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Journal Abstract Search

235 related items for PubMed ID: 17527005

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  • 4. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
    Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K.
    J Clin Endocrinol Metab; 2003 Jan; 88(1):45-50. PubMed ID: 12519827
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  • 5. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
    Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ.
    J Clin Endocrinol Metab; 2008 Mar; 93(3):1062-71. PubMed ID: 18073311
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  • 6. A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.
    Tajima T, Yorifuji T, Ishizu K, Fujieda K.
    Exp Clin Endocrinol Diabetes; 2010 Jul; 118(7):405-9. PubMed ID: 19856252
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  • 7. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
    Sloop KW, Walvoord EC, Showalter AD, Pescovitz OH, Rhodes SJ.
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2701-8. PubMed ID: 10946868
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  • 8. Hypopituitarism oddities: congenital causes.
    Kelberman D, Dattani MT.
    Horm Res; 2007 Aug; 68 Suppl 5():138-44. PubMed ID: 18174732
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  • 9. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
    Melo ME, Marui S, Carvalho LR, Arnhold IJ, Leite CC, Mendonça BB, Knoepfelmacher M.
    Clin Endocrinol (Oxf); 2007 Jan; 66(1):95-102. PubMed ID: 17201807
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  • 11. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
    Diaczok D, Romero C, Zunich J, Marshall I, Radovick S.
    J Clin Endocrinol Metab; 2008 Nov; 93(11):4351-9. PubMed ID: 18728160
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  • 12. Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.
    Maghnie M, Ghirardello S, Genovese E.
    J Endocrinol Invest; 2004 May; 27(5):496-509. PubMed ID: 15279086
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  • 13. Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
    Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.
    J Clin Endocrinol Metab; 2017 Jan 01; 102(1):290-301. PubMed ID: 27820671
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  • 16. Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
    Vieira TC, Boldarine VT, Abucham J.
    Arq Bras Endocrinol Metabol; 2007 Oct 01; 51(7):1097-103. PubMed ID: 18157385
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  • 17. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
    de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC.
    Horm Res Paediatr; 2010 Oct 01; 73(5):363-71. PubMed ID: 20389107
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  • 18. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
    Riepe FG, Partsch CJ, Blankenstein O, Mönig H, Pfäffle RW, Sippell WG.
    J Clin Endocrinol Metab; 2001 Sep 01; 86(9):4353-7. PubMed ID: 11549674
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  • 19. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
    Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.
    J Clin Endocrinol Metab; 2009 Jan 01; 94(1):314-9. PubMed ID: 18854396
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  • 20. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.
    Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ.
    J Clin Endocrinol Metab; 1999 Mar 01; 84(3):942-5. PubMed ID: 10084575
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