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Links from PubMed

Items: 17

1.

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Gupta SK, Leonard BC, Damji KF, Bulman DE.

Am J Ophthalmol. 2002 Feb;133(2):203-10.

PMID:
11812423
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.

The Wagner-Stickler syndrome complex.

Godel V, Nemet P, Lazar M.

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

PMID:
7035111
4.

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
5.

Hereditary vitreopathy.

Snead MP.

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

PMID:
9091360
6.

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.

7.

Hereditary vitreoretinal diseases.

Neetens A.

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

PMID:
3307967
8.

Genetic approach to the nosology of retinal disorders.

Klein D.

Birth Defects Orig Artic Ser. 1971 Mar;7(3):52-82. Review.

PMID:
4950917
9.

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR.

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

10.

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
11.

[Two cases of Kniest dysplasia--ocular manifestations].

Kagotani Y, Takao K, Nomura K, Okubo K.

Nippon Ganka Gakkai Zasshi. 1995 Mar;99(3):376-83. Review. Japanese.

PMID:
7732932
12.

[Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France].

Puech B, Kostrubiec B, Hache JC, François P.

J Fr Ophtalmol. 1991;14(3):153-64. Review. French.

PMID:
1918822
13.

[What can we learn from molecular genetic analyses of inherited eye diseases?].

Yoshida S.

Nippon Ganka Gakkai Zasshi. 2006 Nov;110(11):898-913. Review. Japanese.

PMID:
17134037
14.

Stickler's syndrome.

Niffenegger JH, Topping TM, Mukai S.

Int Ophthalmol Clin. 1993 Spring;33(2):271-80. Review. No abstract available.

PMID:
8325740
15.

[Pathology of the vitreous body. Primary aspects and principles].

Daicker B.

Ophthalmologe. 1993 Oct;90(5):419-25. Review. German.

PMID:
8219624
16.

Mapping the eye diseases.

Frézal J, Kaplan J, Dollfus H.

Ophthalmic Paediatr Genet. 1992 Jun;13(2):37-47. Review.

PMID:
1495766
17.

The interplay of genetics and surgery in ophthalmic care.

Gorin MB.

Semin Ophthalmol. 1995 Dec;10(4):303-17. Review. No abstract available.

PMID:
10160217
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