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.
283 related articles for article (PubMed ID: 16752401)
1. 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]
2. 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]
3. 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]
4. 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. 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]
6. 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]
7. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Williams CJ; Ganguly A; Considine E; McCarron S; Prockop DJ; Walsh-Vockley C; Michels VV Am J Med Genet; 1996 Jun; 63(3):461-7. PubMed ID: 8737653 [TBL] [Abstract][Full Text] [Related]
8. 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]
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. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Donoso LA; Edwards AO; Frost AT; Ritter R; Ahmad N; Vrabec T; Rogers J; Meyer D; Parma S Surv Ophthalmol; 2003; 48(2):191-203. PubMed ID: 12686304 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe. MacRae ME; Patel DV; Richards AJ; Snead MP; Tolmie J; Lee WR Eye (Lond); 2006 Sep; 20(9):1061-7. PubMed ID: 16327798 [TBL] [Abstract][Full Text] [Related]
16. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Richards AJ; Martin S; Yates JR; Scott JD; Baguley DM; Pope FM; Snead MP Br J Ophthalmol; 2000 Apr; 84(4):364-71. PubMed ID: 10729292 [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 evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. Zechi-Ceide RM; Jesus Oliveira NA; Guion-Almeida ML; Antunes LF; Richieri-Costa A; Passos-Bueno MR Eur J Med Genet; 2008; 51(3):183-96. PubMed ID: 18276201 [TBL] [Abstract][Full Text] [Related]
19. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Parma ES; Körkkö J; Hagler WS; Ala-Kokko L Am J Ophthalmol; 2002 Nov; 134(5):728-34. PubMed ID: 12429250 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]