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Items: 7


Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.

Drivas TG, Wojno AP, Tucker BA, Stone EM, Bennett J.

Sci Transl Med. 2015 Jun 10;7(291):291ra97. doi: 10.1126/scitranslmed.aaa5370.


The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice.

Wright CB, Chrenek MA, Feng W, Getz SE, Duncan T, Pardue MT, Feng Y, Redmond TM, Boatright JH, Nickerson JM.

Invest Ophthalmol Vis Sci. 2014 Apr 17;55(4):2500-15. doi: 10.1167/iovs.13-13574.


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.


Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH.

Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13.


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.


Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.

Tokgöz-Yılmaz S, Sahlı S, Fitoz S, Sennaroğlu G, Tekin M.

Int J Pediatr Otorhinolaryngol. 2011 Mar;75(3):433-7. doi: 10.1016/j.ijporl.2010.12.004. Epub 2011 Jan 3.


An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig.

Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J.

Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):5006-11. Epub 2006 Mar 20.

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