메뉴 건너뛰기




Volumn 49, Issue SUPPL. 2, 1998, Pages 32-36

Genetics of Silver-Russell syndrome

Author keywords

Genetics; Genomic imprinting; Insulin like growth factor 1 receptor; Silver Russell syndrome; Uniparental disomy

Indexed keywords

SOMATOMEDIN C RECEPTOR;

EID: 0031697916     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000053085     Document Type: Conference Paper
Times cited : (22)

References (28)
  • 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;12:368-376.
    • (1953) Pediatrics , vol.12 , pp. 368-376
    • 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, disproportionate short arms and other anomalies
    • Russell A: A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate 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 386 patients
    • Wollman HA, Kirchner T, Enders H, Preece MA, Ranke MB: Growth and symptoms in Silver-Russell syndrome: Review on the basis 386 patients. Eur J Pediatr 1995;154:958-968.
    • (1995) Eur J Pediatr , vol.154 , pp. 958-968
    • Wollman, H.A.1    Kirchner, T.2    Enders, H.3    Preece, M.A.4    Ranke, M.B.5
  • 4
    • 0017799416 scopus 로고
    • Phenotypic and genetic analysis of the Silver-Russell syndrome
    • Escobar V, Glieser S, Weaver DD: Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 1978;13:278-288.
    • (1978) Clin Genet , vol.13 , pp. 278-288
    • Escobar, V.1    Glieser, S.2    Weaver, D.D.3
  • 5
    • 0025060730 scopus 로고
    • Three-generation dominant transmission of the Silver-Russell syndrome
    • Duncan PA, Hall JG, Shapiro LR, Vibert BK: Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet 1990;35:245-250.
    • (1990) Am J Med Genet , vol.35 , pp. 245-250
    • Duncan, P.A.1    Hall, J.G.2    Shapiro, L.R.3    Vibert, B.K.4
  • 6
    • 3543078546 scopus 로고    scopus 로고
    • Silver-Russell syndrome in Bedouin sibs: Autosomal recessive inheritance confirmed
    • Gouda SA, Bastaki L, Al-Awadi SA, et al: Silver-Russell syndrome in Bedouin sibs: autosomal recessive inheritance confirmed (abstract). Hum Genet 1996;59(suppl):94.
    • (1996) Hum Genet , vol.59 , Issue.SUPPL. , pp. 94
    • Gouda, S.A.1    Bastaki, L.2    Al-Awadi, S.A.3
  • 7
    • 0025186103 scopus 로고
    • Monozygotic twins discordant for the Russell-Silver syndrome
    • Samn M, Lewis K, Blumberg B: Monozygotic twins discordant for the Russell-Silver syndrome. Am J Med Genet 1990;37:543-545.
    • (1990) Am J Med Genet , vol.37 , pp. 543-545
    • Samn, M.1    Lewis, K.2    Blumberg, B.3
  • 9
    • 0027321271 scopus 로고
    • Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
    • Midro AT, Debeck K, Sawicka A, Marcinkiewicz D, Rogowska M: Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet 1993;44:53-55.
    • (1993) Clin Genet , vol.44 , pp. 53-55
    • Midro, A.T.1    Debeck, K.2    Sawicka, A.3    Marcinkiewicz, D.4    Rogowska, M.5
  • 10
    • 3543118266 scopus 로고    scopus 로고
    • Positional cloning of a gene within chromosome 17q associated with Russell-Silver syndrome
    • Doerr S, Faerber C, Midro AT, LePaslier D, Hansmann I, Giannakudis J: Positional cloning of a gene within chromosome 17q associated with Russell-Silver syndrome (abstract). Hum Genet 1996;59(suppl):116.
    • (1996) Hum Genet , vol.59 , Issue.SUPPL. , pp. 116
    • Doerr, S.1    Faerber, C.2    Midro, A.T.3    LePaslier, D.4    Hansmann, I.5    Giannakudis, J.6
  • 11
    • 0027522656 scopus 로고
    • Ring chromosome 15 involving deletion of the insulinlike growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
    • Tamura T, Tohma T, Ohta T, et al: Ring chromosome 15 involving deletion of the insulinlike growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol 1993;2:106-113.
    • (1993) Clin Dysmorphol , vol.2 , pp. 106-113
    • Tamura, T.1    Tohma, T.2    Ohta, T.3
  • 12
    • 0026088502 scopus 로고
    • An infant with deletion of the distal long arm of chromosome 15 (q26.1->qter) and loss of insulin-like growth factor 1 receptor gene
    • Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG: An infant with deletion of the distal long arm of chromosome 15 (q26.1->qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 1991; 38:74-79.
    • (1991) Am J Med Genet , vol.38 , pp. 74-79
    • Roback, E.W.1    Barakat, A.J.2    Dev, V.G.3    Mbikay, M.4    Chrétien, M.5    Butler, M.G.6
  • 13
    • 0030003708 scopus 로고    scopus 로고
    • Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
    • Rogan PK, Seip JR, Driscoll DJ, et al: Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996;62:10-15.
    • (1996) Am J Med Genet , vol.62 , pp. 10-15
    • Rogan, P.K.1    Seip, J.R.2    Driscoll, D.J.3
  • 14
    • 0030713026 scopus 로고    scopus 로고
    • Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver-Russell syndrome probands and their families
