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Items: 1 to 20 of 149

1.

Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.

Su CC, Liu YF, Li SY, Yang JJ, Yen YC.

Eye (Lond). 2012 Oct;26(10):1369-77. doi: 10.1038/eye.2012.159. Epub 2012 Aug 10.

2.
3.

Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma.

Suri F, Yazdani S, Narooie-Nejhad M, Zargar SJ, Paylakhi SH, Zeinali S, Pakravan M, Elahi E.

Ophthalmology. 2009 Nov;116(11):2101-9. doi: 10.1016/j.ophtha.2009.04.045. Epub 2009 Sep 10.

PMID:
19744731
4.
5.

Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.

Suri F, Kalhor R, Zargar SJ, Nilforooshan N, Yazdani S, Nezari H, Paylakhi SH, Narooie-Nejhad M, Bayat B, Sedaghati T, Ahmadian A, Elahi E.

Mol Vis. 2008;14:2349-56. Epub 2008 Dec 18.

6.

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K.

Mol Vis. 2006 Apr 20;12:399-404.

7.

Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.

Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK.

Mol Vis. 2007 Apr 30;13:667-76.

8.

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

Melki R, Colomb E, Lefort N, Brézin AP, Garchon HJ.

J Med Genet. 2004 Sep;41(9):647-51.

9.

Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Fuse N, Miyazawa A, Takahashi K, Noro M, Nakazawa T, Nishida K.

Jpn J Ophthalmol. 2010 Jan;54(1):1-6. doi: 10.1007/s10384-009-0769-1. Epub 2010 Feb 12.

PMID:
20151268
10.

Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.

Mol Vis. 2010 Jul 2;16:1215-26.

11.

Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes.

Chakrabarti S, Devi KR, Komatireddy S, Kaur K, Parikh RS, Mandal AK, Chandrasekhar G, Thomas R.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5439-44.

PMID:
18055790
12.

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A.

Invest Ophthalmol Vis Sci. 2010 Jan;51(1):249-54. doi: 10.1167/iovs.09-3880. Epub 2009 Jul 30.

PMID:
19643970
13.
14.

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

López-Garrido MP, Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Chaqués-Alepuz V, Campos-Mollo E, Salinas-Sánchez AS, Escribano J.

Clin Genet. 2010 Jan;77(1):70-8. doi: 10.1111/j.1399-0004.2009.01284.x. Epub 2009 Sep 29.

PMID:
19793111
15.

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE.

Am J Ophthalmol. 2000 Aug;130(2):165-77.

PMID:
11004290
16.

The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.

Waryah AM, Narsani AK, Sheikh SA, Shaikh H, Shahani MY.

Gene. 2013 Oct 10;528(2):356-9. doi: 10.1016/j.gene.2013.07.016. Epub 2013 Jul 23.

PMID:
23886590
17.

Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.

Gupta V, Somarajan BI, Walia GK, Kaur J, Kumar S, Gupta S, Chaurasia AK, Gupta D, Kaushik A, Mehta A, Gupta V, Sharma A.

Graefes Arch Clin Exp Ophthalmol. 2018 Feb;256(2):355-362. doi: 10.1007/s00417-017-3853-0. Epub 2017 Nov 22.

PMID:
29168043
18.

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, Smith JE, Ruddle JB, Elder JE, Mackey DA, Hewitt AW, Healey PR, Goldberg I, Morgan WH, Landers J, Dubowsky A, Burdon KP, Craig JE.

JAMA Ophthalmol. 2015 Jul;133(7):826-33. doi: 10.1001/jamaophthalmol.2015.0980.

PMID:
25950505
19.

Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, Miyata H, Aihara M, Tanihara H, Inatani M, Azuma N, Iwata T, Araie M.

Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2211-6. Erratum in: Invest Ophthalmol Vis Sci 2001 Nov;42(12):2775.

PMID:
11527932
20.

A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Cai SP, Muhemaiti P, Yin Y, Cheng H, Di Ya A, Keyimu M, Cao X, Fan N, Jiang L, Yan N, Zhou X, Wang Y, Liu X.

Mol Vis. 2012;18:1944-51. Epub 2012 Jul 18.

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