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Journal Abstract Search

146 related items for PubMed ID: 24346842

  • 1. 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]

  • 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. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
    Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.
    Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
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  • 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; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 5. A mutation screen in patients with Kabuki syndrome.
    Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.
    Hum Genet; 2011 Dec; 130(6):715-24. PubMed ID: 21607748
    [Abstract] [Full Text] [Related]

  • 6. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.
    Mol Genet Metab; 2012 Nov; 107(3):627-9. PubMed ID: 22840376
    [Abstract] [Full Text] [Related]

  • 7. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.
    Orphanet J Rare Dis; 2011 Jun 09; 6():38. PubMed ID: 21658225
    [Abstract] [Full Text] [Related]

  • 8. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M.
    J Pediatr Hematol Oncol; 2013 Oct 09; 35(7):e314-6. PubMed ID: 23042018
    [Abstract] [Full Text] [Related]

  • 9. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
    Lu J, Mo G, Ling Y, Ji L.
    Mol Med Rep; 2016 Oct 09; 14(4):3641-5. PubMed ID: 27573763
    [Abstract] [Full Text] [Related]

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  • 11. 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 09; 102(4):1130-1136.e3. PubMed ID: 25064402
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  • 14. A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
    Bekircan-Kurt CE, Şimşek-Kiper PÖ, Boduroğlu K, Dericioğlu N.
    Turk J Pediatr; 2016 Oct 09; 58(1):97-100. PubMed ID: 27922244
    [Abstract] [Full Text] [Related]

  • 15. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
    Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D.
    BMC Med Genet; 2014 Jan 28; 15():15. PubMed ID: 24472332
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
    Moon JE, Lee SJ, Ko CW.
    BMC Med Genet; 2018 Jun 18; 19(1):102. PubMed ID: 29914387
    [Abstract] [Full Text] [Related]

  • 18. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
    Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ.
    Front Biosci; 2007 Jan 01; 12():2085-95. PubMed ID: 17127446
    [Abstract] [Full Text] [Related]

  • 19. Hypoglycemia in Kabuki syndrome.
    Subbarayan A, Hussain K.
    Am J Med Genet A; 2014 Feb 01; 164A(2):467-71. PubMed ID: 24311525
    [Abstract] [Full Text] [Related]

  • 20. 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]

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