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Journal Abstract Search

182 related items for 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 03; 17(1):97. PubMed ID: 35241111
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  • 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 03; 179(8):1498-1506. PubMed ID: 31090205
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  • 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 03; 9(3):e1620. PubMed ID: 33570243
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  • 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 03; 155A(7):1668-72. PubMed ID: 21671392
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  • 5. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian GenomicsUniversity of Washington Center for Mendelian Genomics, Seattle, Washington., Hudgins L.
    Am J Med Genet A; 2018 Dec 03; 176(12):2887-2891. PubMed ID: 30450842
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  • 6. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr 03; 42(2):161-169. PubMed ID: 33356723
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  • 9. Autosomal Recessive Stickler Syndrome.
    Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP.
    Genes (Basel); 2022 Jun 24; 13(7):. PubMed ID: 35885918
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  • 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 01; 52(7):4774-9. PubMed ID: 21421862
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  • 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 01; 8(9):e1354. PubMed ID: 32578940
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  • 12. Dominant Stickler Syndrome.
    Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP.
    Genes (Basel); 2022 Jun 18; 13(6):. PubMed ID: 35741851
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  • 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 18; 9(5):e1628. PubMed ID: 33951325
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  • 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 18; 40(3):281-288. PubMed ID: 32196734
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  • 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 31; 19(1):155. PubMed ID: 30170566
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  • 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 31; 84(5):380-392. PubMed ID: 32427345
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  • 19. Hearing Loss in Stickler Syndrome: An Update.
    Acke FRE, De Leenheer EMR.
    Genes (Basel); 2022 Sep 01; 13(9):. PubMed ID: 36140739
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  • 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 05; 12(10):. PubMed ID: 34680973
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