These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
419 related articles for article (PubMed ID: 20513134)
1. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Richards AJ; McNinch A; Martin H; Oakhill K; Rai H; Waller S; Treacy B; Whittaker J; Meredith S; Poulson A; Snead MP Hum Mutat; 2010 Jun; 31(6):E1461-71. PubMed ID: 20513134 [TBL] [Abstract][Full Text] [Related]
2. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Richards AJ; Laidlaw M; Whittaker J; Treacy B; Rai H; Bearcroft P; Baguley DM; Poulson A; Ang A; Scott JD; Snead MP Hum Mutat; 2006 Jul; 27(7):696-704. PubMed ID: 16752401 [TBL] [Abstract][Full Text] [Related]
3. Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. Martin S; Richards AJ; Yates JR; Scott JD; Pope M; Snead MP Eur J Hum Genet; 1999; 7(7):807-14. PubMed ID: 10573014 [TBL] [Abstract][Full Text] [Related]
5. Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. Parentin F; Sangalli A; Mottes M; Perissutti P Graefes Arch Clin Exp Ophthalmol; 2001 Apr; 239(4):316-9. PubMed ID: 11450497 [TBL] [Abstract][Full Text] [Related]
6. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Van Der Hout AH; Verlind E; Beemer FA; Buys CH; Hofstra RM; Scheffer H Hum Mutat; 2002 Sep; 20(3):236. PubMed ID: 12204008 [TBL] [Abstract][Full Text] [Related]
7. Correlation of linkage data with phenotype in eight families with Stickler syndrome. Wilkin DJ; Mortier GR; Johnson CL; Jones MC; de Paepe A; Shohat M; Wildin RS; Falk RE; Cohn DH Am J Med Genet; 1998 Nov; 80(2):121-7. PubMed ID: 9805127 [TBL] [Abstract][Full Text] [Related]
8. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Richards AJ; Meredith S; Poulson A; Bearcroft P; Crossland G; Baguley DM; Scott JD; Snead MP Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):663-8. PubMed ID: 15671297 [TBL] [Abstract][Full Text] [Related]
9. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Lisi V; Guala A; Lopez A; Vitali M; Spadoni E; Olivieri C; Danesino C; Mottes M Genet Couns; 2002; 13(2):163-70. PubMed ID: 12150217 [TBL] [Abstract][Full Text] [Related]
10. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Wang X; Jia X; Xiao X; Li S; Li J; Li Y; Wei Y; Liang X; Guo X Mol Vis; 2016; 22():697-704. PubMed ID: 27390512 [TBL] [Abstract][Full Text] [Related]
11. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. Vu CD; Brown J; Körkkö J; Ritter R; Edwards AO Ophthalmology; 2003 Jan; 110(1):70-7. PubMed ID: 12511349 [TBL] [Abstract][Full Text] [Related]
12. Phenotypic characterization of patients with early-onset high myopia due to mutations in Zhou L; Xiao X; Li S; Jia X; Wang P; Sun W; Zhang F; Li J; Li T; Zhang Q Mol Vis; 2018; 24():560-573. PubMed ID: 30181686 [TBL] [Abstract][Full Text] [Related]
13. A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1). Kaarniranta K; Ihanamäki T; Sahlman J; Pulkkinen H; Uusitalo H; Arita M; Tammi R; Lammi MJ; Helminen HJ Exp Eye Res; 2006 Aug; 83(2):297-303. PubMed ID: 16546167 [TBL] [Abstract][Full Text] [Related]
14. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. McAlinden A; Majava M; Bishop PN; Perveen R; Black GC; Pierpont ME; Ala-Kokko L; Männikkö M Hum Mutat; 2008 Jan; 29(1):83-90. PubMed ID: 17721977 [TBL] [Abstract][Full Text] [Related]
15. Snowflake vitreoretinal degeneration: follow-up of the original family. Lee MM; Ritter R; Hirose T; Vu CD; Edwards AO Ophthalmology; 2003 Dec; 110(12):2418-26. PubMed ID: 14644728 [TBL] [Abstract][Full Text] [Related]
16. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Richards AJ; Baguley DM; Yates JR; Lane C; Nicol M; Harper PS; Scott JD; Snead MP Am J Hum Genet; 2000 Nov; 67(5):1083-94. PubMed ID: 11007540 [TBL] [Abstract][Full Text] [Related]
17. Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. Richards AJ; Laidlaw M; Meredith SP; Shankar P; Poulson AV; Scott JD; Snead MP Hum Mutat; 2007 Jun; 28(6):639. PubMed ID: 17437277 [TBL] [Abstract][Full Text] [Related]
18. Clinical features of the congenital vitreoretinopathies. Edwards AO Eye (Lond); 2008 Oct; 22(10):1233-42. PubMed ID: 18309337 [TBL] [Abstract][Full Text] [Related]
19. Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Olavarrieta L; Morales-Angulo C; del Castillo I; Moreno F; Moreno-Pelayo MA Clin Genet; 2008 Mar; 73(3):262-7. PubMed ID: 18177466 [TBL] [Abstract][Full Text] [Related]
20. Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Freddi S; Savarirayan R; Bateman JF Am J Med Genet; 2000 Feb; 90(5):398-406. PubMed ID: 10706362 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]