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152 related items for PubMed ID: 25140394

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. SOX3 is required during the formation of the hypothalamo-pituitary axis.
    Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R.
    Nat Genet; 2004 Mar 26; 36(3):247-55. PubMed ID: 14981518
    [Abstract] [Full Text] [Related]

  • 6. 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 Mar 26; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 03; 41(9):669-78. PubMed ID: 15342697
    [Abstract] [Full Text] [Related]

  • 9. Study of six patients with complete F9 deletion characterized by cytogenetic microarray: role of the SOX3 gene in intellectual disability.
    Jourdy Y, Chatron N, Carage ML, Fretigny M, Meunier S, Zawadzki C, Gay V, Negrier C, Sanlaville D, Vinciguerra C.
    J Thromb Haemost; 2016 Oct 03; 14(10):1988-1993. PubMed ID: 27477789
    [Abstract] [Full Text] [Related]

  • 10. Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.
    Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E.
    Am J Med Genet A; 2013 May 03; 161A(5):1137-42. PubMed ID: 23463539
    [Abstract] [Full Text] [Related]

  • 11. Hypopituitarism oddities: congenital causes.
    Kelberman D, Dattani MT.
    Horm Res; 2007 May 03; 68 Suppl 5():138-44. PubMed ID: 18174732
    [Abstract] [Full Text] [Related]

  • 12. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
    Sloop KW, Walvoord EC, Showalter AD, Pescovitz OH, Rhodes SJ.
    J Clin Endocrinol Metab; 2000 Aug 03; 85(8):2701-8. PubMed ID: 10946868
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 17(6):569-74. PubMed ID: 24346842
    [Abstract] [Full Text] [Related]

  • 14. 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 03; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 15. GH deficiency with central precocious puberty: a new rare disorder associated with a developmental defect of the hypothalamic-pituitary area.
    Ladjouze A, Soskin S, Garel C, Jullien M, Naud-Saudreau C, Pinto G, Czernichow P, Léger J.
    Eur J Endocrinol; 2007 Apr 03; 156(4):463-9. PubMed ID: 17389461
    [Abstract] [Full Text] [Related]

  • 16. Craniopharyngeal canal and its spectrum of pathology.
    Abele TA, Salzman KL, Harnsberger HR, Glastonbury CM.
    AJNR Am J Neuroradiol; 2014 Apr 03; 35(4):772-7. PubMed ID: 24184521
    [Abstract] [Full Text] [Related]

  • 17. 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 03; 61(3):168-172. PubMed ID: 29175558
    [Abstract] [Full Text] [Related]

  • 18. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
    Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.
    Clin Endocrinol (Oxf); 2005 Jul 03; 63(1):10-8. PubMed ID: 15963055
    [Abstract] [Full Text] [Related]

  • 19. 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 03; 164A(8):1947-52. PubMed ID: 24737742
    [Abstract] [Full Text] [Related]

  • 20. Ectopic pituitary adenoma in persistent craniopharyngeal canal: case report and literature review.
    Kaushik C, Ramakrishnaiah R, Angtuaco EJ.
    J Comput Assist Tomogr; 2010 Jul 03; 34(4):612-4. PubMed ID: 20657232
    [Abstract] [Full Text] [Related]

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