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Journal Abstract Search

270 related items for PubMed ID: 15800844

  • 1. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
    Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
    Am J Hum Genet; 2005 May; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 2. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.
    J Med Genet; 2004 Sep; 41(9):669-78. PubMed ID: 15342697
    [Abstract] [Full Text] [Related]

  • 3. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
    Arya VB, Chawla G, Nambisan AKR, Muhi-Iddin N, Vamvakiti E, Ajzensztejn M, Hulse T, Ferreira Pinto C, Lahiri N, Bint S, Buchanan CR, Kapoor RR.
    Horm Res Paediatr; 2019 Sep; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
    Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ.
    Front Biosci; 2007 Jan 01; 12():2085-95. PubMed ID: 17127446
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 96(4):E685-90. PubMed ID: 21289259
    [Abstract] [Full Text] [Related]

  • 7. Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
    Rosolowsky ET, Stein R, Marks SD, Leonard N.
    J Pediatr Endocrinol Metab; 2020 Mar 26; 33(3):443-447. PubMed ID: 26352083
    [Abstract] [Full Text] [Related]

  • 8. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.
    Pituitary; 2021 Apr 26; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 17(6):569-74. PubMed ID: 24346842
    [Abstract] [Full Text] [Related]

  • 10. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.
    J Med Genet; 2007 Apr 26; 44(4):e75. PubMed ID: 17400794
    [No Abstract] [Full Text] [Related]

  • 11. 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 26; 61(3):168-172. PubMed ID: 29175558
    [Abstract] [Full Text] [Related]

  • 12. 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 26; 99(12):E2702-8. PubMed ID: 25140394
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
    Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN.
    J Clin Res Pediatr Endocrinol; 2020 Sep 02; 12(3):319-328. PubMed ID: 31782289
    [Abstract] [Full Text] [Related]

  • 16. Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.
    Du C, Wang F, Li Z, Zhang M, Yu X, Liang Y, Luo X.
    BMC Med Genomics; 2022 Feb 03; 15(1):19. PubMed ID: 35114986
    [Abstract] [Full Text] [Related]

  • 17. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
    Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.
    Am J Med Genet A; 2005 Sep 15; 138(1):11-7. PubMed ID: 16097007
    [Abstract] [Full Text] [Related]

  • 18. Hypopituitarism oddities: congenital causes.
    Kelberman D, Dattani MT.
    Horm Res; 2007 Sep 15; 68 Suppl 5():138-44. PubMed ID: 18174732
    [Abstract] [Full Text] [Related]

  • 19. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
    Kelberman D, Dattani MT.
    Ann Med; 2006 Sep 15; 38(8):560-77. PubMed ID: 17438671
    [Abstract] [Full Text] [Related]

  • 20. 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 Sep 15; 13(4):552-60. PubMed ID: 25402377
    [Abstract] [Full Text] [Related]

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