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Results: 1 to 20 of 138

1.

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
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.

PMID:
22128238
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

Sivadorai P, Cherninkova S, Bouwer S, Kamenarova K, Angelicheva D, Seeman P, Hollingsworth K, Mihaylova V, Oscar A, Dimitrova G, Kaneva R, Tournev I, Kalaydjieva L.

Clin Genet. 2008 Jul;74(1):82-7. doi: 10.1111/j.1399-0004.2008.01024.x. Epub 2008 Jun 5.

PMID:
18537981
[PubMed - indexed for MEDLINE]
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.

PMID:
23378721
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

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
7.

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
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
23218701
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Genetics of primary glaucoma.

Khan AO.

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

PMID:
21730848
[PubMed - indexed for MEDLINE]
12.

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
13.

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.

PMID:
20664688
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Tanwar M, Dada T, Sihota R, Dada R.

Mol Vis. 2009 Dec 30;15:2926-37.

PMID:
20057908
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ; Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG.

Mol Vis. 2013 Aug 4;19:1707-22. Print 2013.

PMID:
23922489
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
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.

PMID:
19597567
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E.

Am J Hum Genet. 2002 Feb;70(2):448-60. Epub 2002 Jan 3.

PMID:
11774072
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

Li N, Zhou Y, Du L, Wei M, Chen X.

Exp Eye Res. 2011 Nov;93(5):572-9. doi: 10.1016/j.exer.2011.07.009. Epub 2011 Aug 16. Review.

PMID:
21854771
[PubMed - indexed for MEDLINE]

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