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Items: 1 to 20 of 143

1.

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Sharafieh R, Child AH, Khaw PT, Fleck B, Sarfarazi M.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):14-20. doi: 10.3109/13816810.2012.716486. Epub 2012 Aug 27.

PMID:
22924778
2.

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.

3.

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL.

Am J Ophthalmol. 2013 Mar;155(3):508-517.e5. doi: 10.1016/j.ajo.2012.09.012. Epub 2012 Dec 4.

4.

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.

Mohanty K, Tanwar M, Dada R, Dada T.

Mol Vis. 2013;19:78-84. Epub 2013 Jan 17.

5.

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, López-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L.

Eur J Hum Genet. 2011 Mar;19(3):326-33. doi: 10.1038/ejhg.2010.181. Epub 2010 Nov 17.

6.

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.

7.

Null mutations in LTBP2 cause primary congenital glaucoma.

Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9.

8.

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
9.

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS.

Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9.

PMID:
21306220
10.

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

Panicker SG, Reddy AB, Mandal AK, Ahmed N, Nagarajaram HA, Hasnain SE, Balasubramanian D.

Invest Ophthalmol Vis Sci. 2002 May;43(5):1358-66.

PMID:
11980847
11.

Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.

Jelodari-Mamaghani S, Haji-Seyed-Javadi R, Suri F, Nilforushan N, Yazdani S, Kamyab K, Elahi E.

Mol Vis. 2013;19:333-47. Epub 2013 Feb 7.

12.

Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.

Narooie-Nejad M, Chitsazian F, Khoramian Tusi B, Mousavi F, Houshmand M, Rohani MR, Hosseinipour AS, Rismanchian A, Elahi E.

Mol Vis. 2009 Oct 22;15:2155-61.

13.

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R.

Mol Vis. 2007 Aug 27;13:1458-68.

PMID:
17893647
14.

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, Elahi E, Paisán-Ruiz C.

Hum Mol Genet. 2009 Oct 15;18(20):3969-77. doi: 10.1093/hmg/ddp338. Epub 2009 Aug 4.

15.

Genetics of primary glaucoma.

Khan AO.

Curr Opin Ophthalmol. 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2. Review.

PMID:
21730848
16.

Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

López-Garrido MP, Medina-Trillo C, Morales-Fernandez L, Garcia-Feijoo J, Martínez-de-la-Casa JM, García-Antón M, Escribano J.

Ophthalmology. 2013 Apr;120(4):716-23. doi: 10.1016/j.ophtha.2012.09.016. Epub 2012 Dec 4.

PMID:
23218183
17.

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.

18.

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
19.

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
20.

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal S, Ayub H, Zafar SN, Bakker B, Ali M, Akhtar F, Islam F, Khan MI, Qamar R, den Hollander AI.

Clin Experiment Ophthalmol. 2015 Jan-Feb;43(1):31-9. doi: 10.1111/ceo.12369. Epub 2014 Sep 23.

PMID:
25091052
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