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Volumn 49, Issue 3, 1999, Pages 123-128

Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients

Author keywords

IGFBP1; IGFBP3; Mutations; Silver Russell syndrome

Indexed keywords

DNA; DNA FRAGMENT; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 3;

EID: 0033051747     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022858     Document Type: Article
Times cited : (22)

References (30)
  • 1
    • 78651048074 scopus 로고
    • Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins
    • Silver HK, Kiyasu W, George J. Deamer WC: Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. Pediatrics 1953;12:368-375.
    • (1953) Pediatrics , vol.12 , pp. 368-375
    • Silver, H.K.1    Kiyasu, W.2    George, J.3    Deamer, W.C.4
  • 2
    • 0000771975 scopus 로고
    • A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies
    • Russell A: A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med 1954;47: 1040-1044.
    • (1954) Proc R Soc Med , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 3
    • 0028827636 scopus 로고
    • Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
    • Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB: Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients. Eur J Pediatr 1995;154:958-968.
    • (1995) Eur J Pediatr , vol.154 , pp. 958-968
    • Wollmann, H.A.1    Kirchner, T.2    Enders, H.3    Preece, M.A.4    Ranke, M.B.5
  • 4
    • 0028111681 scopus 로고
    • Paternal isodisomy for chromosome is compatible with normal growth and development in a patient with congenital chloride diarrhea
    • Hoglund P, Holmberg C, de la Chapelle A, Kere J: Paternal isodisomy for chromosome is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 1994;55:747-752.
    • (1994) Am J Hum Genet , vol.55 , pp. 747-752
    • Hoglund, P.1    Holmberg, C.2    De La Chapelle, A.3    Kere, J.4
  • 7
    • 0030930299 scopus 로고    scopus 로고
    • Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
    • Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB: Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 1997;100:415-419.
    • (1997) Hum Genet , vol.100 , pp. 415-419
    • Eggermann, T.1    Wollmann, H.A.2    Kuner, R.3    Eggermann, K.4    Enders, H.5    Kaiser, P.6    Ranke, M.B.7
  • 11
    • 0026749549 scopus 로고
    • Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus
    • Spotila LD, Sereda L, Prockop DJ: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 1992;51: 1396-1405.
    • (1992) Am J Hum Genet , vol.51 , pp. 1396-1405
    • Spotila, L.D.1    Sereda, L.2    Prockop, D.J.3
  • 12
    • 0027942438 scopus 로고
    • Insulin-like growth factors and their binding proteins in normal and abnormal human fetal growth
    • Chard T: Insulin-like growth factors and their binding proteins in normal and abnormal human fetal growth. Growth Regul 1994;4:91-100.
    • (1994) Growth Regul , vol.4 , pp. 91-100
    • Chard, T.1
  • 14
    • 0023805634 scopus 로고
    • Serum half-life and biological activity of mutants of human insulin-like growth factor I which do not bind to serum binding proteins
    • Cascieri MA, Saperstein R, Hayes NS, Green BG, Chicchi GG, Applebaum J, Bayne ML: Serum half-life and biological activity of mutants of human insulin-like growth factor I which do not bind to serum binding proteins. Endocrinology 1988;123:373-381.
    • (1988) Endocrinology , vol.123 , pp. 373-381
    • Cascieri, M.A.1    Saperstein, R.2    Hayes, N.S.3    Green, B.G.4    Chicchi, G.G.5    Applebaum, J.6    Bayne, M.L.7
  • 15
    • 0026550374 scopus 로고
    • Contiguous localisation of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7
    • Ehrenborg E, Larsson C, Stern I, Janson M, Powell DR, Luthman H: Contiguous localisation of the genes encoding human insulin-like growth factor binding proteins 1 (IGBP1) and 3 (IGBP3) on chromosome 7. Genomics 1992; 12:497-502.
    • (1992) Genomics , vol.12 , pp. 497-502
    • Ehrenborg, E.1    Larsson, C.2    Stern, I.3    Janson, M.4    Powell, D.R.5    Luthman, H.6
  • 16
    • 0023695823 scopus 로고
    • Primary structure of human insulin-like growth factor-binding protein/placental protein 12 and tissue-specific expression of its mRNA
    • Julkunen M, Koistinen R, Aalto-Setälä K, Seppälä M, Jänne OA, Kontula K: Primary structure of human insulin-like growth factor-binding protein/placental protein 12 and tissue-specific expression of its mRNA. FEBS Lett 1988;236:295-302.
    • (1988) FEBS Lett , vol.236 , pp. 295-302
    • Julkunen, M.1    Koistinen, R.2    Aalto-Setälä, K.3    Seppälä, M.4    Jänne, O.A.5    Kontula, K.6
  • 18
    • 0031980399 scopus 로고    scopus 로고
    • Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of tissues
    • Wakeling EL, Abu-Amero SN, Stanier P, Preece MA, Moore GE: Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of tissues. Eur J Hum Genet 1998;6:158-164.
    • (1998) Eur J Hum Genet , vol.6 , pp. 158-164
    • Wakeling, E.L.1    Abu-Amero, S.N.2    Stanier, P.3    Preece, M.A.4    Moore, G.E.5
  • 19
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using polymerase chain reaction. Genomics 1989;5:874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 20
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0000262278 scopus 로고
    • GENEPOP (version 1.2): A population genetics software for exact tests and ecumeniscism
    • Raymond M, Rousset F: GENEPOP (version 1.2): A population genetics software for exact tests and ecumeniscism. J Hered 1995;86:485-486.
    • (1995) J Hered , vol.86 , pp. 485-486
    • Raymond, M.1    Rousset, F.2
  • 23
    • 0024361866 scopus 로고
    • The statistical analysis of mitochondrial DNA polymorphism: Chi-square and the problem of small samples
    • Roff DA, Bentzen P: The statistical analysis of mitochondrial DNA polymorphism: Chi-square and the problem of small samples. Molec Biol Evol 1989;6:539-545.
    • (1989) Molec Biol Evol , vol.6 , pp. 539-545
    • Roff, D.A.1    Bentzen, P.2
  • 25
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K, Yandell DW: How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-346.
    • (1993) Hum Mutat , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 26
    • 0030587572 scopus 로고    scopus 로고
    • Genomic imprinting and chromosomal localization of the human MEST gene
    • Nishita Y, Yoshida I, Sado T, Nobuo T: Genomic imprinting and chromosomal localization of the human MEST gene. Genomics 1996;36:539-542.
    • (1996) Genomics , vol.36 , pp. 539-542
    • Nishita, Y.1    Yoshida, I.2    Sado, T.3    Nobuo, T.4
  • 29
    • 0028899741 scopus 로고
    • Promotor-specific IGF2 imprinting status and its plasticity during human liver development
    • Ekström TJ, Cui H, Li X, Ohlsson R: Promotor-specific IGF2 imprinting status and its plasticity during human liver development. Development 1995;121:309-316.
    • (1995) Development , vol.121 , pp. 309-316
    • Ekström, T.J.1    Cui, H.2    Li, X.3    Ohlsson, R.4
  • 30
    • 0025351191 scopus 로고
    • Insulin-like growth factor binding protein-3. Organization of the human chromosomal gene and demonstration of promotor activity
    • Cubbage ML, Suwanichkul A, Powell DR: Insulin-like growth factor binding protein-3. Organization of the human chromosomal gene and demonstration of promotor activity. J Biol Chem 1990;265:12642-12649.
    • (1990) J Biol Chem , vol.265 , pp. 12642-12649
    • Cubbage, M.L.1    Suwanichkul, A.2    Powell, D.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.