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Journal Abstract Search

238 related items for PubMed ID: 33184694

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  • 23. 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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  • 24. A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
    Parsons SJH, Wright NB, Burkitt-Wright E, Skae MS, Murray PG.
    Am J Med Genet A; 2017 Aug; 173(8):2261-2267. PubMed ID: 28586151
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  • 26. SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
    Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT.
    J Clin Endocrinol Metab; 2014 Dec; 99(12):E2702-8. PubMed ID: 25140394
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  • 31. HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.
    Trivellin G, Faucz FR, Daly AF, Beckers A, Stratakis CA.
    Endocr Relat Cancer; 2020 Aug; 27(8):T87-T97. PubMed ID: 32240984
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  • 32. 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; 61(3):168-172. PubMed ID: 29175558
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  • 36. 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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  • 37. 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 Dec; 13(4):552-60. PubMed ID: 25402377
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  • 38. Hypopituitarism in Sox3 null mutants correlates with altered NG2-glia in the median eminence and is influenced by aspirin and gut microbiota.
    Galichet C, Rizzoti K, Lovell-Badge R.
    PLoS Genet; 2024 Sep; 20(9):e1011395. PubMed ID: 39325695
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