메뉴 건너뛰기




Volumn 62, Issue 2, 2005, Pages 163-168

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

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; TERATOGENIC AGENT; THYMINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX 1; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR PROP 1; UNCLASSIFIED DRUG;

EID: 13444254372     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2004.02189.x     Document Type: Article
Times cited : (85)

References (29)
  • 1
    • 0034056505 scopus 로고    scopus 로고
    • The molecular basis for developmental disorders of the pituitary gland in man
    • Dattani, M.T. & Robinson, I.C. (2000) The molecular basis for developmental disorders of the pituitary gland in man. Clinical Genetics, 57, 337-346.
    • (2000) Clinical Genetics , vol.57 , pp. 337-346
    • Dattani, M.T.1    Robinson, I.C.2
  • 12
    • 2942581169 scopus 로고    scopus 로고
    • Growth hormone deficiency and related disorders: Insights into causation, diagnosis and treatment
    • Dattani, M. & Preece, M. (2004) Growth hormone deficiency and related disorders: insights into causation, diagnosis and treatment. Lancet, 363, 1977-1987.
    • (2004) Lancet , vol.363 , pp. 1977-1987
    • Dattani, M.1    Preece, M.2
  • 15
    • 0026767630 scopus 로고
    • A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
    • Radovick, S., Du Nations, M.Y., Berg, L.A., Weintraub, B.D. & Wondisford, F.E. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science, 257, 1115-1118.
    • (1992) Science , vol.257 , pp. 1115-1118
    • Radovick, S.1    Du Nations, M.Y.2    Berg, L.A.3    Weintraub, B.D.4    Wondisford, F.E.5
  • 19
    • 0031960718 scopus 로고    scopus 로고
    • Description of a Brazilian patient bearing the R271W Pit-1 gene mutation
    • Rodrigues-Martineli, A.M., Braga, M., De Lacerda, L., Raskin, S. & Graf, H. (1998) Description of a Brazilian patient bearing the R271W Pit-1 gene mutation. Thyroid, 8, 229-304.
    • (1998) Thyroid , vol.8 , pp. 229-304
    • Rodrigues-Martineli, A.M.1    Braga, M.2    De Lacerda, L.3    Raskin, S.4    Graf, H.5
  • 23
    • 0035992791 scopus 로고    scopus 로고
    • Genetic defects in the development and function of the anterior pituitary gland
    • Cushman, L. J., Showalter, A.D. & Rhodes, S.J. (2002) Genetic defects in the development and function of the anterior pituitary gland. Annals of Medicine, 34, 179-191.
    • (2002) Annals of Medicine , vol.34 , pp. 179-191
    • Cushman, L.J.1    Showalter, A.D.2    Rhodes, S.J.3
  • 24
    • 0017803166 scopus 로고
    • Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism
    • Huseman, C.A., Kelch, R.P., Hopwood, N.J. & Zipf, W.B. (1978) Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitarism. Journal of Pediatrics, 92, 748-753.
    • (1978) Journal of Pediatrics , vol.92 , pp. 748-753
    • Huseman, C.A.1    Kelch, R.P.2    Hopwood, N.J.3    Zipf, W.B.4
  • 26
    • 0018790138 scopus 로고
    • Septo-optic dysplasia and maternal age
    • Lippe, B., Kaplan, S.A. & LaFranchi, S. (1979) Septo-optic dysplasia and maternal age. Lancet, 2, 92-93.
    • (1979) Lancet , vol.2 , pp. 92-93
    • Lippe, B.1    Kaplan, S.A.2    LaFranchi, S.3
  • 27
  • 28
    • 0027279096 scopus 로고
    • Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects
    • Coulter, C.L., Leech, R.W., Schaefer, G.B., Scheithauer, B.W. & Brumback, R.A. (1993) Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects. Archives of Neurology, 50, 771-775.
    • (1993) Archives of Neurology , vol.50 , pp. 771-775
    • Coulter, C.L.1    Leech, R.W.2    Schaefer, G.B.3    Scheithauer, B.W.4    Brumback, R.A.5
  • 29
    • 0842327236 scopus 로고    scopus 로고
    • Septo-optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis
    • Stevens, C.A. & Dobyns, W.B. (2004) Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis. American Journal of Medical Genetics, 125A, 12-16.
    • (2004) American Journal of Medical Genetics , vol.125 A , pp. 12-16
    • Stevens, C.A.1    Dobyns, W.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.