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Journal Abstract Search

150 related items for PubMed ID: 33693784

  • 1. 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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  • 2. New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
    Schnur RE, Dvořáček L, Kalsner L, Shapiro FL, Grebeňová D, Yanni D, Wasserman BN, VIGORVirtual Genome Center for Infant Health (VIGOR) Group, Boston, Massachusetts, USA., Dyer LM, Antonarakis SE, Kuželová K.
    Clin Genet; 2024 Oct 17; 106(4):518-524. PubMed ID: 38894571
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  • 3. 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 17; 182(10):2239-2242. PubMed ID: 32700429
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  • 4. 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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  • 5. A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
    Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP.
    bioRxiv; 2024 Apr 22. PubMed ID: 38712026
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  • 10. 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 22; 23(1):77-84. PubMed ID: 14695535
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  • 11. 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 22; 31(6):3349-3354. PubMed ID: 33238767
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  • 12. Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.
    Charsar BA, Goldberg EM.
    Pediatr Neurol; 2017 Nov 22; 76():91-92. PubMed ID: 28950998
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  • 15. 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 22; 9(11):e112747. PubMed ID: 25392994
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  • 18. 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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  • 19. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
    Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ.
    Am J Med Genet A; 2007 Dec 01; 143A(23):2768-74. PubMed ID: 17975799
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  • 20. 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
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