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Journal Abstract Search


137 related items for PubMed ID: 25402377

  • 1. 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; 13(4):552-60. PubMed ID: 25402377
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 Feb 03; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 4. 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 03; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Diagnosis and growth hormone (GH) therapy in children with GH deficiency: experience in King Chulalongkorn Memorial Hospital, Thailand.
    Wacharasindhu S, Supornsilchai V, Aroonparkmongkol S, Srivuthana S.
    J Med Assoc Thai; 2007 Oct 03; 90(10):2047-52. PubMed ID: 18041422
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. The growth hormone cascade: progress and long-term results of growth hormone treatment in growth hormone deficiency.
    Grumbach MM, Bin-Abbas BS, Kaplan SL.
    Horm Res; 1998 Apr 03; 49 Suppl 2():41-57. PubMed ID: 9730672
    [Abstract] [Full Text] [Related]

  • 10. Increased prevalence of growth hormone deficiency in patients with vernal keratoconjuntivitis; an interesting new association.
    Stagi S, Pucci N, di Grande L, de Libero C, Caputo R, Pantano S, Seminara S, de Martino M, Novembre E.
    Hormones (Athens); 2014 Apr 03; 13(3):382-8. PubMed ID: 25079463
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 26; 161A(5):1137-42. PubMed ID: 23463539
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 164A(8):1947-52. PubMed ID: 24737742
    [Abstract] [Full Text] [Related]

  • 14. Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.
    Li J, Zhong Y, Guo T, Yu Y, Li J.
    Front Endocrinol (Lausanne); 2022 Aug 26; 13():810375. PubMed ID: 35295983
    [Abstract] [Full Text] [Related]

  • 15. [Efficacy and safety of recombinant human growth hormone solution in children with growth hormone deficiency in China: a multicenter trial].
    Hou L, Luo XP, Du ML, Ma HM, Gong CX, Li YC, Shen SX, Zhao ZH, Liang L, Dong GP, Yan CY, Du HW.
    Zhonghua Er Ke Za Zhi; 2009 Jan 26; 47(1):48-52. PubMed ID: 19573383
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Effect of growth hormone therapy on Taiwanese children with growth hormone deficiency.
    Huang YH, Wai YY, Van YH, Lo FS.
    J Formos Med Assoc; 2012 Jul 15; 111(7):355-63. PubMed ID: 22817812
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 99(12):E2702-8. PubMed ID: 25140394
    [Abstract] [Full Text] [Related]

  • 19. Agenesis of internal carotid artery associated with isolated growth hormone deficiency: a case report and literature review.
    Stagi S, Traficante G, Lapi E, Pantaleo M, Becciani S, Mortilla M, Seminara S, de Martino M.
    BMC Endocr Disord; 2015 Oct 19; 15():58. PubMed ID: 26481254
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 71(6):1450-5. PubMed ID: 12428212
    [Abstract] [Full Text] [Related]


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