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Journal Abstract Search

153 related items for PubMed ID: 19654509

  • 1. X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
    Burkitt Wright EM, Perveen R, Clayton PE, Hall CM, Costa T, Procter AM, Giblin CA, Donnai D, Black GC.
    Clin Dysmorphol; 2009 Oct; 18(4):218-21. PubMed ID: 19654509
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  • 2. Comparative analysis of SOX3 protein orthologs: Expansion of homopolymeric amino acid tracts during vertebrate evolution.
    Mojsin M, Kovacevic-Grujicic N, Krstic A, Popovic J, Milivojevic M, Stevanovic M.
    Biochem Genet; 2010 Aug; 48(7-8):612-23. PubMed ID: 20495863
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  • 3. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
    Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.
    Pituitary; 2014 Dec; 17(6):569-74. PubMed ID: 24346842
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  • 4. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.
    Am J Hum Genet; 2002 Dec; 71(6):1450-5. PubMed ID: 12428212
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  • 5. Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
    Alatzoglou KS, Kelberman D, Cowell CT, Palmer R, Arnhold IJ, Melo ME, Schnabel D, Grueters A, Dattani MT.
    J Clin Endocrinol Metab; 2011 Apr; 96(4):E685-90. PubMed ID: 21289259
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  • 8. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.
    Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J.
    Mol Cell Endocrinol; 2018 Dec 15; 478():133-140. PubMed ID: 30125608
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  • 10. A complex phenotype in a family with a pathogenic SOX3 missense variant.
    Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H.
    Eur J Med Genet; 2018 Mar 15; 61(3):168-172. PubMed ID: 29175558
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  • 12. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
    Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR.
    J Med Genet; 2002 Nov 15; 39(11):852-6. PubMed ID: 12414828
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  • 14. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
    Zhao XL, Meng JP, Sun M, Ao Y, Wu AH, Lo HY, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb 15; 22(1):5-9. PubMed ID: 15696469
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  • 16. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
    Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G.
    Am J Med Genet A; 2014 Aug 15; 164A(8):1947-52. PubMed ID: 24737742
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  • 17. A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.
    Stagi S, Lapi E, Pantaleo M, Traficante G, Giglio S, Seminara S, de Martino M.
    Hormones (Athens); 2014 Aug 15; 13(4):552-60. PubMed ID: 25402377
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  • 20. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
    Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB.
    Neurology; 2007 Jul 31; 69(5):427-33. PubMed ID: 17664401
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