BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

234 related articles for article (PubMed ID: 21777803)

  • 1. Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
    Gerth-Kahlert C; Grisanti S; Berger E; Höhn R; Witt G; Jung U
    J AAPOS; 2011 Jun; 15(3):311-3. PubMed ID: 21777803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP; Tsang SH; Tezel TH
    Ophthalmol Retina; 2020 May; 4(5):522. PubMed ID: 32381255
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
    Dupont C; Baumann C; Le Du N; Schaefer E; Guimiot F; Boutaud L; Capri Y; Spaggiari E; Aboura A; Benzacken B; Tabet AC
    Am J Med Genet A; 2013 Oct; 161A(10):2663-5. PubMed ID: 23918474
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Giant premacular bursa: a novel finding of the posterior vitreous in two patients with Stickler syndrome type 1 revealed by swept-source optical coherence tomography.
    Chen KC; Jung JJ; Engelbert M
    Graefes Arch Clin Exp Ophthalmol; 2016 Mar; 254(3):591-3. PubMed ID: 26245341
    [No Abstract]   [Full Text] [Related]  

  • 13. A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
    Chu FC; Hii LY; Hung TH; Lo LM; Hsieh TT; Shaw SW
    Taiwan J Obstet Gynecol; 2021 Mar; 60(2):359-362. PubMed ID: 33678343
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Importance of early diagnosis of Stickler syndrome in newborns.
    Antunes RB; Alonso N; Paula RG
    J Plast Reconstr Aesthet Surg; 2012 Aug; 65(8):1029-34. PubMed ID: 22424767
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Stickler syndrome.
    Rishi P; Maheshwari A; Rishi E
    Indian J Ophthalmol; 2015 Jul; 63(7):614-5. PubMed ID: 26458481
    [No Abstract]   [Full Text] [Related]  

  • 19. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
    Chan TK; Alkaabi MK; ElBarky AM; El-Hattab AW
    Clin Genet; 2019 Feb; 95(2):325-328. PubMed ID: 30362103
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.
    Yaguchi H; Ikeda T; Osada H; Yoshitake Y; Sasaki H; Yonekura H
    Genet Test Mol Biomarkers; 2011 Apr; 15(4):231-7. PubMed ID: 21186996
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.