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Results: 1 to 20 of 94

1.

CRX variants in cone-rod dystrophy and mutation overview.

Huang L, Xiao X, Li S, Jia X, Wang P, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012.08.110. Epub 2012 Aug 30.

PMID:
22960069
[PubMed - indexed for MEDLINE]
2.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.

Am J Hum Genet. 1998 Nov;63(5):1307-15.

PMID:
9792858
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Rivolta C, Berson EL, Dryja TP.

Hum Mutat. 2001 Dec;18(6):488-98. Review.

PMID:
11748842
[PubMed - indexed for MEDLINE]
4.

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP.

Hum Mutat. 2001 Dec;18(6):550-1.

PMID:
11748859
[PubMed - indexed for MEDLINE]
5.

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.

PMID:
12359607
[PubMed - indexed for MEDLINE]
6.

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ.

Neuron. 1997 Dec;19(6):1329-36.

PMID:
9427255
[PubMed - indexed for MEDLINE]
Free Article
7.

Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.

Zhang Q, Li S, Guo X, Guo L, Xiao X, Jia X, Kuang Z.

Ophthalmic Genet. 2001 Jun;22(2):89-96.

PMID:
11449318
[PubMed - indexed for MEDLINE]
8.

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.

Br J Ophthalmol. 2008 Aug;92(8):1086-91. doi: 10.1136/bjo.2007.133231.

PMID:
18653602
[PubMed - indexed for MEDLINE]
9.

Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene.

Tzekov RT, Sohocki MM, Daiger SP, Birch DG.

Ophthalmic Genet. 2000 Jun;21(2):89-99.

PMID:
10916183
[PubMed - indexed for MEDLINE]
10.
11.

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, Maumenee IH.

Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2076-9.

PMID:
10892846
[PubMed - indexed for MEDLINE]
Free Article
12.

Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.

Itabashi T, Wada Y, Sato H, Kawamura M, Shiono T, Tamai M.

Am J Ophthalmol. 2004 Nov;138(5):876-7.

PMID:
15531334
[PubMed - indexed for MEDLINE]
13.

Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

Nakamura M, Ito S, Miyake Y.

Am J Ophthalmol. 2002 Sep;134(3):465-7.

PMID:
12208271
[PubMed - indexed for MEDLINE]
14.

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61.

PMID:
18055816
[PubMed - indexed for MEDLINE]
Free Article
15.

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.

Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.

Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2417-26.

PMID:
9804150
[PubMed - indexed for MEDLINE]
Free Article
16.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS.

Hum Mutat. 2001;17(1):42-51.

PMID:
11139241
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.

Ophthalmology. 2010 Jun;117(6):1190-8. doi: 10.1016/j.ophtha.2009.09.056. Epub 2010 Jan 15.

PMID:
20079931
[PubMed - indexed for MEDLINE]
18.

Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

Furukawa T, Morrow EM, Li T, Davis FC, Cepko CL.

Nat Genet. 1999 Dec;23(4):466-70.

PMID:
10581037
[PubMed - indexed for MEDLINE]
19.

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy.

Sankila EM, Joensuu TH, Hämäläinen RH, Raitanen N, Valle O, Ignatius J, Cormand B.

Hum Mutat. 2000 Jul;16(1):94. No abstract available.

PMID:
10874321
[PubMed - indexed for MEDLINE]
20.

Mutation discovered in a feline model of human congenital retinal blinding disease.

Menotti-Raymond M, Deckman KH, David V, Myrkalo J, O'Brien SJ, Narfström K.

Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2852-9. doi: 10.1167/iovs.09-4261. Epub 2010 Jan 6.

PMID:
20053974
[PubMed - indexed for MEDLINE]
Free PMC Article

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