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Pubmed for Handhelds

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Journal Abstract Search

176 related items for PubMed ID: 32897902

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  • 3. 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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  • 4. Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
    Boysen KB, Tümer Z, Bach-Holm D, Bisgaard AM, Kessel L.
    Ophthalmic Genet; 2024 Jun; 45(3):313-318. PubMed ID: 38299479
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  • 5. 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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  • 6. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.
    Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ.
    Eye (Lond); 2011 Nov 31; 25(11):1389-400. PubMed ID: 21921955
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  • 7. 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 31; 9(5):e1628. PubMed ID: 33951325
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  • 9. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP, Tsang SH, Tezel TH.
    Ophthalmol Retina; 2020 May 31; 4(5):522. PubMed ID: 32381255
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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 May 31; 22():697-704. PubMed ID: 27390512
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  • 11. 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 31; 95(2):325-328. PubMed ID: 30362103
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  • 19. 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 31; 21(7-8):398-408. PubMed ID: 20686772
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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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