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Items: 13

1.

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.

Couchouron T, Masson C.

Joint Bone Spine. 2011 Jan;78(1):45-9. doi: 10.1016/j.jbspin.2010.03.012. Epub 2010 May 11. Review.

PMID:
20462780
2.

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR.

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

3.

The Stickler syndrome: case reports and literature review.

Bowling EL, Brown MD, Trundle TV.

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

PMID:
10970261
4.

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.

5.

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.

6.

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
7.

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
8.

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

Löppönen T, Körkkö J, Lundan T, Seppänen U, Ignatius J, Kääriäinen H.

Arthritis Rheum. 2004 Dec 15;51(6):925-32. Review.

9.

Focus on the physical assessment of the infant with Stickler syndrome.

Lansford M.

Adv Neonatal Care. 2008 Dec;8(6):308-14. doi: 10.1097/01.ANC.0000342763.64240.69. Review.

PMID:
19060576
10.

[Microphthalmos in Pierre Robin syndrome. Clinical and x-ray computed tomographic study].

Girard B, Topouzis F, Saraux H.

Bull Soc Ophtalmol Fr. 1989 Dec;89(12):1385-90, 1392. Review. French.

PMID:
2698774
11.

Genetics of the pediatric glaucomas.

Girgis N, Chen TC.

Int Ophthalmol Clin. 2011 Summer;51(3):107-17. doi: 10.1097/IIO.0b013e31821e538b. Review. No abstract available.

PMID:
21633242
12.

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
13.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

Desir J, Abramowicz M.

Orphanet J Rare Dis. 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. Review.

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