Holder GE - Search Results

1

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. Payne AM, et al. Among authors: holder ge. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

2

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Among authors: holder ge. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

3

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: holder ge. Arch Ophthalmol. 2001 Jan;119(1):96-105. Arch Ophthalmol. 2001. PMID: 11146732

4

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Among authors: holder ge. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

5

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Bessant DA, et al. Among authors: holder ge. Arch Ophthalmol. 2003 Jun;121(6):793-802. doi: 10.1001/archopht.121.6.793. Arch Ophthalmol. 2003. PMID: 12796249

6

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS. Abu-Safieh L, et al. Among authors: holder ge. Mol Vis. 2006 Apr 18;12:384-8. Mol Vis. 2006. PMID: 16636657 Free article.

7

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: holder ge. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.

8

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: holder ge. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.

9

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Among authors: holder ge. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 Free PMC article.

10

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: holder ge. Arch Ophthalmol. 1999 Oct;117(10):1373-83. doi: 10.1001/archopht.117.10.1373. Arch Ophthalmol. 1999. PMID: 10532447

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