Maher ER - Search Results

1

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Müller F, Maher ER, Barr FA, Aligianis IA. Bem D, et al. Among authors: maher er. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. Am J Hum Genet. 2011. PMID: 21473985 Free PMC article.

2

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

3

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

4

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

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

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.

7

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.

8

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.

9

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Among authors: maher er. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.

10

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT. Michaelides M, et al. Among authors: maher er. Br J Ophthalmol. 2003 Nov;87(11):1317-20. doi: 10.1136/bjo.87.11.1317. Br J Ophthalmol. 2003. PMID: 14609822 Free PMC article.

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