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Items: 1 to 20 of 60

1.

Association of Cone-Rod Homeobox Transcription Factor Messenger RNA With Pediatric Metastatic Retinoblastoma.

Torbidoni AV, Laurent VE, Sampor C, Ottaviani D, Vazquez V, Gabri MR, Rossi J, de Dávila MT, Alonso C, Alonso DF, Chantada GL.

JAMA Ophthalmol. 2015 Jul;133(7):805-12. doi: 10.1001/jamaophthalmol.2015.0900.

PMID:
25928893
2.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson A, Holder GE, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2014 Sep 30;55(10):6934-44. doi: 10.1167/iovs.14-14715.

PMID:
25270190
3.

Is CRX protein a useful marker in differential diagnosis of tumors of the pineal region?

Manila A, Mariangela N, Libero L, Francesca G, Romana BF, Felice G.

Pediatr Dev Pathol. 2014 Mar-Apr;17(2):85-8. doi: 10.2350/13-06-1346-OA.1. Epub 2014 Feb 20.

PMID:
24555912
4.

De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.

Zou X, Yao F, Liang X, Xu F, Li H, Sui R, Dong F.

Ophthalmic Genet. 2015 Mar;36(1):21-6. doi: 10.3109/13816810.2013.827219. Epub 2013 Sep 3.

PMID:
24001014
5.

CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors.

Gielen GH, Gessi M, Denkhaus D, Pietsch T.

Appl Immunohistochem Mol Morphol. 2013 May;21(3):248-53. doi: 10.1097/PAI.0b013e3182649dad.

PMID:
23235340
6.

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
7.

Immunohistochemical expression of CRX in extracranial malignant small round cell tumors.

Terry J, Calicchio ML, Rodriguez-Galindo C, Perez-Atayde AR.

Am J Surg Pathol. 2012 Aug;36(8):1165-9. doi: 10.1097/PAS.0b013e3182601d84.

PMID:
22790857
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
9.

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.

Wang P, Guo X, Zhang Q.

Graefes Arch Clin Exp Ophthalmol. 2007 Sep;245(9):1401-2. Epub 2007 Mar 9. No abstract available.

PMID:
17347810
10.

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.

PMID:
17320181
11.

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
12.

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
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
14.

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

Chen S, Wang QL, Xu S, Liu I, Li LY, Wang Y, Zack DJ.

Hum Mol Genet. 2002 Apr 15;11(8):873-84.

15.

Visual improvement in Leber congenital amaurosis and the CRX genotype.

Koenekoop RK, Loyer M, Dembinska O, Beneish R.

Ophthalmic Genet. 2002 Mar;23(1):49-59.

PMID:
11910559
16.

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
18.

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.

19.

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.

20.

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S.

Nat Genet. 1994 Feb;6(2):210-3.

PMID:
8162077
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