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143 related items for PubMed ID: 35295983

  • 1. 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; 13():810375. PubMed ID: 35295983
    [Abstract] [Full Text] [Related]

  • 2. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
    Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M.
    Fertil Steril; 2014 Oct; 102(4):1130-1136.e3. PubMed ID: 25064402
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
    Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF.
    Gene; 2014 Jan 25; 534(2):282-5. PubMed ID: 24211324
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 15; 13(4):552-60. PubMed ID: 25402377
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 14(10):1988-1993. PubMed ID: 27477789
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.
    Xu W, Plummer L, Quinton R, Swords F, Crowley WF, Seminara SB, Balasubramanian R.
    Cold Spring Harb Mol Case Stud; 2020 Jun 26; 6(3):. PubMed ID: 32376645
    [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. 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 26; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 14. 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 26; 96(4):E685-90. PubMed ID: 21289259
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
    Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
    Horm Res Paediatr; 2014 Dec 26; 81(2):133-8. PubMed ID: 24457197
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
    Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M.
    Endocr J; 2017 Aug 30; 64(8):813-817. PubMed ID: 28659543
    [Abstract] [Full Text] [Related]

  • 19. The role of SOX2 in hypogonadotropic hypogonadism.
    Tziaferi V, Kelberman D, Dattani MT.
    Sex Dev; 2008 Aug 30; 2(4-5):194-9. PubMed ID: 18987493
    [Abstract] [Full Text] [Related]

  • 20. SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
    Errichiello E, Gorgone C, Giuliano L, Iadarola B, Cosentino E, Rossato M, Kurtas NE, Delledonne M, Mattina T, Zuffardi O.
    Eur J Med Genet; 2018 Jun 30; 61(6):335-340. PubMed ID: 29371155
    [Abstract] [Full Text] [Related]

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