278 related articles for article (PubMed ID: 8872475)
1. 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]
2. Hereditary vitreopathy.
Snead MP
Eye (Lond); 1996; 10 ( Pt 6)():653-63. PubMed ID: 9091360
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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. 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]
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. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
Richards AJ; Fincham GS; McNinch A; Hill D; Poulson AV; Castle B; Lees MM; Moore AT; Scott JD; Snead MP
J Med Genet; 2013 Nov; 50(11):765-71. PubMed ID: 23922384
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR; Malfait F; Vanakker OM; Steyaert W; De Leeneer K; Mortier G; Dhooge I; De Paepe A; De Leenheer EM; Coucke PJ
Mol Genet Metab; 2014 Nov; 113(3):230-5. PubMed ID: 25240749
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Vikkula M; Mariman EC; Lui VC; Zhidkova NI; Tiller GE; Goldring MB; van Beersum SE; de Waal Malefijt MC; van den Hoogen FH; Ropers HH
Cell; 1995 Feb; 80(3):431-7. PubMed ID: 7859284
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]