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Journal Abstract Search

140 related items for PubMed ID: 32700429

  • 1. Knobloch syndrome in a patient from Chile.
    Nakousi-Capurro N, Huserman J, Castillo S, Herrera L, Romero P, Pizarro F, Quezada C, Cea F.
    Am J Med Genet A; 2020 Oct; 182(10):2239-2242. PubMed ID: 32700429
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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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  • 3. 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 26; 41(1):83-87. PubMed ID: 32178553
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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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  • 7. Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
    Mahajan VB, Olney AH, Garrett P, Chary A, Dragan E, Lerner G, Murray J, Bassuk AG.
    Am J Med Genet A; 2010 Nov 26; 152A(11):2875-9. PubMed ID: 20799329
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  • 10. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
    Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.
    PLoS One; 2014 Nov 26; 9(11):e112747. PubMed ID: 25392994
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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 26; 43(2):201-209. PubMed ID: 34751625
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  • 14. 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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  • 15. Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT.
    JAMA Ophthalmol; 2016 Jul 01; 134(7):753-62. PubMed ID: 27259167
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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 01; 71(6):1320-9. PubMed ID: 12415512
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  • 17. Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1.
    Jiang Z, Sun W, Zhang Q, Wang P.
    Stem Cell Res; 2023 Aug 01; 70():103131. PubMed ID: 37269665
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  • 19. 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 01; 50(8):565-6. PubMed ID: 23667181
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  • 20. 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 01; 96(6):890-5. PubMed ID: 22399687
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