292 related articles for article (PubMed ID: 25240749)
1. 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]
2. 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]
3. Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
Iwasa Y; Moteki H; Hattori M; Sato R; Nishio SY; Takumi Y; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():111S-7S. PubMed ID: 25780254
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
Brizola E; Gnoli M; Tremosini M; Nucci P; Bargiacchi S; La Barbera A; Giglio S; Sangiorgi L
Mol Genet Genomic Med; 2020 Sep; 8(9):e1353. PubMed ID: 32558342
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.
Vogiatzi MG; Li D; Tian L; Garifallou JP; Kim CE; Hakonarson H; Levine MA
Osteoporos Int; 2018 Jan; 29(1):247-251. PubMed ID: 28971234
[TBL] [Abstract][Full Text] [Related]
8. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Nixon T; Richards AJ; Lomas A; Abbs S; Vasudevan P; McNinch A; Alexander P; Snead MP
Mol Genet Genomic Med; 2020 Sep; 8(9):e1354. PubMed ID: 32578940
[TBL] [Abstract][Full Text] [Related]
9. Novel and recurrent
Guo L; Elcioglu NH; Wang Z; Demirkol YK; Isguven P; Matsumoto N; Nishimura G; Miyake N; Ikegawa S
Hum Genome Var; 2017; 4():17040. PubMed ID: 28983407
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Exon-Trapping Assay Improves Clinical Interpretation of
Micale L; Morlino S; Schirizzi A; Agolini E; Nardella G; Fusco C; Castellana S; Guarnieri V; Villa R; Bedeschi MF; Grammatico P; Novelli A; Castori M
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33348901
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
van Beelen E; Leijendeckers JM; Huygen PL; Admiraal RJ; Hoefsloot LH; Lichtenbelt KD; Stöbe L; Pennings RJ; Leuwer R; Snik AF; Kunst HP
Hear Res; 2012 Sep; 291(1-2):15-23. PubMed ID: 22796475
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G; Snoeckx RL; Hilgert N; van den Ende J; Fukuoka H; Wagatsuma M; Suzuki H; Smets RM; Vanhoenacker F; Declau F; Van de Heyning P; Usami S
Am J Hum Genet; 2006 Sep; 79(3):449-57. PubMed ID: 16909383
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang L; Chen C; Wang Z; Sun L; Li S; Zhang T; Luo X; Ding X
Genes (Basel); 2020 Aug; 11(8):. PubMed ID: 32756486
[TBL] [Abstract][Full Text] [Related]
19. Hereditary vitreopathy.
Snead MP
Eye (Lond); 1996; 10 ( Pt 6)():653-63. PubMed ID: 9091360
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]