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Results: 1 to 20 of 1245

Similar articles for PubMed (Select 18470323)

1.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P, Vogel M, Diaz JM, Romero MP, Herrera L.

Mol Vis. 2008 May 7;14:829-35.

2.

[Molecular genetic analysis and clinical phenotype of a pedigree with familial dominant drusen].

Zhang T, Xie X, Zeng Z, Meng D, Lu F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun 10;32(3):358-62. doi: 10.3760/cma.j.issn.1003-9406.2015.03.012. Chinese.

PMID:
26037350
3.

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies.

Song JS, Lim DH, Chung ES, Chung TY, Ki CS.

Ann Lab Med. 2015 May;35(3):336-40. doi: 10.3343/alm.2015.35.3.336. Epub 2015 Apr 1.

4.

Fibril Core of Transforming Growth Factor Beta-Induced Protein (TGFBIp) Facilitates Aggregation of Corneal TGFBIp.

Sørensen CS, Runager K, Scavenius C, Jensen MM, Nielsen NS, Christiansen G, Petersen SV, Karring H, Sanggaard KW, Enghild JJ.

Biochemistry. 2015 May 19;54(19):2943-56. doi: 10.1021/acs.biochem.5b00292. Epub 2015 May 6.

PMID:
25910219
5.

[Analyses of TGFBI gene mutation spectrum in four Chinese families with corneal dystrophy].

Zhang Y, Ying J, Zhou W, Zhu L, Cai J.

Zhonghua Yi Xue Za Zhi. 2015 Jan 13;95(2):116-9. Chinese.

PMID:
25876897
6.

Genes in dizygote twins with Bowman layer corneal dystrophy.

Hou YC, Hu FR, Wang IJ.

Optom Vis Sci. 2015 Apr;92(4 Suppl 1):S20-4. doi: 10.1097/OPX.0000000000000555.

PMID:
25785536
7.

Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia.

Gao Y, Chi L, Jin Y, Nan G.

Neural Regen Res. 2012 Jan 15;7(2):91-5. doi: 10.3969/j.issn.1673-5374.2012.02.002.

8.

Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome).

Huerva V, Soldevila J, Matias-Guiu X.

Med Hypothesis Discov Innov Ophthalmol. 2014 Fall;3(3):99-100. No abstract available.

9.

[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene].

Cao W, Zhang Y, Zhong C, Lu G, Tan Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):698-702. doi: 10.3760/cma.j.issn.1003-9406.2014.06.004. Chinese.

PMID:
25449070
10.

Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.

Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ.

Ann Hum Genet. 2015 Jan;79(1):1-9. doi: 10.1111/ahg.12090. Epub 2014 Dec 1.

PMID:
25441224
11.

Let this be lattice? Dendritiform erosion in lattice dystrophy type I, a source of confusion.

Vanlerberghe V, De Craene S, Kestelyn P.

Int Ophthalmol. 2014 Nov 29. [Epub ahead of print] No abstract available.

PMID:
25432880
12.

Lattice corneal dystrophy type IIIA with hyaline component from a novel A620P mutation and distinct surgical treatments.

Jung JW, Kim SA, Kang EM, Kim TI, Cho HS, Kim EK.

Cornea. 2014 Dec;33(12):1324-31. doi: 10.1097/ICO.0000000000000281.

PMID:
25321938
13.

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, Beuerman RW, Mehta JS.

Ocul Surf. 2014 Oct;12(4):234-51. doi: 10.1016/j.jtos.2013.12.002. Epub 2014 Jul 18. Review.

PMID:
25284770
14.

Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.

Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F.

Retina. 2014 Dec;34(12):2462-71. doi: 10.1097/IAE.0000000000000259.

PMID:
25111685
15.

Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.

Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ.

Ann Vasc Surg. 2014 Nov;28(8):1909-12. doi: 10.1016/j.avsg.2014.07.013. Epub 2014 Aug 7.

PMID:
25110237
16.

Lattice corneal dystrophy type 1: an epithelial or stromal entity?

Lisch W, Seitz B.

Cornea. 2014 Oct;33(10):1109-12. doi: 10.1097/ICO.0000000000000202.

PMID:
25055147
17.

Granular corneal dystrophy type 2 is associated with morphological abnormalities of meibomian glands.

Sakimoto T.

Br J Ophthalmol. 2015 Jan;99(1):26-8. doi: 10.1136/bjophthalmol-2014-305039. Epub 2014 Jul 17.

PMID:
25034048
18.

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Karolak JA, Polakowski P, Szaflik J, Szaflik JP, Gajecka M.

Ophthalmic Genet. 2014 Jun 18:1-7. [Epub ahead of print]

PMID:
24940934
19.

[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect].

Guo Y, Shen J, Li F, Wang J, Wang X, Guo A, Sun K.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):263-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.001. Chinese.

PMID:
24927998
20.

Spheroidal degeneration in H626R TGFBI variant lattice dystrophy: a multimodality analysis.

Lai K, Reidy J, Bert B, Milman T.

Cornea. 2014 Jul;33(7):726-32. doi: 10.1097/ICO.0000000000000140.

PMID:
24831201
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