    • in press
    • Abu-Amero S, Price SM, Wakeling E, et al: Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver-Russell syndrome probands and their families. Eur J Hum Genet 1997, in press.
    • (1997) Eur J Hum Genet
    • Abu-Amero, S.1    Price, S.M.2    Wakeling, E.3
  • 15
    • 0028273980 scopus 로고
    • An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features
    • Schinzel AA, Robinson WP, Binkert F, Fanconi A: An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Clin Dysmorph 1994;3: 63-69.
    • (1994) Clin Dysmorph , vol.3 , pp. 63-69
    • Schinzel, A.A.1    Robinson, W.P.2    Binkert, F.3    Fanconi, A.4
  • 16
    • 0016838274 scopus 로고
    • Trisomy-18 mosaicism with features of Russell-Silver syndrome
    • Chauvel PJ, Moore CM, Haslam RHA: Trisomy-18 mosaicism with features of Russell-Silver syndrome. Dev Med Child Neurol 1975;17: 220-224.
    • (1975) Dev Med Child Neurol , vol.17 , pp. 220-224
    • Chauvel, P.J.1    Moore, C.M.2    Haslam, R.H.A.3
  • 17
    • 0019416417 scopus 로고
    • Diploid-triploid mixoploidy: Clinical and cytogenetic aspects
    • Graham JM, Hoehn H, Lin MS, Smith DW: Diploid-triploid mixoploidy: Clinical and cytogenetic aspects. Pediatrics 1981;68:23-28.
    • (1981) Pediatrics , vol.68 , pp. 23-28
    • Graham, J.M.1    Hoehn, H.2    Lin, M.S.3    Smith, D.W.4
  • 18
    • 0028917529 scopus 로고
    • A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome
    • Webb T, Clarke D, Hardy CA, Kilpatrick MW, Corbett J, Dahlitz M: A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. J Med Genet 1995;32:181-185.
    • (1995) J Med Genet , vol.32 , pp. 181-185
    • Webb, T.1    Clarke, D.2    Hardy, C.A.3    Kilpatrick, M.W.4    Corbett, J.5    Dahlitz, M.6
  • 19
    • 0026080417 scopus 로고
    • Uniparental disomy in Angelman's syndrome
    • Malcolm S, Clayton-Smith J, Nichols M, et al: Uniparental disomy in Angelman's syndrome. Lancet 1991;337:694-697.
    • (1991) Lancet , vol.337 , pp. 694-697
    • Malcolm, S.1    Clayton-Smith, J.2    Nichols, M.3
  • 20
    • 0027830622 scopus 로고
    • Molecular investigation of familial Beckwith-Wiedemann syndrome: A model for paternal imprinting
    • Ramesar R, Babayar M, Viljoen D: Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting. Eur J Hum Genet 1993;1:109-113.
    • (1993) Eur J Hum Genet , vol.1 , pp. 109-113
    • Ramesar, R.1    Babayar, M.2    Viljoen, D.3
  • 21
    • 0024463137 scopus 로고
    • Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
    • Voss D, Ben-Simon E, Avital A, et al: Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 1989;45:373-380.
    • (1989) Am J Hum Genet , vol.45 , pp. 373-380
    • Voss, D.1    Ben-Simon, E.2    Avital, A.3
  • 22
    • 0023897290 scopus 로고
    • Uniparental disomy as a mechanism for human genetic disease
    • Spence JE, Persiaccante RG, Greig GM, et al: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1995; 42:217-226.
    • (1995) Am J Hum Genet , vol.42 , pp. 217-226
    • Spence, J.E.1    Persiaccante, R.G.2    Greig, G.M.3
  • 23
    • 0028867372 scopus 로고
    • Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
    • Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK: Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871-875.
    • (1995) J Med Genet , vol.32 , pp. 871-875
    • Langlois, S.1    Yong, S.L.2    Wilson, R.D.3    Kwong, L.C.4    Kalousek, D.K.5
  • 24
    • 0028914364 scopus 로고
    • Uniparental disomy 7 in Silver-Russell syndrome and primordial growth ratardation
    • Kotzot D, Schmitt S, Bernasconi F, et al: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth ratardation. Hum Mol Genet 1995;4:583-587.
    • (1995) Hum Mol Genet , vol.4 , pp. 583-587
    • Kotzot, D.1    Schmitt, S.2    Bernasconi, F.3
  • 25
    • 0031036341 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 in the Silver-Russell syndrome
    • Preece MA, Price SM, Davies V, et al: Maternal uniparental disomy 7 in the Silver-Russell syndrome. J Med Genet 1997;34:6-9.
    • (1997) J Med Genet , vol.34 , pp. 6-9
    • Preece, M.A.1    Price, S.M.2    Davies, V.3
  • 27
    • 0029114716 scopus 로고
    • Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
    • Kaneko-Ishino T, Kuroiwa Y, Miyoshi N, et al: Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nat Genet 1995;11:52-59.
    • (1995) Nat Genet , vol.11 , pp. 52-59
    • Kaneko-Ishino, T.1    Kuroiwa, Y.2    Miyoshi, N.3
  • 28
    • 0031172451 scopus 로고    scopus 로고
    • Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
    • Riesewijk AM, Hu L, Schulz U, et al: Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997;42:236-244.
    • (1997) Genomics , vol.42 , pp. 236-244
    • Riesewijk, A.M.1    Hu, L.2    Schulz, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.