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Journal Abstract Search

127 related items for PubMed ID: 29038029

  • 1. 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]

  • 2. 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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  • 3. 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
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  • 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
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  • 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
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  • 6. 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]

  • 7. 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
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  • 9. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
    Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
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  • 10. 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
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  • 12. 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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  • 14. 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
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  • 16. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
    Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E, DDD study, Devriendt K, Breckpot J.
    Eur J Hum Genet; 2019 Feb; 27(2):278-290. PubMed ID: 30291340
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  • 17. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Shimojima K, Okamoto N, Yamamoto T.
    Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
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  • 18. 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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  • 19. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
    Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM.
    Nat Genet; 2016 Aug; 48(8):877-87. PubMed ID: 27399968
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  • 20. Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21).
    Panagopoulos I, Gorunova L, Bjerkehagen B, Lobmaier I, Heim S.
    Int J Oncol; 2016 Mar; 48(3):1242-50. PubMed ID: 26708416
    [Abstract] [Full Text] [Related]

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