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Journal Abstract Search

231 related items for PubMed ID: 25327282

  • 1. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
    Gregory LC, Gaston-Massuet C, Andoniadou CL, Carreno G, Webb EA, Kelberman D, McCabe MJ, Panagiotakopoulos L, Saldanha JW, Spoudeas HA, Torpiano J, Rossi M, Raine J, Canham N, Martinez-Barbera JP, Dattani MT.
    Clin Endocrinol (Oxf); 2015 May; 82(5):728-38. PubMed ID: 25327282
    [Abstract] [Full Text] [Related]

  • 2. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
    Paulo SS, Fernandes-Rosa FL, Turatti W, Coeli-Lacchini FB, Martinelli CE, Nakiri GS, Moreira AC, Santos AC, de Castro M, Antonini SR.
    Clin Endocrinol (Oxf); 2015 Apr; 82(4):562-9. PubMed ID: 25056824
    [Abstract] [Full Text] [Related]

  • 3. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ.
    J Clin Endocrinol Metab; 2010 Nov; 95(11):E384-91. PubMed ID: 20685856
    [Abstract] [Full Text] [Related]

  • 4. Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
    Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.
    J Clin Endocrinol Metab; 2013 Mar; 98(3):E567-75. PubMed ID: 23408573
    [Abstract] [Full Text] [Related]

  • 5. GLI2 mutations as a cause of hypopituitarism.
    Cohen LE.
    Pediatr Endocrinol Rev; 2012 Aug; 9(4):706-9. PubMed ID: 23304807
    [Abstract] [Full Text] [Related]

  • 6. Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
    Babu D, Fanelli A, Mellone S, Muniswamy R, Wasniewska M, Prodam F, Petri A, Bellone S, Salerno MC, Giordano M.
    Clin Endocrinol (Oxf); 2019 Mar; 90(3):449-456. PubMed ID: 30548673
    [Abstract] [Full Text] [Related]

  • 7. A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
    Valenza F, Cittaro D, Stupka E, Biancolini D, Patricelli MG, Bonanomi D, Lazarević D.
    PLoS One; 2019 Mar; 14(1):e0210097. PubMed ID: 30629636
    [Abstract] [Full Text] [Related]

  • 8. Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation.
    Park HL, Bai C, Platt KA, Matise MP, Beeghly A, Hui CC, Nakashima M, Joyner AL.
    Development; 2000 Apr; 127(8):1593-605. PubMed ID: 10725236
    [Abstract] [Full Text] [Related]

  • 9. Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Otto AP, Correa FA, Mendonca BB, Arnhold IJ.
    Clin Endocrinol (Oxf); 2013 Apr; 78(4):551-7. PubMed ID: 22967285
    [Abstract] [Full Text] [Related]

  • 10. Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.
    Seppala M, Depew MJ, Martinelli DC, Fan CM, Sharpe PT, Cobourne MT.
    J Clin Invest; 2007 Jun; 117(6):1575-84. PubMed ID: 17525797
    [Abstract] [Full Text] [Related]

  • 11. Human germline hedgehog pathway mutations predispose to fatty liver.
    Guillen-Sacoto MJ, Martinez AF, Abe Y, Kruszka P, Weiss K, Everson JL, Bataller R, Kleiner DE, Ward JM, Sulik KK, Lipinski RJ, Solomon BD, Muenke M.
    J Hepatol; 2017 Oct; 67(4):809-817. PubMed ID: 28645738
    [Abstract] [Full Text] [Related]

  • 12. The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
    Kietzman HW, Everson JL, Sulik KK, Lipinski RJ.
    PLoS One; 2014 Oct; 9(2):e89448. PubMed ID: 24586787
    [Abstract] [Full Text] [Related]

  • 13. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
    Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD.
    Am J Med Genet A; 2012 Jan; 158A(1):166-73. PubMed ID: 22106008
    [Abstract] [Full Text] [Related]

  • 14. The role of sonic hedgehog homologue signal pathway in hypospadias aetiology.
    Saraç M, Canpolat Ş, Önalan Etem E, Tektemur A, Tartar T, Bakal U, Kazez A.
    J Pediatr Urol; 2021 Oct; 17(5):630.e1-630.e7. PubMed ID: 34275739
    [Abstract] [Full Text] [Related]

  • 15. A binding site for Gli proteins is essential for HNF-3beta floor plate enhancer activity in transgenics and can respond to Shh in vitro.
    Sasaki H, Hui C, Nakafuku M, Kondoh H.
    Development; 1997 Apr; 124(7):1313-22. PubMed ID: 9118802
    [Abstract] [Full Text] [Related]

  • 16. A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1.
    Martinelli DC, Fan CM.
    J Biol Chem; 2009 Jul 17; 284(29):19169-72. PubMed ID: 19478089
    [Abstract] [Full Text] [Related]

  • 17. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
    Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M.
    Proc Natl Acad Sci U S A; 2003 Nov 11; 100(23):13424-9. PubMed ID: 14581620
    [Abstract] [Full Text] [Related]

  • 18. Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
    Corder ML, Berland S, Førsvoll JA, Banerjee I, Murray P, Bratland E, Gokhale D, Houge G, Douzgou S.
    Am J Med Genet A; 2022 Apr 11; 188(4):1065-1074. PubMed ID: 34921505
    [Abstract] [Full Text] [Related]

  • 19. Role of GLI2 in hypopituitarism phenotype.
    Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA.
    J Mol Endocrinol; 2015 Jun 11; 54(3):R141-50. PubMed ID: 25878059
    [Abstract] [Full Text] [Related]

  • 20. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
    Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M.
    J Med Genet; 2014 Jun 11; 51(6):413-8. PubMed ID: 24744436
    [Abstract] [Full Text] [Related]

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