Maher ER - Search Results

1

Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli.

Maher ER, Moore AT. Maher ER, et al. Lancet. 1990 Mar 31;335(8692):791. doi: 10.1016/0140-6736(90)90905-k. Lancet. 1990. PMID: 1969532 No abstract available.

2

Incidence and significance of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial adenomatous polyposis coli (FAPC).

Moore AT, Maher ER, Koch DJ, Charles SJ. Moore AT, et al. Among authors: maher er. Ophthalmic Paediatr Genet. 1992 Jun;13(2):67-71. doi: 10.3109/13816819209087606. Ophthalmic Paediatr Genet. 1992. PMID: 1323091

3

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.

Maher ER, Barton DE, Slatter R, Koch DJ, Jones MH, Nagase H, Payne SJ, Charles SJ, Moore AT, Nakamura Y, et al. Maher ER, et al. J Med Genet. 1993 Aug;30(8):675-8. doi: 10.1136/jmg.30.8.675. J Med Genet. 1993. PMID: 8105087 Free PMC article.

4

Ophthalmological screening for von Hippel-Lindau disease.

Moore AT, Maher ER, Rosen P, Gregor Z, Bird AC. Moore AT, et al. Among authors: maher er. Eye (Lond). 1991;5 ( Pt 6):723-8. doi: 10.1038/eye.1991.133. Eye (Lond). 1991. PMID: 1800174

5

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.

6

Risk of multisystem disease in isolated ocular angioma (haemangioblastoma).

Webster AR, Maher ER, Bird AC, Moore AT. Webster AR, et al. Among authors: maher er. J Med Genet. 2000 Jan;37(1):62-3. doi: 10.1136/jmg.37.1.62. J Med Genet. 2000. PMID: 10691410 Free PMC article. No abstract available.

7

Von Hippel-Lindau disease.

Maher ER, Moore AT. Maher ER, et al. Br J Ophthalmol. 1992 Dec;76(12):743-5. doi: 10.1136/bjo.76.12.743. Br J Ophthalmol. 1992. PMID: 1486078 Free PMC article. Review. No abstract available.

8

Clinical features and natural history of von Hippel-Lindau disease.

Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA. Maher ER, et al. Q J Med. 1990 Nov;77(283):1151-63. doi: 10.1093/qjmed/77.2.1151. Q J Med. 1990. PMID: 2274658

9

Clinical features and molecular genetics of Von Hippel-Lindau disease.

Maher ER, Webster AR, Moore AT. Maher ER, et al. Ophthalmic Genet. 1995 Sep;16(3):79-84. doi: 10.3109/13816819509059966. Ophthalmic Genet. 1995. PMID: 8556282 Review.

10

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT. Reddy MA, et al. Among authors: maher er. Br J Ophthalmol. 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197. Br J Ophthalmol. 2003. PMID: 12543751 Free PMC article. Clinical Trial.

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