265 related articles for article (PubMed ID: 12511349)
21. Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
Wu H; Che S; Li S; Cheng Y; Xiao J; Liu Z
Mol Genet Genomic Med; 2021 Oct; 9(10):e1781. PubMed ID: 34405586
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Autosomal dominant vitreoretinochoroidopathy.
Kaufman SJ; Goldberg MF; Orth DH; Fishman GA; Tessler H; Mizuno K
Arch Ophthalmol; 1982 Feb; 100(2):272-8. PubMed ID: 7065944
[TBL] [Abstract][Full Text] [Related]
25. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Miyamoto T; Inoue H; Sakamoto Y; Kudo E; Naito T; Mikawa T; Mikawa Y; Isashiki Y; Osabe D; Shinohara S; Shiota H; Itakura M
Invest Ophthalmol Vis Sci; 2005 Aug; 46(8):2726-35. PubMed ID: 16043844
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
Jiao X; Ritter R; Hejtmancik JF; Edwards AO
Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4498-503. PubMed ID: 15557460
[TBL] [Abstract][Full Text] [Related]
29. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP; Vereecke I; Dewinter C; Rosenberg T; Beemer FA; Leroy JG; Bendix L; Björck E; Bonduelle M; Boute O; Cormier-Daire V; De Die-Smulders C; Dieux-Coeslier A; Dollfus H; Elting M; Green A; Guerci VI; Hennekam RC; Hilhorts-Hofstee Y; Holder M; Hoyng C; Jones KJ; Josifova D; Kaitila I; Kjaergaard S; Kroes YH; Lagerstedt K; Lees M; Lemerrer M; Magnani C; Marcelis C; Martorell L; Mathieu M; McEntagart M; Mendicino A; Morton J; Orazio G; Paquis V; Reish O; Simola KO; Smithson SF; Temple KI; Van Aken E; Van Bever Y; van den Ende J; Van Hagen JM; Zelante L; Zordania R; De Paepe A; Leroy BP; De Buyzere M; Coucke PJ; Mortier GR
Eur J Hum Genet; 2010 Aug; 18(8):872-80. PubMed ID: 20179744
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.
Godley BF; Tiffin PA; Evans K; Kelsell RE; Hunt DM; Bird AC
Ophthalmology; 1996 Jun; 103(6):893-8. PubMed ID: 8643244
[TBL] [Abstract][Full Text] [Related]
33. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J; Paděrová J; Románková V; Havlovicová M; Balaščáková M; Zelinová M; Vejvalková Š; Simandlová M; Štěpánková J; Hořínová V; Kantorová E; Křečková G; Pospíšilová J; Boday A; Meszarosová AU; Turnovec M; Votýpka P; Lišková P; Kremlíková Pourová R
Ann Hum Genet; 2020 Sep; 84(5):380-392. PubMed ID: 32427345
[TBL] [Abstract][Full Text] [Related]
34. Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.
Ang A; Ung T; Puvanachandra N; Wilson L; Howard F; Ryalls M; Richards A; Meredith S; Laidlaw M; Poulson A; Scott J; Snead M
Am J Med Genet A; 2007 Mar; 143A(6):604-7. PubMed ID: 17318849
[TBL] [Abstract][Full Text] [Related]
35. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO; AlAbdi L; Patel N; Helaby R; Hashem M; Abdulwahab F; AlBadr FB; Alkuraya FS
Mol Genet Genomic Med; 2021 May; 9(5):e1628. PubMed ID: 33951325
[TBL] [Abstract][Full Text] [Related]
36. Stickler syndrome: an underdiagnosed disease. Report of a family.
De Keyzer TH; De Veuster I; Smets RM
Bull Soc Belge Ophtalmol; 2011; (318):45-9. PubMed ID: 22003765
[TBL] [Abstract][Full Text] [Related]
37. Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.
Suemori S; Sawada A; Shiraki I; Mochizuki K
Semin Ophthalmol; 2014 Jan; 29(1):45-7. PubMed ID: 24164106
[TBL] [Abstract][Full Text] [Related]
38. Stickler syndrome: clinical care and molecular genetics.
Parke DW
Am J Ophthalmol; 2002 Nov; 134(5):746-8. PubMed ID: 12429253
[No Abstract] [Full Text] [Related]
39. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
