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Volumn 157, Issue 4, 1998, Pages 272-275

De novo mutations of the growth hormone gene: An important cause of congenital isolated growth hormone deficiency?

Author keywords

Gene; Growth hormone; Growth hormone deficiency; Short stature

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN;

EID: 0031956298     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050809     Document Type: Article
Times cited : (11)

References (11)
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    • Binder G, Brown M, Parks JS (1996) Mechanisms responsible for dominant expression of human growth hormone gene mutations. J Clin Endocrinol Metab 81:4047-4050
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4047-4050
    • Binder, G.1    Brown, M.2    Parks, J.S.3
  • 3
    • 0028955078 scopus 로고
    • Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
    • Binder G, Ranke MB (1995) Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 40:1247-1252
    • (1995) J Clin Endocrinol Metab , vol.40 , pp. 1247-1252
    • Binder, G.1    Ranke, M.B.2
  • 4
    • 0028037298 scopus 로고
    • Familial growth hormone deficiency: A model of dominant and recessive mutations affecting a monomeric protein
    • Cogan JD, Phillips III JA, Schenkmann SS, Milner RDG, Sakati N (1994) Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein. J Clin Endocrinol Metab 79:1261-1265
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1261-1265
    • Cogan, J.D.1    Phillips III, J.A.2    Schenkmann, S.S.3    Milner, R.D.G.4    Sakati, N.5
  • 6
    • 0027982794 scopus 로고
    • Genetic basis of endocrine disease 6. Molecular basis of familial human growth hormone deficiency
    • Phillips III JA, Cogan JD (1994) Genetic basis of endocrine disease 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 78:11-16
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 11-16
    • Phillips III, J.A.1    Cogan, J.D.2
  • 7
    • 0015968846 scopus 로고
    • Isolated growth hormone deficiency. Two families with autosomal dominant inheritance
    • Poskitt EME, Rayner PHW (1974) Isolated growth hormone deficiency. Two families with autosomal dominant inheritance. Arch Dis Child 49:55-59
    • (1974) Arch Dis Child , vol.49 , pp. 55-59
    • Poskitt, E.M.E.1    Rayner, P.H.W.2
  • 8
    • 7144228994 scopus 로고
    • Aetiology of idiopathic growth hormone deficiency in England and Wales
    • Rona RJ, Tanner JM (1981) Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child 56:922-928
    • (1981) Arch Dis Child , vol.56 , pp. 922-928
    • Rona, R.J.1    Tanner, J.M.2
  • 9
    • 0015310877 scopus 로고
    • Hereditary isolated somalotropin deficiency: Effects of human growth hormone administration
    • Sheikholislam BM, Stempfel RS (1972) Hereditary isolated somalotropin deficiency: effects of human growth hormone administration. Pediatrics 49:362-374
    • (1972) Pediatrics , vol.49 , pp. 362-374
    • Sheikholislam, B.M.1    Stempfel, R.S.2
  • 11
    • 0008888338 scopus 로고
    • Panorama of the diagnosis in the Kabi International Growth Study
    • Ranke MB, Gunnarsson R (eds) J and J Verlag, Mannheim
    • Wilton P (1994) Panorama of the diagnosis in the Kabi International Growth Study. In: Ranke MB, Gunnarsson R (eds) Progress in growth hormone therapy - 5 years of KIGS. J and J Verlag, Mannheim, pp 62-67
    • (1994) Progress in Growth Hormone Therapy - 5 Years of KIGS , pp. 62-67
    • Wilton, P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.