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Results: 1 to 20 of 50

1.

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.

PMID:
19361779
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
19656777
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
22128238
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
23378721
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M.

Eur J Hum Genet. 2010 Jul;18(7):761-7. doi: 10.1038/ejhg.2010.11. Epub 2010 Feb 24.

PMID:
20179738
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21081970
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Kaur K, Mandal AK, Chakrabarti S.

Middle East Afr J Ophthalmol. 2011 Jan;18(1):7-16. doi: 10.4103/0974-9233.75878.

PMID:
21572728
[PubMed]
Free PMC Article
9.

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.

PMID:
23401661
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Khan AO, Aldahmesh MA, Alkuraya FS.

Mol Vis. 2011;17:2570-9. Epub 2011 Oct 4.

PMID:
22025892
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH.

Hum Genet. 2010 Oct;128(4):365-71. doi: 10.1007/s00439-010-0858-8. Epub 2010 Jul 9.

PMID:
20617341
[PubMed - indexed for MEDLINE]
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.

PMID:
19898634
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Primary Congenital Glaucoma.

Abu-Amero KK, Edward DP.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2004 Sep 30 [updated 2014 Mar 20].

15.

Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma.

Lee JH, Ki CS, Kim HJ, Suh W, Lee ST, Kim JW, Kee C.

Mol Vis. 2011;17:3583-90. Epub 2011 Dec 31.

PMID:
22219654
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR.

Am J Hum Genet. 1998 Feb;62(2):325-33.

PMID:
9463332
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.

Plásilová M, Feráková E, Kádasi L, Poláková H, Gerinec A, Ott J, Ferák V.

Hum Hered. 1998 Jan-Feb;48(1):30-3.

PMID:
9463798
[PubMed - indexed for MEDLINE]
18.

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.

Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M.

Hum Mol Genet. 1996 Aug;5(8):1199-203.

PMID:
8842741
[PubMed - indexed for MEDLINE]
Free Article
19.

A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.

Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR.

J Glaucoma. 1996 Dec;5(6):416-21.

PMID:
8946299
[PubMed - indexed for MEDLINE]
20.

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M.

Am J Hum Genet. 1998 Mar;62(3):573-84.

PMID:
9497261
[PubMed - indexed for MEDLINE]
Free PMC Article
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