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Journal Abstract Search

142 related items for PubMed ID: 30365874

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  • 5. 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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  • 6. Pierpont syndrome: report of a new patient.
    Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.
    Clin Dysmorphol; 2017 Oct; 26(4):205-208. PubMed ID: 28562391
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  • 7. 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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  • 8. Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.
    Pereira-Nunes J, Vilan A, Grangeia A, d'Oliveira R.
    J Investig Med High Impact Case Rep; 2023 Jun; 11():23247096221150637. PubMed ID: 36691917
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  • 9. Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
    Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J.
    Clin Dysmorphol; 2022 Jul 01; 31(3):145-148. PubMed ID: 35165208
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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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  • 13. Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant.
    Hu Y, Lauffer P, Jongejan A, Falize K, Bruinstroop E, van Trotsenburg P, Fliers E, Hennekam RC, Boelen A.
    Gene; 2024 Nov 15; 927():148707. PubMed ID: 38885822
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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 Nov 15; 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 15; 70(12):2085-2092. PubMed ID: 32524419
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  • 16. A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.
    Wu XH, Lin SZ, Liu ZX, Qi YF, Wang WQ, Li JY, Chen QD, Yang LL.
    Medicine (Baltimore); 2023 May 12; 102(19):e33744. PubMed ID: 37171308
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  • 17. De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
    Tabet AC, Leroy C, Dupont C, Serrano E, Hernandez K, Gallard J, Pouvreau N, Gadisseux JF, Benzacken B, Verloes A.
    Am J Med Genet A; 2014 Sep 12; 164A(9):2335-7. PubMed ID: 24891185
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  • 18. 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 12; 59(10):581-3. PubMed ID: 25102098
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  • 20. Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
    Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B.
    Am J Med Genet A; 2018 Jul 12; 176(7):1683-1687. PubMed ID: 29777588
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