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Journal Abstract Search

204 related items for PubMed ID: 25073711

  • 1. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
    Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA.
    Am J Med Genet A; 2014 Oct; 164A(10):2601-6. PubMed ID: 25073711
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  • 4. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
    Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.
    J Med Genet; 2012 Apr; 49(4):246-8. PubMed ID: 22499343
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  • 7. Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.
    Harris SR.
    Am J Med Genet A; 2024 Apr; 194(4):e63488. PubMed ID: 38062645
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  • 10. 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 Apr; 22():697-704. PubMed ID: 27390512
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  • 11. 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
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  • 12. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
    Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.
    Mol Vis; 2018 Sep; 24():560-573. PubMed ID: 30181686
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  • 17. Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome.
    Griffith AJ, Gebarski SS, Shepard NT, Kileny PR.
    Arch Otolaryngol Head Neck Surg; 2000 Jul; 126(7):891-4. PubMed ID: 10889003
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  • 19. Marshall syndrome associated with a splicing defect at the COL11A1 locus.
    Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML.
    Am J Hum Genet; 1998 Apr; 62(4):816-23. PubMed ID: 9529347
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