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Items: 1 to 20 of 78

1.

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.

Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21.

PMID:
28341475
2.

Retinal capillaritis in a CRB1-associated retinal dystrophy.

Murro V, Mucciolo DP, Sodi A, Vannozzi L, De Libero C, Simonini G, Rizzo S.

Ophthalmic Genet. 2017 Dec;38(6):555-558. doi: 10.1080/13816810.2017.1281966. Epub 2017 Jan 27.

PMID:
28129017
3.

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.

Lu L, Wang X, Lo D, Weng J, Liu X, Yang J, He F, Wang Y, Liu X.

Oncotarget. 2016 Nov 29;7(48):79797-79804. doi: 10.18632/oncotarget.12971.

4.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281.

5.

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.

Graefes Arch Clin Exp Ophthalmol. 2016 Sep;254(9):1833-9. doi: 10.1007/s00417-016-3358-2. Epub 2016 Apr 25.

PMID:
27113771
6.

Isolated maculopathy associated with biallelic CRB1 mutations.

Shah N, Damani MR, Zhu XS, Bedoukian EC, Bennett J, Maguire AM, Leroy BP.

Ophthalmic Genet. 2017 Mar-Apr;38(2):190-193. doi: 10.3109/13816810.2016.1155225. Epub 2016 Apr 20. No abstract available.

PMID:
27096895
7.
8.

Atypical presentation of CRB1 retinopathy.

Morarji J, Lenassi E, Black GC, Ashworth JL.

Acta Ophthalmol. 2016 Sep;94(6):e513-4. doi: 10.1111/aos.12997. Epub 2016 Feb 23. No abstract available.

9.

CRB1-Related Maculopathy With Cystoid Macular Edema.

Wolfson Y, Applegate CD, Strauss RW, Han IC, Scholl HP.

JAMA Ophthalmol. 2015 Nov;133(11):1357-60. doi: 10.1001/jamaophthalmol.2015.2814. No abstract available.

PMID:
26312378
10.

Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.

Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Tsunoda K, Kusaka S, Shimomura Y, Iwata T.

Doc Ophthalmol. 2015 Feb;130(1):49-55. doi: 10.1007/s10633-014-9464-8. Epub 2014 Oct 17.

PMID:
25323024
11.

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R.

Ophthalmology. 2014 Sep;121(9):1773-82. doi: 10.1016/j.ophtha.2014.03.010. Epub 2014 May 6.

12.

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.

Li S, Shen T, Xiao X, Guo X, Zhang Q.

Int J Mol Med. 2014 Apr;33(4):913-8. doi: 10.3892/ijmm.2014.1655. Epub 2014 Feb 12.

PMID:
24535598
13.

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

Cordovez JA, Traboulsi EI, Capasso JE, Sadagopan KA, Ganesh A, Rychwalski PJ, Neely KA, Brodie SE, Levin AV.

Ophthalmic Genet. 2015;36(3):257-64. doi: 10.3109/13816810.2014.881505.

PMID:
24512366
14.

The CRB1 and adherens junction complex proteins in retinal development and maintenance.

Alves CH, Pellissier LP, Wijnholds J.

Prog Retin Eye Res. 2014 May;40:35-52. doi: 10.1016/j.preteyeres.2014.01.001. Epub 2014 Feb 6. Review.

PMID:
24508727
15.

CRB1: one gene, many phenotypes.

Ehrenberg M, Pierce EA, Cox GF, Fulton AB.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):397-405. doi: 10.3109/08820538.2013.825277. Review.

PMID:
24138049
16.

A case of CRB1-negative Coats-like retinitis pigmentosa.

Sarao V, Veritti D, Prosperi R, Pignatto S, Lanzetta P.

J AAPOS. 2013 Aug;17(4):414-6. doi: 10.1016/j.jaapos.2013.02.010. Epub 2013 Jul 18.

PMID:
23871396
17.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF.

Mol Vis. 2013 Apr 5;19:829-34. Print 2013.

18.

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419.

PMID:
23449718
19.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C.

Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20.

20.

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Mégarbané A.

Ophthalmic Genet. 2014 Mar;35(1):57-62. doi: 10.3109/13816810.2013.763995. Epub 2013 Jan 30.

PMID:
23362850

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