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Journal Abstract Search

190 related items for PubMed ID: 25456301

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
    Irene Díez García-Prieto I, Lopez-Martín S, Albert J, Jiménez de la Peña M, Fernández-Mayoralas DM, Calleja-Pérez B, Gómez Fernández MT, Álvarez S, Pihlajaniemi T, Izzi V, Fernández-Jaén A.
    Neurocase; 2022 Feb 26; 28(1):11-18. PubMed ID: 35253627
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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 26; 60(8):437-443. PubMed ID: 28602933
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
    Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS.
    J Med Genet; 2011 Sep 01; 48(9):597-601. PubMed ID: 21862674
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 152A(11):2875-9. PubMed ID: 20799329
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 13. A phenotypic variant of Knobloch syndrome.
    Williams TA, Kirkby GR, Williams D, Ainsworth JR.
    Ophthalmic Genet; 2008 Jun 01; 29(2):85-6. PubMed ID: 18484314
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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 01; 50(8):565-6. PubMed ID: 23667181
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [No Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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