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Journal Abstract Search

149 related items for PubMed ID: 23692781

  • 21. Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.
    Georgopoulos NA, Katsikis I, Giamalis P, Koika V, Adonakis G, Kourtis A, Kourounis G, Panidis D.
    Gynecol Endocrinol; 2006 Dec; 22(12):704-9. PubMed ID: 17162714
    [Abstract] [Full Text] [Related]

  • 22. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
    Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW.
    Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
    [Abstract] [Full Text] [Related]

  • 23. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
    Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T, Barlier A.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3329-36. PubMed ID: 16735499
    [Abstract] [Full Text] [Related]

  • 24. GH and TSH deficiency.
    Pfäffle RW, Martinez R, Kim C, Frisch H, Lebl J, Otten B, Heimann G.
    Exp Clin Endocrinol Diabetes; 1997 Sep; 105 Suppl 4():1-5. PubMed ID: 9439906
    [Abstract] [Full Text] [Related]

  • 25. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
    Fang Q, Benedetti AF, Ma Q, Gregory L, Li JZ, Dattani M, Sadeghi-Nejad A, Arnhold IJ, Mendonca BB, Camper SA, Carvalho LR.
    Clin Endocrinol (Oxf); 2016 Sep; 85(3):408-14. PubMed ID: 27000987
    [Abstract] [Full Text] [Related]

  • 26. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
    Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT.
    J Clin Endocrinol Metab; 2005 Aug; 90(8):4762-70. PubMed ID: 15928241
    [Abstract] [Full Text] [Related]

  • 27. Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
    McLennan K, Jeske Y, Cotterill A, Cowley D, Penfold J, Jones T, Howard N, Thomsett M, Choong C.
    Clin Endocrinol (Oxf); 2003 Jun; 58(6):785-94. PubMed ID: 12780757
    [Abstract] [Full Text] [Related]

  • 28. 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; 86(9):4353-7. PubMed ID: 11549674
    [Abstract] [Full Text] [Related]

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  • 30. Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
    Paracchini R, Giordano M, Corrias A, Mellone S, Matarazzo P, Bellone J, Momigliano-Richiardi P, Bona G.
    Clin Genet; 2003 Aug; 64(2):142-7. PubMed ID: 12859410
    [Abstract] [Full Text] [Related]

  • 31. A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.
    Snabboon T, Plengpanich W, Buranasupkajorn P, Khwanjaipanich R, Vasinanukorn P, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V.
    Horm Res; 2008 Aug; 69(1):60-4. PubMed ID: 18059085
    [Abstract] [Full Text] [Related]

  • 32. Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).
    Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT.
    Clin Endocrinol (Oxf); 2009 Jan; 70(1):96-103. PubMed ID: 19128366
    [Abstract] [Full Text] [Related]

  • 33. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
    Osorio MG, Kopp P, Marui S, Latronico AC, Mendonca BB, Arnhold IJ.
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2779-85. PubMed ID: 10946881
    [Abstract] [Full Text] [Related]

  • 34. Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.
    Pavel ME, Hensen J, Pfäffle R, Hahn EG, Dörr HG.
    Horm Res; 2003 Aug; 60(4):168-73. PubMed ID: 14530604
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. A critical functional missense mutation (H173R) in the bovine PROP1 gene significantly affects growth traits in cattle.
    Pan C, Wu C, Jia W, Xu Y, Lei C, Hu S, Lan X, Chen H.
    Gene; 2013 Dec 01; 531(2):398-402. PubMed ID: 24029076
    [Abstract] [Full Text] [Related]

  • 37. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
    Ziemnicka K, Budny B, Drobnik K, Baszko-Błaszyk D, Stajgis M, Katulska K, Waśko R, Wrotkowska E, Słomski R, Ruchała M.
    J Appl Genet; 2016 Aug 01; 57(3):373-81. PubMed ID: 26608600
    [Abstract] [Full Text] [Related]

  • 38. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
    Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE.
    J Clin Endocrinol Metab; 1998 Oct 01; 83(10):3727-34. PubMed ID: 9768691
    [Abstract] [Full Text] [Related]

  • 39. 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 01; 66(1):95-102. PubMed ID: 17201807
    [Abstract] [Full Text] [Related]

  • 40. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.
    Brown MR, Parks JS, Adess ME, Rich BH, Rosenthal IM, Voss TC, VanderHeyden TC, Hurley DL.
    Horm Res; 1998 Jan 01; 49(2):98-102. PubMed ID: 9485179
    [Abstract] [Full Text] [Related]

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