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Journal Abstract Search

223 related items for PubMed ID: 28687524

  • 1. 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; 60(10):504-508. PubMed ID: 28687524
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  • 3. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
    Arroyo Carrera I, Fernández-Burriel M, Lapunzina P, Tenorio JA, García Navas VD, Márquez Isidro E.
    Clin Genet; 2021 Jun; 99(6):812-817. PubMed ID: 33527360
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  • 4. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
    Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M.
    Am J Med Genet A; 2018 Dec; 176(12):2813-2818. PubMed ID: 30365874
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  • 8. 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; 173(8):2132-2138. PubMed ID: 28574232
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  • 9. Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.
    Vaqueiro AC, de Oliveira CP, Cordoba MS, Versiani BR, de Carvalho CX, Alves Rodrigues PG, de Oliveira SF, Mazzeu JF, Pic-Taylor A.
    Eur J Med Genet; 2018 Jan; 61(1):29-33. PubMed ID: 29038029
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  • 11. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
    Hu Y, Lauffer P, Stewart M, Codner G, Mayerl S, Heuer H, Ng L, Forrest D, van Trotsenburg P, Jongejan A, Fliers E, Hennekam R, Boelen A.
    Hum Mol Genet; 2022 Aug 25; 31(17):2951-2963. PubMed ID: 35416977
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  • 12. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
    Pons L, Cordier MP, Labalme A, Till M, Louvrier C, Schluth-Bolard C, Lesca G, Edery P, Sanlaville D.
    Am J Med Genet A; 2015 Jan 25; 167A(1):164-8. PubMed ID: 25425123
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  • 14. A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.
    García-Payá E, Sirera Sirera P, Huertas-García I, Hernández Romero SD, Olivas García J.
    Cytogenet Genome Res; 2023 Jan 25; 163(5-6):295-300. PubMed ID: 37844553
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  • 15. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
    Quan Y, Zhang Q, Chen M, Wu H, Ou J, Shen Y, Li K, Xun G, Zhao J, Hu Z, Xia K, Guo H.
    J Mol Neurosci; 2020 Dec 25; 70(12):2085-2092. PubMed ID: 32524419
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  • 17. 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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  • 18. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J.
    Am J Med Genet A; 2018 Sep 06; 176(9):1845-1851. PubMed ID: 30055086
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