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Items: 16

1.

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.

2.

The ADAMTS(L) family and human genetic disorders.

Le Goff C, Cormier-Daire V.

Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31. Review.

PMID:
21880666
3.

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
4.

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
5.

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
6.

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M.

Eur J Hum Genet. 2010 Jul;18(7):761-7. doi: 10.1038/ejhg.2010.11. Epub 2010 Feb 24.

7.

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
8.

A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms.

Apte SS.

J Biol Chem. 2009 Nov 13;284(46):31493-7. doi: 10.1074/jbc.R109.052340. Epub 2009 Sep 4. Review.

9.

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.

10.

Functional and structural outcomes following lensectomy for ectopia lentis.

Wu-Chen WY, Letson RD, Summers CG.

J AAPOS. 2005 Aug;9(4):353-7.

PMID:
16102486
11.

Hereditary subluxated lenses: visual performances and long-term follow-up after surgery.

Anteby I, Isaac M, BenEzra D.

Ophthalmology. 2003 Jul;110(7):1344-8.

PMID:
12867389
12.

TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.

Buchner DA, Meisler MH.

Gene. 2003 Mar 27;307:23-30.

PMID:
12706885
14.

Congenital ectopia lentis. A Danish national survey.

Fuchs J, Rosenberg T.

Acta Ophthalmol Scand. 1998 Feb;76(1):20-6.

15.

Improvement in visual acuity in children with ectopia lentis.

Speedwell L, Russell-Eggitt I.

J Pediatr Ophthalmol Strabismus. 1995 Mar-Apr;32(2):94-7.

PMID:
7629677
16.

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