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Items: 1 to 20 of 34

1.

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.

Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43.

PMID:
12939326
2.

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S.

Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. Review.

PMID:
12686304
3.

Clinical features of the congenital vitreoretinopathies.

Edwards AO.

Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Review.

PMID:
18309337
4.

Hereditary vitreopathy.

Snead MP.

Eye (Lond). 1996;10 ( Pt 6):653-63. Review.

PMID:
9091360
5.

The Stickler syndrome: case reports and literature review.

Bowling EL, Brown MD, Trundle TV.

Optometry. 2000 Mar;71(3):177-82. Review.

PMID:
10970261
6.

Molecular genetics of rhegmatogenous retinal detachment.

Richards AJ, Scott JD, Snead MP.

Eye (Lond). 2002 Jul;16(4):388-92. Review.

7.

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI.

Genet Med. 2003 Jan-Feb;5(1):21-7. Review. Erratum in: Genet Med. 2003 Nov-Dec;5(6):478.

PMID:
12544472
8.

Hearing impairment in Stickler syndrome: a systematic review.

Acke FR, Dhooge IJ, Malfait F, De Leenheer EM.

Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Review.

9.

Hearing impairment in Stickler syndrome.

Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL.

Adv Otorhinolaryngol. 2002;61:216-23. Review. No abstract available.

PMID:
12408087
10.

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ.

Am J Hum Genet. 1993 Jan;52(1):39-45. Review.

11.

The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).

Lewkonia RM.

J Rheumatol. 1992 Aug;19(8):1271-5. Review.

PMID:
1404165
12.

The role of heredity in retinal detachment.

Francois J.

Int Ophthalmol Clin. 1968 Winter;8(4):965-98. Review. No abstract available.

PMID:
4907159
13.

The Stickler syndrome (hereditary arthroophthalmopathy).

Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C.

Birth Defects Orig Artic Ser. 1975;11(2):76-103. Review. No abstract available.

PMID:
776247
14.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.

Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Review.

15.

Hereditary vitreoretinal diseases.

Neetens A.

Bull Soc Belge Ophtalmol. 1987;223 Pt 1:241-72. Review. No abstract available.

PMID:
3307967
16.

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR.

J Med Genet. 1999 May;36(5):353-9. Review.

17.

The Wagner-Stickler syndrome complex.

Godel V, Nemet P, Lazar M.

Doc Ophthalmol. 1981 Dec 16;52(2):179-88. Review.

PMID:
7035111
18.

Genetics and hearing loss: a review of Stickler syndrome.

Nowak CB.

J Commun Disord. 1998 Sep-Oct;31(5):437-53; 453-4. Review.

PMID:
9777489
19.
20.

Misdirected aqueous flow in rhegmatogenous retinal detachment: a pathophysiology update.

Tabibian D, Hoogewoud F, Mavrakanas N, Schutz JS.

Surv Ophthalmol. 2015 Jan-Feb;60(1):51-9. doi: 10.1016/j.survophthal.2014.07.002. Epub 2014 Aug 10. Review.

PMID:
25223495

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