Richards JE - Search Results

1

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.

Eyaid WM, Clough MV, Root H, Scott KM, McCormick MK, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. Eyaid WM, et al. Among authors: richards je. Hum Genet. 1998 Oct;103(4):525-6. doi: 10.1007/s004390050862. Hum Genet. 1998. PMID: 9856502 Free article. No abstract available.

2

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. Vollrath D, et al. Among authors: richards je. Hum Mol Genet. 1998 Jul;7(7):1091-8. doi: 10.1093/hmg/7.7.1091. Hum Mol Genet. 1998. PMID: 9618165

3

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

Farley FA, Lichter PR, Downs CA, McIntosh I, Vollrath D, Richards JE. Farley FA, et al. Among authors: richards je. J Pediatr Orthop. 1999 Sep-Oct;19(5):624-31. J Pediatr Orthop. 1999. PMID: 10488864

4

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.

Richards JE, Scott KM, Sieving PA. Richards JE, et al. Ophthalmology. 1995 Apr;102(4):669-77. doi: 10.1016/s0161-6420(95)30972-4. Ophthalmology. 1995. PMID: 7724183

5

Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.

Hou YC, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA. Hou YC, et al. Among authors: richards je. Hum Hered. 1996 Jul-Aug;46(4):211-20. doi: 10.1159/000154356. Hum Hered. 1996. PMID: 8807324

6

Genome-wide association study and meta-analysis of intraocular pressure.

Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, Scott K, Rozsa F, Pawar H, Musch DC, Lichter PR, Gaasterland D, Branham K, Gilbert J, Garnai SJ, Chen W, Othman M, Heckenlively J, Swaroop A, Abecasis G, Friedman DS, Zack D, Ashley-Koch A, Ulmer M, Kang JH; NEIGHBOR Consortium; Liu Y, Yaspan BL, Haines J, Allingham RR, Hauser MA, Pasquale L, Wiggs J, Richards JE, Li JZ. Ozel AB, et al. Among authors: richards je. Hum Genet. 2014 Jan;133(1):41-57. doi: 10.1007/s00439-013-1349-5. Epub 2013 Sep 4. Hum Genet. 2014. PMID: 24002674 Free PMC article.

7

Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.

Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A. Farjo Q, et al. Among authors: richards je. Genomics. 1997 Oct 15;45(2):395-401. doi: 10.1006/geno.1997.4964. Genomics. 1997. PMID: 9344665

8

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

Aschard H, Kang JH, Iglesias AI, Hysi P, Cooke Bailey JN, Khawaja AP, Allingham RR, Ashley-Koch A, Lee RK, Moroi SE, Brilliant MH, Wollstein G, Schuman JS, Fingert JH, Budenz DL, Realini T, Gaasterland T, Scott WK, Singh K, Sit AJ, Igo RP Jr, Song YE, Hark L, Ritch R, Rhee DJ, Gulati V, Haven S, Vollrath D, Zack DJ, Medeiros F, Weinreb RN, Cheng CY, Chasman DI, Christen WG, Pericak-Vance MA, Liu Y, Kraft P, Richards JE, Rosner BA, Hauser MA; International Glaucoma Genetics Consortium; Klaver CCW, vanDuijn CM, Haines J, Wiggs JL, Pasquale LR. Aschard H, et al. Among authors: richards je. Eur J Hum Genet. 2017 Nov;25(11):1261-1267. doi: 10.1038/ejhg.2017.136. Epub 2017 Aug 30. Eur J Hum Genet. 2017. PMID: 28853718 Free PMC article.

9

Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus.

Rozsa FW, Scott KM, Pawar H, Samples JR, Wirtz MK, Richards JE. Rozsa FW, et al. Among authors: richards je. Arch Ophthalmol. 2007 Jan;125(1):117-27. doi: 10.1001/archopht.125.1.117. Arch Ophthalmol. 2007. PMID: 17210862

10

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Sieving PA, et al. Among authors: richards je. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):880-4. doi: 10.1073/pnas.92.3.880. Proc Natl Acad Sci U S A. 1995. PMID: 7846071 Free PMC article.

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