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Journal Abstract Search

837 related items for PubMed ID: 27016154

  • 1. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U.
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
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  • 4. BRAT1 mutations present with a spectrum of clinical severity.
    Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S.
    Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
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  • 6. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
    Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE.
    Am J Med Genet A; 2020 Oct; 182(10):2214-2221. PubMed ID: 32783359
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  • 9. Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
    Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ.
    Eur J Hum Genet; 2016 Apr; 24(4):619-22. PubMed ID: 26197978
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  • 10. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
    Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK.
    Brain Dev; 2021 Feb; 43(2):314-319. PubMed ID: 33092935
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  • 12. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K.
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
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  • 19. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
    Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschké P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V.
    Brain; 2018 Jul 01; 141(7):1998-2013. PubMed ID: 29878067
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