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Journal Abstract Search

127 related items for PubMed ID: 29038029

  • 21. A new familial case of microdeletion syndrome 10p15.3.
    Eggert M, Müller S, Heinrich U, Mehraein Y.
    Eur J Med Genet; 2016 Apr; 59(4):179-82. PubMed ID: 26921531
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  • 22. 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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  • 23. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
    Aleksiūnienė B, Preiksaitiene E, Morkūnienė A, Ambrozaitytė L, Utkus A.
    Cytogenet Genome Res; 2018 Nov 30; 154(1):6-11. PubMed ID: 29421787
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  • 24. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
    Kumps C, D'haenens E, Vergult S, Leus J, van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM.
    Clin Genet; 2021 Mar 30; 99(3):449-456. PubMed ID: 33340101
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  • 26. Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.
    Hervé B, Roume J, Cognard S, Fauvert D, Molina-Gomes D, Vialard F.
    Eur J Med Genet; 2015 Mar 30; 58(6-7):346-50. PubMed ID: 25963108
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  • 27. 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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  • 28. The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP.
    Jung H, Yoo HY, Lee SH, Shin S, Kim SC, Lee S, Joung JG, Nam JY, Ryu D, Yun JW, Choi JK, Ghosh A, Kim KK, Kim SJ, Kim WS, Park WY, Ko YH.
    Oncotarget; 2017 Mar 07; 8(10):17038-17049. PubMed ID: 28152507
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  • 30. Loss of TBL1XR1 disrupts glucocorticoid receptor recruitment to chromatin and results in glucocorticoid resistance in a B-lymphoblastic leukemia model.
    Jones CL, Bhatla T, Blum R, Wang J, Paugh SW, Wen X, Bourgeois W, Bitterman DS, Raetz EA, Morrison DJ, Teachey DT, Evans WE, Garabedian MJ, Carroll WL.
    J Biol Chem; 2014 Jul 25; 289(30):20502-15. PubMed ID: 24895125
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  • 31. Deficiency of TBL1XR1 causes asthenozoospermia.
    Zhou Q, Xu M, Wang X, Yu M, Chen X, Lu J, Zhou R, Zhang J, Ling X, Ji J.
    Andrologia; 2021 Apr 25; 53(3):e13980. PubMed ID: 33528066
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  • 32. Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing.
    Andersson E, Eldfors S, Edgren H, Ellonen P, Väkevä L, Ranki A, Mustjoki S.
    Exp Dermatol; 2014 May 25; 23(5):366-8. PubMed ID: 24689486
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  • 35. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
    Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND.
    J Med Genet; 2013 Mar 25; 50(3):163-73. PubMed ID: 23335808
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  • 36. 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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  • 40. Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
    Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A, Deciphering Developmental Disorders StudyWellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M.
    Clin Genet; 2020 Aug 20; 98(2):172-178. PubMed ID: 32415735
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