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Journal Abstract Search

168 related items for PubMed ID: 32524419

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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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  • 4. 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 30; 99(6):812-817. PubMed ID: 33527360
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  • 5. 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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  • 7. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
    Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS.
    Orphanet J Rare Dis; 2024 Feb 20; 19(1):79. PubMed ID: 38378692
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  • 10. Prospective investigation of FOXP1 syndrome.
    Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD.
    Mol Autism; 2017 Feb 20; 8():57. PubMed ID: 29090079
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  • 13. 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 20; 167A(1):164-8. PubMed ID: 25425123
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  • 14. Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
    Li Y, Jia X, Wu H, Xun G, Ou J, Zhang Q, Li H, Bai T, Hu Z, Zou X, Xia K, Guo H.
    Am J Med Genet A; 2018 Dec 20; 176(12):2668-2676. PubMed ID: 30537371
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  • 15. 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 Dec 20; 163(5-6):295-300. PubMed ID: 37844553
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  • 16. 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 20; 53(5):330-7. PubMed ID: 26769062
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  • 18. A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
    Zhao W, Zhang Y, Lv T, He J, Zhu B.
    Mol Genet Genomic Med; 2023 Dec 20; 11(12):e2273. PubMed ID: 37605493
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  • 20. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K.
    Am J Hum Genet; 2020 Nov 05; 107(5):963-976. PubMed ID: 33157009
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