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Journal Abstract Search

164 related items for PubMed ID: 35611576

  • 1. 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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  • 2. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
    Ren M, Zheng H, Lu X, Lian W, Feng B.
    Gene; 2023 Nov 30; 886():147777. PubMed ID: 37683765
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  • 3. 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 30; 59(10):581-3. PubMed ID: 25102098
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  • 4. Genetic heterogeneity in infantile spasms.
    Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, von Spiczak S, Weckhuysen S, Mefford HC, EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen.
    Epilepsy Res; 2019 Oct 30; 156():106181. PubMed ID: 31394400
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  • 5. A specific mutation in TBL1XR1 causes Pierpont syndrome.
    Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.
    J Med Genet; 2016 May 30; 53(5):330-7. PubMed ID: 26769062
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  • 11. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
    Am J Med Genet A; 2017 Aug 30; 173(8):2132-2138. PubMed ID: 28574232
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  • 12. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
    Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.
    Eur J Med Genet; 2017 Oct 30; 60(10):504-508. PubMed ID: 28687524
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  • 17. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
    Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A.
    PLoS One; 2021 Oct 30; 16(10):e0258766. PubMed ID: 34653234
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  • 18. Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1.
    Osumi T, Watanabe A, Okamura K, Nakabayashi K, Yoshida M, Tsujimoto SI, Uchiyama M, Takahashi H, Tomizawa D, Hata K, Kiyokawa N, Kato M.
    Genes Chromosomes Cancer; 2019 Nov 30; 58(11):820-823. PubMed ID: 31350930
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  • 20. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B, Ramsey K, Belnap N, Szelinger S, Siniard AL, Balak C, Russell M, Richholt R, De Both M, Claasen AM, Schrauwen I, Huentelman MJ, Craig DW, Rangasamy S, Narayanan V.
    Semin Pediatr Neurol; 2018 Jul 30; 26():28-32. PubMed ID: 29961512
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