Downs CA - Search Results

1

Variation in optineurin (OPTN) allele frequencies between and within populations.

Ayala-Lugo RM, Pawar H, Reed DM, Lichter PR, Moroi SE, Page M, Eadie J, Azocar V, Maul E, Ntim-Amponsah C, Bromley W, Obeng-Nyarkoh E, Johnson AT, Kijek TG, Downs CA, Johnson JM, Perez-Grossmann RA, Guevara-Fujita ML, Fujita R, Wallace MR, Richards JE. Ayala-Lugo RM, et al. Among authors: downs ca. Mol Vis. 2007 Feb 2;13:151-63. Mol Vis. 2007. PMID: 17293779 Free PMC article.

2

Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.

McLaren N, Reed DM, Musch DC, Downs CA, Higashi ME, Santiago C, Radenbaugh PA, Allingham RR, Richards JE, Moroi SE. McLaren N, et al. Among authors: downs ca. Arch Ophthalmol. 2007 Jan;125(1):105-11. doi: 10.1001/archopht.125.1.105. Arch Ophthalmol. 2007. PMID: 17210860

3

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. Rozsa FW, et al. Among authors: downs ca. Mol Vis. 1998 Oct 6;4:20. Mol Vis. 1998. PMID: 9772276 Free article.

4

Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.

Lim P, Lichter PR, Higashi M, Downs CA, Richards JE. Lim P, et al. Among authors: downs ca. J Glaucoma. 2003 Apr;12(2):98-103. doi: 10.1097/00061198-200304000-00002. J Glaucoma. 2003. PMID: 12671462

5

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.

Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE. Brooks BP, et al. Among authors: downs ca. Ophthalmic Genet. 2004 Mar;25(1):57-62. doi: 10.1076/opge.25.1.57.29002. Ophthalmic Genet. 2004. PMID: 15255117

6

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. Krafchak CM, et al. Among authors: downs ca. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14. Am J Hum Genet. 2005. PMID: 16252232 Free PMC article.

7

Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis.

Woodroffe A, Krafchak CM, Fuse N, Lichter PR, Moroi SE, Schertzer R, Downs CA, Duren WL, Boehnke M, Richards JE. Woodroffe A, et al. Among authors: downs ca. Exp Eye Res. 2006 Jun;82(6):1068-74. doi: 10.1016/j.exer.2005.10.008. Epub 2005 Nov 18. Exp Eye Res. 2006. PMID: 16298363

8

Juvenile glaucoma linked to GLCIA in a Panamanian family.

Lichter PR, Richards JE, Boehnke M, Othman M, Cameron BD, Stringham HM, Downs CA, Lewis SB, Boyd BF. Lichter PR, et al. Among authors: downs ca. Trans Am Ophthalmol Soc. 1996;94:335-46; discussion 347-51. Trans Am Ophthalmol Soc. 1996. PMID: 8981704 Free PMC article.

9

Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.

Lichter PR, Richards JE, Boehnke M, Othman M, Cameron BD, Stringham HM, Downs CA, Lewis SB, Boyd BF. Lichter PR, et al. Among authors: downs ca. Am J Ophthalmol. 1997 Mar;123(3):413-6. doi: 10.1016/s0002-9394(14)70147-3. Am J Ophthalmol. 1997. PMID: 9063261

10

Cosegregation of open-angle glaucoma and the nail-patella syndrome.

Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA. Lichter PR, et al. Among authors: downs ca. Am J Ophthalmol. 1997 Oct;124(4):506-15. doi: 10.1016/s0002-9394(14)70866-9. Am J Ophthalmol. 1997. PMID: 9323941

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