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Results: 1 to 20 of 163

1.

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.

Greene VB, Stoetzel C, Pelletier V, Perdomo-Trujillo Y, Liebermann L, Marion V, De Korvin H, Boileau C, Dufier JL, Dollfus H.

Ophthalmic Genet. 2010 Mar;31(1):47-51. doi: 10.3109/13816810903567604.

PMID:
20141359
[PubMed - indexed for MEDLINE]
2.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H.

Am J Hum Genet. 2009 Feb;84(2):274-8. doi: 10.1016/j.ajhg.2009.01.007. Epub 2009 Feb 5.

PMID:
19200529
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G.

Hum Mutat. 2010 Aug;31(8):E1622-31. doi: 10.1002/humu.21305.

PMID:
20564469
[PubMed - indexed for MEDLINE]
4.

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.

Sharifi Y, Tjon-Fo-Sang MJ, Cruysberg JR, Maat-Kievit AJ.

Br J Ophthalmol. 2013 May;97(5):583-7. doi: 10.1136/bjophthalmol-2012-302367. Epub 2013 Feb 20.

PMID:
23426735
[PubMed - indexed for MEDLINE]
5.

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.

Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E.

Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6369-73. doi: 10.1167/iovs.10-5597. Epub 2010 Aug 11.

PMID:
20702823
[PubMed - indexed for MEDLINE]
Free Article
6.

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A.

Invest Ophthalmol Vis Sci. 2011 Feb 3;52(2):695-700. doi: 10.1167/iovs.10-5740.

PMID:
21051722
[PubMed - indexed for MEDLINE]
Free Article
7.

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G.

Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874.

PMID:
22736615
[PubMed - indexed for MEDLINE]
Free Article
8.

Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.

Haddad R, Uwaydat S, Dakroub R, Traboulsi EI.

Am J Med Genet. 2001 Mar 15;99(3):185-9.

PMID:
11241487
[PubMed - indexed for MEDLINE]
9.

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
10.

Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae.

Meire FM.

Bull Soc Belge Ophtalmol. 1991;241:25-36.

PMID:
1840993
[PubMed - indexed for MEDLINE]
11.

Autosomal recessive ectopia lentis in two Arab family pedigrees.

al-Salem M.

Ophthalmic Paediatr Genet. 1990 Jun;11(2):123-7.

PMID:
2377351
[PubMed - indexed for MEDLINE]
12.

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):78-82. doi: 10.3109/13816810.2012.710707. Epub 2012 Aug 7.

PMID:
22871183
[PubMed - indexed for MEDLINE]
13.

Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait.

Bjerrum K, Kessing SV.

Acta Ophthalmol (Copenh). 1991 Oct;69(5):630-4.

PMID:
1776417
[PubMed - indexed for MEDLINE]
14.

ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.

Gabriel LA, Wang LW, Bader H, Ho JC, Majors AK, Hollyfield JG, Traboulsi EI, Apte SS.

Invest Ophthalmol Vis Sci. 2012 Jan 31;53(1):461-9. doi: 10.1167/iovs.10-5955.

PMID:
21989719
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K.

Mol Vis. 2007 Oct 25;13:2035-40.

PMID:
18079676
[PubMed - indexed for MEDLINE]
Free Article
16.

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.

Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.

PMID:
19836009
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Familial simple ectopia lentis. A probable autosomal recessive form.

Ruiz C, Rivas F, Villar-Calvo VM, Serrano-Lucas JI, Cantú JM.

Ophthalmic Paediatr Genet. 1986 Aug;7(2):81-4.

PMID:
3491351
[PubMed - indexed for MEDLINE]
18.

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Kaul H, Riazuddin SA, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Arch Ophthalmol. 2010 Aug;128(8):1046-9. doi: 10.1001/archophthalmol.2010.165.

PMID:
20697006
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Ectopia lentis phenotypes and the FBN1 gene.

Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B.

Am J Med Genet A. 2004 Apr 30;126A(3):284-9. Review.

PMID:
15054843
[PubMed - indexed for MEDLINE]
20.

The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus.

Li D, Yu J, Gu F, Pang X, Ma X, Li R, Liu N, Ma X.

Genet Test. 2008 Jun;12(2):325-30. doi: 10.1089/gte.2008.0002.

PMID:
18471089
[PubMed - indexed for MEDLINE]
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