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Journal Abstract Search

471 related items for PubMed ID: 27282546

  • 1. 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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  • 2. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
    Li S, Yu S, Zhang Y, Wang Y, Jiang X, Wu C.
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2092. PubMed ID: 36367347
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  • 3. Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
    Qi Y, Ji X, Ding H, Liu L, Zhang Y, Yin A.
    Front Genet; 2022 Jan; 13():821587. PubMed ID: 35360849
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  • 4. BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
    Smith NJ, Lipsett J, Dibbens LM, Heron SE.
    Am J Med Genet A; 2016 Nov; 170(11):3033-3038. PubMed ID: 27480663
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  • 8. 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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  • 11. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
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  • 12. BRAT1 Mutation Retrospective Diagnosis: A Case Report.
    Vercellino F, Valerio M, Dusio MP, Spano A, D'Alfonso S.
    Cureus; 2023 Mar; 15(3):e35655. PubMed ID: 37009381
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  • 13. A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
    Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S.
    Int J Neurosci; 2021 Sep; 131(9):875-878. PubMed ID: 32345087
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  • 14. Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
    Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT.
    Ophthalmic Genet; 2017 Dec; 38(6):559-561. PubMed ID: 28635423
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  • 16. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
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  • 17. BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
    Van Ommeren RH, Gao AF, Blaser SI, Chitayat DA, Hazrati LN.
    J Neuropathol Exp Neurol; 2018 Dec 01; 77(12):1071-1078. PubMed ID: 30346566
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  • 20. Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
    Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B.
    Eur J Paediatr Neurol; 2016 May 01; 20(3):421-5. PubMed ID: 26947546
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