These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 35241111)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Autosomal Recessive Stickler Syndrome.
    Nixon TRW; Richards AJ; Martin H; Alexander P; Snead MP
    Genes (Basel); 2022 Jun; 13(7):. PubMed ID: 35885918
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Dominant Stickler Syndrome.
    Soh Z; Richards AJ; McNinch A; Alexander P; Martin H; Snead MP
    Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741851
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.
    Goldstein O; Guyon R; Kukekova A; Kuznetsova TN; Pearce-Kelling SE; Johnson J; Aguirre GD; Acland GM
    Mamm Genome; 2010 Aug; 21(7-8):398-408. PubMed ID: 20686772
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. 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]  

  • 18. 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]  

  • 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. 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]  

    [Next]    [New Search]
    of 10.