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Journal Abstract Search

393 related items for PubMed ID: 28574232

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 167A(1):164-8. PubMed ID: 25425123
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 164A(9):2335-7. PubMed ID: 24891185
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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; 70(12):2085-2092. PubMed ID: 32524419
    [Abstract] [Full Text] [Related]

  • 7. 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; 53(5):330-7. PubMed ID: 26769062
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 Oct; 163(5-6):295-300. PubMed ID: 37844553
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.
    Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W.
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):98-101. PubMed ID: 28254236
    [Abstract] [Full Text] [Related]

  • 13. Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
    Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.
    PLoS One; 2017 Feb; 12(1):e0170386. PubMed ID: 28118382
    [Abstract] [Full Text] [Related]

  • 14. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
    Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A.
    Am J Med Genet A; 2015 Dec; 167A(12):3121-9. PubMed ID: 26332054
    [Abstract] [Full Text] [Related]

  • 15. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N.
    Gene; 2021 Feb 05; 768():145260. PubMed ID: 33164824
    [Abstract] [Full Text] [Related]

  • 16. Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
    Smyk M, Poluha A, Jaszczuk I, Bartnik M, Bernaciak J, Nowakowska B.
    Am J Med Genet A; 2016 May 05; 170A(5):1325-9. PubMed ID: 26834018
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  • 20. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN.
    Gene; 2014 Feb 15; 536(1):145-50. PubMed ID: 24291026
    [Abstract] [Full Text] [Related]

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