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Journal Abstract Search

211 related items for PubMed ID: 9768691

  • 1. 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; 83(10):3727-34. PubMed ID: 9768691
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  • 2. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.
    Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Lourenço DM, Mellon PL.
    J Clin Endocrinol Metab; 2000 Jan; 85(1):390-7. PubMed ID: 10634415
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  • 3. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.
    Agarwal G, Bhatia V, Cook S, Thomas PQ.
    J Clin Endocrinol Metab; 2000 Dec; 85(12):4556-61. PubMed ID: 11134108
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  • 4. "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
    Deladoëy J, Flück C, Büyükgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE.
    J Clin Endocrinol Metab; 1999 May; 84(5):1645-50. PubMed ID: 10323394
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  • 5. PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
    Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M.
    Clin Endocrinol (Oxf); 2006 Oct; 65(4):479-85. PubMed ID: 16984240
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  • 6. Mutations in PROP1 cause familial combined pituitary hormone deficiency.
    Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA, Rosenfeld MG.
    Nat Genet; 1998 Feb; 18(2):147-9. PubMed ID: 9462743
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  • 9. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
    Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.
    Clin Endocrinol (Oxf); 2005 Jul; 63(1):10-8. PubMed ID: 15963055
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  • 10. 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
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  • 11. Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
    Vieira TC, Dias da Silva MR, Cerutti JM, Brunner E, Borges M, Arnaldi LT, Kopp P, Abucham J.
    J Clin Endocrinol Metab; 2003 Jan; 88(1):38-44. PubMed ID: 12519826
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  • 12. 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.
    Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
    Clin Endocrinol (Oxf); 2005 Feb; 62(2):163-8. PubMed ID: 15670191
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  • 13. 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
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  • 15. Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.
    Fofanova O, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II, Yamashita S.
    J Clin Endocrinol Metab; 1998 Jul; 83(7):2601-4. PubMed ID: 9661653
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  • 18. 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
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  • 19. 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 01; 64(2):142-7. PubMed ID: 12859410
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  • 20. 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 01; 58(6):785-94. PubMed ID: 12780757
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