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Journal Abstract Search

190 related items for PubMed ID: 25456301

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  • 3. 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. 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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  • 6. 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 Feb 26; 9(11):e112747. PubMed ID: 25392994
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  • 7. 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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  • 9. 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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  • 12. 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 01; 23(1):77-84. PubMed ID: 14695535
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  • 15. 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 01; 43(2):201-209. PubMed ID: 34751625
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  • 17. 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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  • 18. Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.
    Charsar BA, Goldberg EM.
    Pediatr Neurol; 2017 Nov 04; 76():91-92. PubMed ID: 28950998
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  • 19. Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
    Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA.
    Hum Mol Genet; 2021 Dec 17; 31(1):1-9. PubMed ID: 33693784
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  • 20. 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 17; 71(6):1320-9. PubMed ID: 12415512
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