BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

363 related articles for article (PubMed ID: 30130436)

  • 1. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
    Wubben TJ; Branham KH; Besirli CG; Bohnsack BL
    Ophthalmic Genet; 2018 Oct; 39(5):615-618. PubMed ID: 30130436
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB; La Cour M; Kessel L
    Ophthalmic Genet; 2020 Jun; 41(3):223-234. PubMed ID: 32316871
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
    Choi SI; Woo SJ; Oh BL; Han J; Lim HT; Lee BJ; Joo K; Park JY; Jang JH; So MK; Kim SJ
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680973
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
    Yoon JM; Jang MA; Ki CS; Kim SJ
    Ann Lab Med; 2016 Mar; 36(2):166-9. PubMed ID: 26709265
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Autosomal recessive Stickler syndrome associated with homozygous mutations in the
    Kjellström U; Martell S; Brobeck C; Andréasson S
    Ophthalmic Genet; 2021 Apr; 42(2):161-169. PubMed ID: 33356723
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Radiographic and tomographic analysis in patients with stickler syndrome type I.
    Al Kaissi A; Chehida FB; Ganger R; Kenis V; Zandieh S; Hofstaetter JG; Klaushofer K; Grill F
    Int J Med Sci; 2013; 10(9):1250-8. PubMed ID: 23935403
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Foveal Hypoplasia in Patients with Stickler Syndrome.
    Matsushita I; Nagata T; Hayashi T; Kimoto K; Kubota T; Ohji M; Kusaka S; Kondo H
    Ophthalmology; 2017 Jun; 124(6):896-902. PubMed ID: 28283280
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.
    Edwards TL; Burt BO; Black GC; Perveen R; Kearns LS; Staffieri SE; Toomes C; Buttery RG; Mackey DA
    Clin Exp Ophthalmol; 2012 Jul; 40(5):476-83. PubMed ID: 22574936
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
    Wang DD; Gao FJ; Hu FY; Zhang SH; Xu P; Wu JH
    BMC Med Genet; 2020 Feb; 21(1):27. PubMed ID: 32039712
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
    Higuchi Y; Hasegawa K; Yamashita M; Tanaka H; Tsukahara H
    J Med Case Rep; 2017 Aug; 11(1):237. PubMed ID: 28841907
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.
    Huang X; Lin Y; Chen C; Zhu Y; Gao H; Li T; Liu B; Lyu C; Huang Y; Wu Q; Li H; Jin C; Liang X; Lu L
    Int J Mol Med; 2018 Oct; 42(4):1819-1826. PubMed ID: 30015854
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.
    Fincham GS; Pasea L; Carroll C; McNinch AM; Poulson AV; Richards AJ; Scott JD; Snead MP
    Ophthalmology; 2014 Aug; 121(8):1588-97. PubMed ID: 24793526
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.