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Items: 1 to 20 of 171

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
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.

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
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
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
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
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
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
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
11.

Autosomal recessive ectopia lentis in two Arab family pedigrees.

al-Salem M.

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

PMID:
2377351
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
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
14.

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

Neuhann TM, Stegerer A, Riess A, Blair E, Martin T, Wieser S, Kläs R, Bouman A, Kuechler A, Rittinger O.

Am J Med Genet A. 2015 Oct;167A(10):2376-81. doi: 10.1002/ajmg.a.37157. Epub 2015 May 14.

PMID:
25975359
15.

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.

16.

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
17.

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.

18.

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
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
20.

Genetics of ectopia lentis.

Sadiq MA, Vanderveen D.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Review.

PMID:
24138040
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