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Items: 1 to 20 of 92

1.

Familial acorea, microphthalmia and cataract syndrome.

Kondo H, Tahira T, Yamamoto K, Tawara A.

Br J Ophthalmol. 2013 Sep;97(9):1155-60. doi: 10.1136/bjophthalmol-2013-303165. Epub 2013 Jul 5.

PMID:
23832966
2.

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

Müllner-Eidenböck A, Moser E, Klebermass N, Amon M, Walter MC, Lochmüller H, Gooding R, Kalaydjieva L.

Ophthalmology. 2004 Jul;111(7):1415-23.

PMID:
15234148
3.

Dense cataract and microphthalmia--new spontaneous mutation in BALB/c mice.

Kohale K, Ingle A, Kelkar A, Parab P.

Comp Med. 2004 Jun;54(3):275-9.

PMID:
15253273
4.

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.

Am J Ophthalmol. 2000 Feb;129(2):159-65.

PMID:
10682967
5.

Genetical and histological studies on a mouse displaying microphthalmia and cataract.

Takeuchi IK, Takeuchi YK.

Jikken Dobutsu. 1988 Oct;37(4):413-9.

PMID:
3240780
6.

Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.

Puk O, Ahmad N, Wagner S, de Angelis MH, Graw J.

Mol Vis. 2011;17:1164-71. Epub 2011 May 4.

7.

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:890-900.

8.

Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.

Wang B, Wang KJ, Zhu SQ, Wang J, Ma X.

Ophthalmic Genet. 2012 Sep;33(3):134-8. doi: 10.3109/13816810.2011.642451. Epub 2012 Jan 4.

PMID:
22216983
9.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H.

Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8. Epub 2009 Jun 14.

PMID:
19526372
10.
11.

Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.

Schmidt D, Shin YS, Auw-Haedrich C, Tacke U.

Acta Ophthalmol. 2011 Aug;89(5):489-94. doi: 10.1111/j.1755-3768.2009.01691.x. Epub 2010 Mar 10.

12.

An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.

Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS.

Mol Vis. 2009 Jun 4;15:1127-38.

13.
14.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

PMID:
16565358
15.

Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.

Liska F, Chylíková B, Martínek J, Kren V.

Mol Vis. 2008 May 7;14:823-8.

16.

Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.

Li FF, Yang M, Ma X, Zhang Q, Zhang M, Wang SZ, Zhu SQ.

Curr Eye Res. 2010 Jun;35(6):492-8. doi: 10.3109/02713681003624901.

PMID:
20465443
17.

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L.

Arch Ophthalmol. 2007 Feb;125(2):213-6.

PMID:
17296897
18.

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, Toomes C, Metlapally R, Li YJ, Tran-Viet KN, Malecaze F, Calvas P, Rosenberg T, Guggenheim JA, Young TL.

Mol Vis. 2011;17:2118-28. Epub 2011 Aug 10.

19.

[Juvenile cataract associated with microcornea and glucosuria: a new syndrome].

Vandekerckhove K, Lange AP, Herzog D, Schipper I.

Klin Monbl Augenheilkd. 2007 Apr;224(4):344-6. German.

PMID:
17458810
20.

Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus.

Bakthavachalu B, Kalanke S, Galande S, Ramanamurthy B, Parab P, Kohale KN, Seshadri V.

J Genet. 2010 Aug;89(2):147-54.

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