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Items: 1 to 20 of 173

1.

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
2.

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.

Ophthalmic Genet. 2006 Mar;27(1):15-20.

PMID:
16543197
3.

Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

Yang L, Wu L, Yin X, Chen N, Li G, Ma Z.

Mol Vis. 2014 Mar 26;20:359-67. eCollection 2014.

4.
5.

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
6.

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
7.

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

Zenteno JC, Buentello-Volante B, Ayala-Ramirez R, Villanueva-Mendoza C.

Am J Med Genet A. 2011 May;155A(5):1001-6. doi: 10.1002/ajmg.a.33862. Epub 2011 Apr 11.

PMID:
21484995
8.

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Review.

9.

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI.

Mol Vis. 2012;18:2447-53. Epub 2012 Oct 4.

10.

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.

11.

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.

12.

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT.

Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17.

PMID:
20956273
13.

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP.

Hum Mutat. 2004 Nov;24(5):355-69. Review.

PMID:
15459956
14.

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.

J Med Genet. 2005 Nov;42(11):e67.

15.

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3736-44.

PMID:
16936081
16.

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
17.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
18.

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP.

Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76.

PMID:
16505055
19.

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.

Pellissier LP, Lundvig DM, Tanimoto N, Klooster J, Vos RM, Richard F, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J.

Hum Mol Genet. 2014 Jul 15;23(14):3759-71. doi: 10.1093/hmg/ddu089. Epub 2014 Feb 23.

PMID:
24565864
20.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.

Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18.

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