| 1 | CPHD2, PROP1
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| Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).
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| Godi M, Mellone S, Tiradani L, Marabese R, Bardelli C, Salerno M, Prodam F, Bellone S, Petri A, Momigliano-Richiardi P, Bona G, Giordano M.
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| J Clin Endocrinol Metab 97(9):E1791-7. doi: 10.1210/jc.2012-1527. Epub 2012 Jun 28.
2012
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| 2 | CPHD2, PROP1
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| Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.
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| Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N, Bezlepkina O, Peterkova V, Frisch H, Cinek O, Child CJ, Blum WF, Lebl J.
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| Horm Res Paediatr 76(5):348-54. doi: 10.1159/000332693. Epub 2011 Oct 18.
2011
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| 3 | HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
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| Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
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| Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
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| Clin Endocrinol (Oxf) 62(2):163-8. 2005
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| 4 | CPHD2, PROP1
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| PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
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| Bottner A, Keller E, Kratzsch J, Stobbe H, Weigel JF, Keller A, Hirsch W, Kiess W, Blum WF, Pfaffle RW.
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| J Clin Endocrinol Metab 89(10):5256-65. 2004
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| 5 | CPHD2, PROP1
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| Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
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| Paracchini R, Giordano M, Corrias A, Mellone S, Matarazzo P, Bellone J, Momigliano-Richiardi P, Bona G.
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| Clin Genet 64(2):142-7. 2003
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| 6 | CPHD2, PROP1
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| Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.
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| Asteria C, Oliveira JH, Abucham J, Beck-Peccoz P.
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| Eur J Endocrinol 143(3):347-52. 2000
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| 7 | CPHD2, PROP1
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| Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.
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| Rosenbloom AL, et al.
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| J Clin Endocrinol Metab 84(1):50-7. 1999
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| 8 | CPHD2, PROP1
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| Combined pituitary hormone deficiency in an inbred brazilian kindred associated with a mutation in the PROP-1 gene.
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| Nogueira CR, et al.
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| Mol Genet Metab 67(1):58-61. 1999
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| 9 | CPHD2, PROP1
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| Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency.
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| Deladoey J, et al.
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| J Clin Endocrinol Metab 84(5):1645-50. 1999
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| 10 | CPHD2, KAL1, LEPR, OBS1
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| The Molecular Basis of Human Hypogonadotropic Hypogonadism.
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| Layman LC.
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| Mol Genet Metab 68(2):191-199 1999
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| 11 | CPHD2, PROP1
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| Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.
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| Fofanova O, et al.
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| J Clin Endocrinol Metab 83 : 2601-2604. 1998
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| 12 | CPHD2, PROP1
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| Mutations in PROP1 cause familial combined pituitary hormone deficiency.
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| Wu W, et al.
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| Nat Genet 18 : 147. 1998
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| 13 | CPHD2, PROP1
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| The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
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| Cogan JD, et al.
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| J Clin Endocrinol Metab 83 : 3346-3349. 1998
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| 14 | CPHD2, PROP1
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| Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitutiion of Arg-->Cys at codon 120 (R120C).
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| Fluck C, et al.
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| J Clin Endocrinol 83 : 3727-3734. 1998
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