BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 30450842)

  • 1. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A; Li B; Cohn DH; Nickerson DA; Bamshad MJ; ; Hudgins L
    Am J Med Genet A; 2018 Dec; 176(12):2887-2891. PubMed ID: 30450842
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
    Nixon TRW; Alexander P; Richards A; McNinch A; Bearcroft PWP; Cobben J; Snead MP
    Am J Med Genet A; 2019 Aug; 179(8):1498-1506. PubMed ID: 31090205
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
    Baker S; Booth C; Fillman C; Shapiro M; Blair MP; Hyland JC; Ala-Kokko L
    Am J Med Genet A; 2011 Jul; 155A(7):1668-72. PubMed ID: 21671392
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
    Markova T; Sparber P; Borovikov A; Nagornova T; Dadali E
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1620. PubMed ID: 33570243
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
    Rad A; Najafi M; Suri F; Abedini S; Loum S; Karimiani EG; Daftarian N; Murphy D; Doosti M; Moghaddasi A; Ahmadieh H; Sabbaghi H; Rajati M; Hashemi N; Vona B; Schmidts M
    Orphanet J Rare Dis; 2022 Mar; 17(1):97. PubMed ID: 35241111
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
    Nikopoulos K; Schrauwen I; Simon M; Collin RW; Veckeneer M; Keymolen K; Van Camp G; Cremers FP; van den Born LI
    Invest Ophthalmol Vis Sci; 2011 Jul; 52(7):4774-9. PubMed ID: 21421862
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
    Faletra F; D'Adamo AP; Bruno I; Athanasakis E; Biskup S; Esposito L; Gasparini P
    Am J Med Genet A; 2014 Jan; 164A(1):42-7. PubMed ID: 24273071
    [TBL] [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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N; Lindberg BR; Kulseth MA; Fredwall SO; Lundby R; Estensen ME; Drolsum L; Merckoll E; Krohg-Sørensen K; Paus B
    BMC Med Genet; 2018 Aug; 19(1):155. PubMed ID: 30170566
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Pathogenic variants in
    Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; Dinger M; Buckley M; Roscioli T
    J Med Genet; 2019 Sep; 56(9):629-638. PubMed ID: 31129566
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Hearing Loss in Stickler Syndrome: An Update.
    Acke FRE; De Leenheer EMR
    Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.