. Clin Genet. 1995. PMID: 8835324

3

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

Scott RJ, Froggatt NJ, Trembath RC, Evans DG, Hodgson SV, Maher ER. Scott RJ, et al. Among authors: maher er. Hum Mol Genet. 1996 Dec;5(12):1921-4. doi: 10.1093/hmg/5.12.1921. Hum Mol Genet. 1996. PMID: 8968744

4

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

5

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.

6

Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma.

Morrissey C, Martinez A, Zatyka M, Agathanggelou A, Honorio S, Astuti D, Morgan NV, Moch H, Richards FM, Kishida T, Yao M, Schraml P, Latif F, Maher ER. Morrissey C, et al. Among authors: maher er. Cancer Res. 2001 Oct 1;61(19):7277-81. Cancer Res. 2001. PMID: 11585766

7

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Aligianis IA, et al. Among authors: maher er. J Med Genet. 2002 Sep;39(9):656-60. doi: 10.1136/jmg.39.9.656. J Med Genet. 2002. PMID: 12205108 Free PMC article.

8

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA. Morgan NV, et al. Among authors: maher er. Hum Genet. 2002 Oct;111(4-5):456-61. doi: 10.1007/s00439-002-0817-0. Epub 2002 Sep 7. Hum Genet. 2002. PMID: 12384791 Free article.

9

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.

Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. Morgan NV, et al. Among authors: maher er. J Med Genet. 2003 Jun;40(6):431-5. doi: 10.1136/jmg.40.6.431. J Med Genet. 2003. PMID: 12807964 Free PMC article.

10

Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma.

Morris MR, Hesson LB, Wagner KJ, Morgan NV, Astuti D, Lees RD, Cooper WN, Lee J, Gentle D, Macdonald F, Kishida T, Grundy R, Yao M, Latif F, Maher ER. Morris MR, et al. Among authors: maher er. Oncogene. 2003 Oct 2;22(43):6794-801. doi: 10.1038/sj.onc.1206914. Oncogene. 2003. PMID: 14555992

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