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Items: 1 to 20 of 96

1.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM.

Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):346.

2.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, B├╝rer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C.

Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26.

3.

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC.

Orphanet J Rare Dis. 2015 Nov 11;10:145. doi: 10.1186/s13023-015-0360-4.

4.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE.

Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3.

5.

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC.

Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Review.

6.

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Micheal S, Khan MI, Islam F, Akhtar F, Qamar R, Tassignon MJ, Loeys B, den Hollander AI.

Cornea. 2016 Jun;35(6):853-9. doi: 10.1097/ICO.0000000000000824.

PMID:
27032025
7.

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS.

Gene. 2012 Dec 15;511(2):447-50. doi: 10.1016/j.gene.2012.09.022. Epub 2012 Sep 23.

PMID:
23010198
8.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ.

Invest Ophthalmol Vis Sci. 2015 Jan 6;56(1):578-86. doi: 10.1167/iovs.14-15792.

PMID:
25564447
9.

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E.

Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1.

10.

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Porter LF, Galli GG, Williamson S, Selley J, Knight D, Elcioglu N, Aydin A, Elcioglu M, Venselaar H, Lund AH, Bonshek R, Black GC, Manson FD.

Hum Mol Genet. 2015 Dec 1;24(23):6565-79. doi: 10.1093/hmg/ddv345. Epub 2015 Sep 22.

11.

Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.

Swierkowska J, Gajecka M.

Ophthalmic Genet. 2017 Dec;38(6):501-510. doi: 10.1080/13816810.2017.1313993. Epub 2017 Apr 28. Review.

PMID:
28453375
12.

Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

Ramappa M, Wilson ME, Rogers RC, Trivedi RH.

J AAPOS. 2014 Oct;18(5):509-11. doi: 10.1016/j.jaapos.2014.06.013. Epub 2014 Sep 27.

PMID:
25266838
13.

Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B.

Am J Med Genet A. 2004 Jan 1;124A(1):28-34. Review.

PMID:
14679583
14.

A novel mutation in PRDM5 in brittle cornea syndrome.

Aldahmesh MA, Mohamed JY, Alkuraya FS.

Clin Genet. 2012 Feb;81(2):198-9. doi: 10.1111/j.1399-0004.2011.01808.x. Epub 2011 Nov 29. No abstract available.

PMID:
22122778
15.

Corneal Cross-Linking for Brittle Cornea Syndrome.

Kaufmann C, Schubiger G, Thiel MA.

Cornea. 2015 Oct;34(10):1326-8. doi: 10.1097/ICO.0000000000000577.

PMID:
26266434
16.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Micheal S, Siddiqui SN, Zafar SN, Venselaar H, Qamar R, Khan MI, den Hollander AI.

Neurogenetics. 2016 Jan;17(1):17-23. doi: 10.1007/s10048-015-0462-0. Epub 2015 Oct 21.

17.

Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.

Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(9):5629-35. doi: 10.1167/iovs.14-14532.

PMID:
25097247
18.

Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.

Avgitidou G, Siebelmann S, Bachmann B, Kohlhase J, Heindl LM, Cursiefen C.

Case Rep Ophthalmol Med. 2015;2015:637084. doi: 10.1155/2015/637084. Epub 2015 Jun 29.

19.

Unusual case of globe perforation: the brittle cornea without systemic manifestations.

Joshi SA, Uppapalli S, More P, Deshpande M.

BMJ Case Rep. 2016 Oct 7;2016. pii: bcr2016215722. doi: 10.1136/bcr-2016-215722.

PMID:
27758814
20.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J.

N Engl J Med. 2001 Oct 18;345(16):1167-75.

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