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Journal Abstract Search

582 related items for PubMed ID: 25392994

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  • 3. 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
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  • 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; 23(1):77-84. PubMed ID: 14695535
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  • 7. 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; 60(8):437-443. PubMed ID: 28602933
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  • 8. 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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  • 9. Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
    Khan AO, Aldahmesh MA, Noor J, Salem A, Alkuraya FS.
    Ophthalmic Genet; 2015 Mar 01; 36(1):8-13. PubMed ID: 24001013
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  • 10. 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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  • 14. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.
    Invest Ophthalmol Vis Sci; 2010 Jul 01; 51(7):3646-52. PubMed ID: 20130272
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  • 17. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
    Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA.
    Eur J Med Genet; 2015 Nov 01; 58(11):573-7. PubMed ID: 26260707
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  • 18. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
    Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.
    Brain; 2013 Mar 01; 136(Pt 3):882-90. PubMed ID: 23423671
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  • 19. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
    Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B.
    Mol Vis; 2015 Mar 01; 21():306-15. PubMed ID: 25814828
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  • 20. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
    Jelani M, Kang C, Mohamoud HS, Al-Rehaili R, Almramhi MM, Serafi R, Yang H, Al-Aama JY, Naeem M, Alkhiary YM.
    Arch Oral Biol; 2016 Jul 01; 67():28-33. PubMed ID: 27019138
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