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Journal Abstract Search

246 related items for PubMed ID: 20473311

  • 1. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
    Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J.
    Nat Genet; 2010 Jun; 42(6):486-8. PubMed ID: 20473311
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  • 4. A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
    Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M.
    Eur J Hum Genet; 2016 Aug; 24(8):1117-23. PubMed ID: 26733290
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  • 5. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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  • 6. A case of intellectual disability reveals a novel mutation in IQSEC2 gene by whole exome sequencing.
    Zou Q, Zheng J, Zhang R, Fang Y, Cai C.
    Psychiatr Genet; 2019 Dec 02; 29(6):243-247. PubMed ID: 31490346
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  • 9. Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
    Shoubridge C, Walikonis RS, Gécz J, Harvey RJ.
    Small GTPases; 2010 Sep 02; 1(2):98-103. PubMed ID: 21686261
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  • 10. A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.
    Choi MH, Yang JO, Min JS, Lee JJ, Jun SY, Lee YJ, Yoon JY, Jeon SJ, Byeon I, Kang JW, Kim NS.
    Genet Test Mol Biomarkers; 2020 Jan 02; 24(1):54-58. PubMed ID: 31829726
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  • 11. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
    Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.
    Eur J Hum Genet; 2017 Jun 02; 25(6):763-767. PubMed ID: 28295038
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  • 12. [Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
    Li Y, Qin L, Yang K, Chen X, Zhu H, Mi L, Wang Y, Ma X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):533-539. PubMed ID: 38684296
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  • 13. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP.
    Eur J Med Genet; 2020 Mar 10; 63(3):103735. PubMed ID: 31415821
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  • 16. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
    Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B.
    Int J Mol Sci; 2022 Aug 22; 23(16):. PubMed ID: 36012761
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  • 17. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
    Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A.
    Nat Genet; 2000 Oct 22; 26(2):247-50. PubMed ID: 11017088
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  • 18. Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
    Lower KM, Gecz J.
    Am J Med Genet; 2001 Apr 15; 100(1):43-8. PubMed ID: 11337747
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  • 19. IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
    Shoubridge C, Harvey RJ, Dudding-Byth T.
    Hum Mutat; 2019 Jan 15; 40(1):5-24. PubMed ID: 30328660
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