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.
2. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Francomano CA; Liberfarb RM; Hirose T; Maumenee IH; Streeten EA; Meyers DA; Pyeritz RE Genomics; 1987 Dec; 1(4):293-6. PubMed ID: 2896625 [TBL] [Abstract][Full Text] [Related]
3. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Knowlton RG; Weaver EJ; Struyk AF; Knobloch WH; King RA; Norris K; Shamban A; Uitto J; Jimenez SA; Prockop DJ Am J Hum Genet; 1989 Nov; 45(5):681-8. PubMed ID: 2573273 [TBL] [Abstract][Full Text] [Related]
4. A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome. Sun W; Xiao X; Li S; Jia X; Zhang Q Ophthalmic Physiol Opt; 2020 May; 40(3):281-288. PubMed ID: 32196734 [TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Go SL; Maugeri A; Mulder JJ; van Driel MA; Cremers FP; Hoyng CB Invest Ophthalmol Vis Sci; 2003 Sep; 44(9):4035-43. PubMed ID: 12939326 [TBL] [Abstract][Full Text] [Related]
6. 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]
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. 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]
9. 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]
10. 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]
11. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Ballo R; Beighton PH; Ramesar RS Am J Med Genet; 1998 Oct; 80(1):6-11. PubMed ID: 9800905 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. Bonaventure J; Philippe C; Plessis G; Vigneron J; Lasselin C; Maroteaux P; Gilgenkrantz S Hum Genet; 1992; 90(1-2):164-8. PubMed ID: 1358786 [TBL] [Abstract][Full Text] [Related]
14. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Brunner HG; van Beersum SE; Warman ML; Olsen BR; Ropers HH; Mariman EC Hum Mol Genet; 1994 Sep; 3(9):1561-4. PubMed ID: 7833911 [TBL] [Abstract][Full Text] [Related]
15. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. Sirko-Osadsa DA; Murray MA; Scott JA; Lavery MA; Warman ML; Robin NH J Pediatr; 1998 Feb; 132(2):368-71. PubMed ID: 9506662 [TBL] [Abstract][Full Text] [Related]
16. The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Francomano CA; Liberfarb RM; Hirose T; Maumenee IH; Streeten EA; Meyers DA; Pyeritz RE Pathol Immunopathol Res; 1988; 7(1-2):104-6. PubMed ID: 3222200 [No Abstract] [Full Text] [Related]
17. Variability of Stickler syndrome. Zlotogora J; Sagi M; Schuper A; Leiba H; Merin S Am J Med Genet; 1992 Feb; 42(3):337-9. PubMed ID: 1536174 [TBL] [Abstract][Full Text] [Related]
18. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Richards AJ; Yates JR; Williams R; Payne SJ; Pope FM; Scott JD; Snead MP Hum Mol Genet; 1996 Sep; 5(9):1339-43. PubMed ID: 8872475 [TBL] [Abstract][Full Text] [Related]
19. Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. Tompson SW; Johnson C; Abbott D; Bakall B; Soler V; Yanovitch TL; Whisenhunt KN; Klemm T; Rozen S; Stone EM; Johnson M; Young TL Ophthalmic Genet; 2017; 38(1):43-50. PubMed ID: 28095098 [TBL] [Abstract][Full Text] [Related]