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150 related items for PubMed ID: 32178553

  • 1. Three cases of molecularly confirmed Knobloch syndrome.
    Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M.
    Ophthalmic Genet; 2020 Feb; 41(1):83-87. PubMed ID: 32178553
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  • 2. Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population.
    Li S, Wang Y, Sun L, Yan W, Huang L, Zhang Z, Zhang T, Ding X.
    Genes (Basel); 2021 Sep 26; 12(10):. 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 26; 51(6):806-813.e8. PubMed ID: 25456301
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  • 5. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 26; 29(2):85-6. PubMed ID: 18484314
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  • 6. Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
    Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C.
    Eur J Ophthalmol; 2021 Nov 26; 31(6):3349-3354. PubMed ID: 33238767
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  • 8. 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 26; 96(6):890-5. PubMed ID: 22399687
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  • 9. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
    Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M.
    Hum Mutat; 2004 Jan 26; 23(1):77-84. PubMed ID: 14695535
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  • 13. Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
    Ogreden TA, Erdoğan G.
    BMC Ophthalmol; 2024 Apr 04; 24(1):149. PubMed ID: 38575892
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  • 14. 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 04; 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. 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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  • 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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  • 19. 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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  • 20. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
    Passos-Bueno MR, Marie SK, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M.
    Am J Med Genet; 1994 Aug 15; 52(2):170-3. PubMed ID: 7802003
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