Downey LM - Search Results

1

Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken.

Inglehearn CF, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Smith J, Petersen-Jones S, Hocking PM, Burt DW. Inglehearn CF, et al. Among authors: downey lm. Mol Vis. 2003 Jul 1;9:295-300. Mol Vis. 2003. PMID: 12847422 Free article.

2

Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa.

Burt DW, Morrice DR, Lester DH, Robertson GW, Mohamed MD, Simmons I, Downey LM, Thaung C, Bridges LR, Paton IR, Gentle M, Smith J, Hocking PM, Inglehearn CF. Burt DW, et al. Among authors: downey lm. Mol Vis. 2003 Apr 30;9:164-70. Mol Vis. 2003. PMID: 12724645 Free article.

3

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF. Toomes C, et al. Among authors: downey lm. Mol Vis. 2004 Jan 15;10:37-42. Mol Vis. 2004. PMID: 14737064 Free article.

4

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF. Downey LM, et al. Eur J Hum Genet. 2002 Dec;10(12):865-9. doi: 10.1038/sj.ejhg.5200884. Eur J Hum Genet. 2002. PMID: 12461695

5

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: downey lm. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.

6

Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

Bamashmus MA, Downey LM, Inglehearn CF, Gupta SR, Mansfield DC. Bamashmus MA, et al. Among authors: downey lm. Br J Ophthalmol. 2000 Apr;84(4):358-63. doi: 10.1136/bjo.84.4.358. Br J Ophthalmol. 2000. PMID: 10729291 Free PMC article.

7

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF. Toomes C, et al. Among authors: downey lm. Br J Ophthalmol. 2005 Feb;89(2):194-7. doi: 10.1136/bjo.2004.042507. Br J Ophthalmol. 2005. PMID: 15665352 Free PMC article.

8

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Gilmour DF, Downey LM, Sheridan E, Long V, Bradbury J, Inglehearn CF, Toomes C. Gilmour DF, et al. Among authors: downey lm. Ophthalmology. 2009 Aug;116(8):1522-4. doi: 10.1016/j.ophtha.2009.02.032. Epub 2009 Jun 5. Ophthalmology. 2009. PMID: 19501404

9

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF. Downey LM, et al. Am J Hum Genet. 2001 Mar;68(3):778-81. doi: 10.1086/318790. Epub 2001 Jan 19. Am J Hum Genet. 2001. PMID: 11179025 Free PMC article.

10

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: downey lm. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576

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