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Journal Abstract Search

127 related items for PubMed ID: 29175558

  • 1. 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]

  • 2. 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]

  • 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 15; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 Aug 15; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 71(6):1450-5. PubMed ID: 12428212
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 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. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.
    Eur J Hum Genet; 2007 Jan 26; 15(1):29-34. PubMed ID: 17033686
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 Apr 26; 13(4):552-60. PubMed ID: 25402377
    [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 Apr 26; 13():810375. PubMed ID: 35295983
    [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. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
    Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR.
    Genes (Basel); 2021 Jul 25; 12(8):. PubMed ID: 34440302
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.
    Mameesh MM, Al-Kindy A, Al-Yahyai M, Ganesh A.
    Ophthalmic Genet; 2019 Dec 03; 40(6):534-540. PubMed ID: 31718390
    [Abstract] [Full Text] [Related]

  • 19. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
    Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.
    JAMA Ophthalmol; 2014 Oct 03; 132(10):1215-20. PubMed ID: 24993872
    [Abstract] [Full Text] [Related]

  • 20. Microphthalmia with single central incisor and hypopituitarism.
    Artman HG, Boyden E.
    J Med Genet; 1990 Mar 03; 27(3):192-3. PubMed ID: 2325094
    [Abstract] [Full Text] [Related]

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