218 related articles for article (PubMed ID: 2896625)
1. 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]
2. 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]
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. 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]
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. Prenatal exclusion of Stickler syndrome.
Zlotogora J; Granat M; Knowlton RG
Prenat Diagn; 1994 Feb; 14(2):145-7. PubMed ID: 7910400
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
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. 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]
15. 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]
16. Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.
Priestley L; Kumar D; Sykes B
Hum Genet; 1990 Oct; 85(5):525-6. PubMed ID: 1977683
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical and Molecular genetics of Stickler syndrome.
Snead MP; Yates JR
J Med Genet; 1999 May; 36(5):353-9. PubMed ID: 10353778
[TBL] [Abstract][Full Text] [Related]
19. Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
Sher C; Ramesar R; Martell R; Learmonth I; Tsipouras P; Beighton P
Am J Hum Genet; 1991 Mar; 48(3):518-24. PubMed ID: 1671807
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
