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Journal Abstract Search

112 related items for PubMed ID: 23463539

  • 1. 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; 161A(5):1137-42. PubMed ID: 23463539
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  • 2. 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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  • 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 Dec; 92(6):382-389. PubMed ID: 31678974
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  • 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
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  • 5. 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 Mar 26; 13(4):552-60. PubMed ID: 25402377
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  • 6. 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 26; 14(10):1988-1993. PubMed ID: 27477789
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  • 9. 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 Oct 26; 13():810375. PubMed ID: 35295983
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  • 12. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
    Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V.
    Prenat Diagn; 2019 Oct 26; 39(11):1026-1034. PubMed ID: 31299102
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  • 15. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
    Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM.
    Am J Med Genet A; 2017 Feb 26; 173(2):435-443. PubMed ID: 27862890
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  • 16. 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
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  • 19. 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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  • 20. 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 15; 41(9):669-78. PubMed ID: 15342697
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