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Journal Abstract Search

137 related items for PubMed ID: 17975799

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

  • 2. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.
    Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR.
    Hum Mol Genet; 1996 Jun 01; 5(6):843-7. PubMed ID: 8776601
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
    Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR.
    Hum Mol Genet; 2000 Aug 12; 9(13):2051-8. PubMed ID: 10942434
    [Abstract] [Full Text] [Related]

  • 8. 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 12; 182(10):2239-2242. PubMed ID: 32700429
    [Abstract] [Full Text] [Related]

  • 9. 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 12; 41(1):83-87. PubMed ID: 32178553
    [Abstract] [Full Text] [Related]

  • 10. 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 12; 31(6):3349-3354. PubMed ID: 33238767
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia.
    Yang Z, Xiao X, Li S, Zhang Q.
    Mol Vis; 2009 Aug 26; 15():312-8. PubMed ID: 19204786
    [Abstract] [Full Text] [Related]

  • 14. 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 Aug 26; 9(11):e112747. PubMed ID: 25392994
    [Abstract] [Full Text] [Related]

  • 15. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.
    Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL.
    Invest Ophthalmol Vis Sci; 2003 May 26; 44(5):1830-6. PubMed ID: 12714612
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.
    Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE.
    Am J Med Genet; 1993 Apr 15; 46(2):203-8. PubMed ID: 8484411
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  • 19. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
    Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW.
    Hum Genet; 2003 Jul 15; 113(1):1-9. PubMed ID: 12677423
    [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 15; 71(6):1320-9. PubMed ID: 12415512
    [Abstract] [Full Text] [Related]

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