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PUBMED FOR HANDHELDS

Journal Abstract Search


156 related items for PubMed ID: 34680907

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  • 4. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
    Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.
    Pediatr Neurol; 2014 Dec; 51(6):806-813.e8. PubMed ID: 25456301
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  • 9. The distinct ophthalmic phenotype of Knobloch syndrome in children.
    Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS.
    Br J Ophthalmol; 2012 Jun; 96(6):890-5. PubMed ID: 22399687
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  • 11. Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.
    Charsar BA, Goldberg EM.
    Pediatr Neurol; 2017 Nov; 76():91-92. PubMed ID: 28950998
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  • 13. Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
    Patel CK, Broadgate S, Shalaby A, Yu J, Nemeth AH, Downes SM, Halford S.
    Ophthalmic Genet; 2022 Apr; 43(2):201-209. PubMed ID: 34751625
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  • 15. [Knobloch syndrome: a case report].
    Liu QY, Cui XH, Li Z, Shao Y, Xing DJ, Li WB, Li XR.
    Zhonghua Yan Ke Za Zhi; 2022 Jun 11; 58(6):457-459. PubMed ID: 35692029
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  • 16. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
    Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR.
    Am J Hum Genet; 2002 Dec 11; 71(6):1320-9. PubMed ID: 12415512
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  • 17. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
    Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J.
    Eur J Med Genet; 2017 Aug 11; 60(8):437-443. PubMed ID: 28602933
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  • 20. No evidence for locus heterogeneity in Knobloch syndrome.
    Aldahmesh MA, Khan AO, Mohamed JY, Levin AV, Wuthisiri W, Lynch S, McCreery K, Alkuraya FS.
    J Med Genet; 2013 Aug 11; 50(8):565-6. PubMed ID: 23667181
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