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Journal Abstract Search

141 related items for PubMed ID: 37683765

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  • 3. Rare variant of TBL1XR1 in West syndrome: A case report.
    Shen Y, Yuan M, Luo H, Yang Z, Liang M, Gan J.
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1991. PubMed ID: 35611576
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  • 6. A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
    Tamma PL, Streff H, Murali CN.
    Am J Med Genet A; 2023 Jun; 191(6):1576-1580. PubMed ID: 36843287
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  • 8. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
    Nishi A, Numata S, Tajima A, Zhu X, Ito K, Saito A, Kato Y, Kinoshita M, Shimodera S, Ono S, Ochi S, Imamura A, Kurotaki N, Ueno SI, Iwata N, Fukui K, Imoto I, Kamiya A, Ohmori T.
    Sci Rep; 2017 Jun 06; 7(1):2887. PubMed ID: 28588275
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  • 17. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
    Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
    J Hum Genet; 2014 Oct 06; 59(10):581-3. PubMed ID: 25102098
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  • 19. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F, Titheradge H, Cooper N, Elmslie F, Lees MM, Juusola J, Pisani L, McKenna C, Mignot C, Valence S, Keren B, Lachlan K, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., Balasubramanian M.
    Am J Med Genet A; 2020 Apr 06; 182(4):713-720. PubMed ID: 31926053
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