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Journal Abstract Search

296 related items for PubMed ID: 18445675

  • 21.
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  • 22. 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
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  • 23. A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
    Reynaud R, Chadli-Chaieb M, Vallette-Kasic S, Barlier A, Sarles J, Pellegrini-Bouiller I, Enjalbert A, Chaieb L, Brue T.
    J Clin Endocrinol Metab; 2004 Nov; 89(11):5779-86. PubMed ID: 15531542
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  • 27. Genetic disorders of the pituitary.
    Cohen LE.
    Curr Opin Endocrinol Diabetes Obes; 2012 Feb; 19(1):33-9. PubMed ID: 22157402
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  • 29. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
    Pfaeffle RW, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Brämswig JH, Stobbe HM, Blum WF, Rhodes SJ.
    J Clin Endocrinol Metab; 2007 May; 92(5):1909-19. PubMed ID: 17327381
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  • 34. 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; 51(7):1097-103. PubMed ID: 18157385
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  • 37. A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
    Tenenbaum-Rakover Y, Sobrier ML, Amselem S.
    Clin Endocrinol (Oxf); 2011 Aug; 75(2):214-9. PubMed ID: 21521297
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  • 40. Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
    Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T.
    Eur J Endocrinol; 2011 Apr; 164(4):457-65. PubMed ID: 21270112
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