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Items: 1 to 20 of 162

1.

[A novel mutation of CYP1B1 gene in primary congenital glaucoma].

Huang JF, Zhou J, Wang H, Chen D, Zeng LP, Tong JB, Xia XB, Hu ZM.

Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):875-8. Chinese.

PMID:
20137445
2.

Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.

Chakrabarti S, Kaur K, Kaur I, Mandal AK, Parikh RS, Thomas R, Majumder PP.

Invest Ophthalmol Vis Sci. 2006 Jan;47(1):43-7.

PMID:
16384942
3.

Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.

Zenteno JC, Hernandez-Merino E, Mejia-Lopez H, Matías-Florentino M, Michel N, Elizondo-Olascoaga C, Korder-Ortega V, Casab-Rueda H, Garcia-Ortiz JE.

J Glaucoma. 2008 Apr-May;17(3):189-92. doi: 10.1097/IJG.0b013e31815678c3.

PMID:
18414103
4.

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.

5.

Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

Messina-Baas OM, González-Huerta LM, Chima-Galán C, Kofman-Alfaro SH, Rivera-Vega MR, Babayán-Mena I, Cuevas-Covarrubias SA.

Ophthalmic Res. 2007;39(1):17-23. Epub 2006 Dec 11.

PMID:
17164573
6.

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA, Al-Obeidan SA.

Mol Vis. 2011;17:2911-9. Epub 2011 Nov 12.

7.

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
8.

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B.

Hum Mutat. 2008 Sep;29(9):1147-53. doi: 10.1002/humu.20786.

PMID:
18470941
9.

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MA, Zareei R, Jabbarvand M, Abdolahi A, Lasheyee AR, Etemadi A, Bayat B, Sadeghi M, Banoei MM, Ghafarzadeh B, Rohani MR, Rismanchian A, Thorstenson Y, Sarfarazi M.

J Mol Diagn. 2007 Jul;9(3):382-93.

10.

[Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality].

Jiang FG, Liu XW, Hou HP.

Zhonghua Yan Ke Za Zhi. 2007 Sep;43(9):779-83. Chinese.

PMID:
18070520
11.

Molecular genetics of primary congenital glaucoma in Brazil.

Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7.

PMID:
12036985
12.

A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS.

J Glaucoma. 2007 Jan;16(1):104-11.

PMID:
17224759
13.

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

Alfadhli S, Behbehani A, Elshafey A, Abdelmoaty S, Al-Awadi S.

Am J Ophthalmol. 2006 Mar;141(3):512-6.

PMID:
16490498
14.

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

Campos-Mollo E, López-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martínez J, Ayuso C, Escribano J.

Mol Vis. 2009;15:417-31. Epub 2009 Feb 23.

15.

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR.

Hum Mol Genet. 2000 Feb 12;9(3):367-74. Erratum in: Hum Mol Genet 2000 Apr 12;9(7):1141.

PMID:
10655546
16.

Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R.

Mol Vis. 2009 Jun 13;15:1200-9.

17.

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.

Della Paolera M, de Vasconcellos JP, Umbelino CC, Kasahara N, Rocha MN, Richeti F, Costa VP, Tavares A, de Melo MB.

J Glaucoma. 2010 Mar;19(3):176-82. doi: 10.1097/IJG.0b013e3181a98bae.

PMID:
19528825
18.

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS, Kim YY, Kim CS, Park CK, Ki CS, Kee C.

Mol Vis. 2011;17:2093-101. Epub 2011 Aug 9.

19.

Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.

El-Gayar S, Ganesh A, Chavarria-Soley G, Al-Zuhaibi S, Al-Mjeni R, Raeburn S, Bialasiewicz AA.

Mol Vis. 2009 Jul 8;15:1325-31.

20.

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

Reddy AB, Kaur K, Mandal AK, Panicker SG, Thomas R, Hasnain SE, Balasubramanian D, Chakrabarti S.

Mol Vis. 2004 Sep 30;10:696-702.

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