메뉴 건너뛰기




Volumn 6, Issue 2, 1998, Pages 114-120

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

Author keywords

Imprinting; PEG1 MEST; Silver Russell syndrome; Uniparental disomy

Indexed keywords

DNA; ENZYME;

EID: 0031969877     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200164     Document Type: Article
Times cited : (50)

References (31)
  • 1
    • 78651048074 scopus 로고
    • Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
    • Silver HK, Kiyasu W, George J, Deamer C: 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, C.4
  • 2
    • 0000771975 scopus 로고
    • A syndrome of 'intra-uterine dwarfism' recognizable at birth with craniofacial dysostosis, disproportionately short arms, and other anomalies
    • Russell A: A syndrome of 'intra-uterine 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
    • 0016804084 scopus 로고
    • The natural history of the Silver-Russell syndrome: A longitudinal study of thirty-nine cases
    • Tanner JM, Leharrage H, Cameron N: The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr Res 1957; 9: 611-623.
    • (1957) Pediatr Res , vol.9 , pp. 611-623
    • Tanner, J.M.1    Leharrage, H.2    Cameron, N.3
  • 4
    • 0026884148 scopus 로고
    • Autosomal recessive Silver-Russell syndrome
    • Teebi AS: Autosomal recessive Silver-Russell syndrome. Clin Dysmorphol 1992; 1: 151-156.
    • (1992) Clin Dysmorphol , vol.1 , pp. 151-156
    • Teebi, A.S.1
  • 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
    • 0030561975 scopus 로고    scopus 로고
    • Autosomal dominant Russell-Silver syndrome
    • Al-Fifi S, Teebi AS, Shevell M: Autosomal dominant Russell-Silver syndrome. Am J Med Genet 1996; 61: 96-97.
    • (1996) Am J Med Genet , vol.61 , pp. 96-97
    • Al-Fifi, S.1    Teebi, A.S.2    Shevell, M.3
  • 8
    • 0027321271 scopus 로고
    • Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
    • Midro AT, Debek 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    Debek, K.2    Sawicka, A.3    Marcinkiewicz, D.4    Rogowska, M.5
  • 9
    • 0027522656 scopus 로고
    • Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
    • Tamura AT, Tohma T, Ohta T et al: Ring chromosome 15 involving deletion of the insulin-like 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, A.T.1    Tohma, T.2    Ohta, T.3
  • 10
    • 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 Dysmorphol 1994; 3: 63-69.
    • (1994) Clin Dysmorphol , vol.3 , pp. 63-69
    • Schinzel, A.A.1    Robinson, W.P.2    Binkert, F.3    Fanconi, A.4
  • 11
    • 0024463137 scopus 로고
    • Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
    • Voss R, 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, R.1    Ben-Simon, E.2    Avital, A.3
  • 12
    • 0023897290 scopus 로고
    • Uniparental disomy as a mechanism for human genetic disease
    • Spence JE, Perciaccante RG, Greig GM et al: Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1989; 42: 217-226.
    • (1989) Am J Hum Genet , vol.42 , pp. 217-226
    • Spence, J.E.1    Perciaccante, R.G.2    Greig, G.M.3
  • 13
    • 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 Hun Genet 1992; 51: 1396-1405.
    • (1992) Am J Hun Genet , vol.51 , pp. 1396-1405
    • Spotila, L.D.1    Sereda, L.2    Prockop, D.J.3
  • 15
    • 0028914364 scopus 로고
    • Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
    • Kotzot D, Schmitt S, Bernasconi F et al: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. 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
  • 16
    • 0031036341 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 in Silver-Russell syndrome
    • Preece MA, Price SM, Davies V et al: Maternal uniparental disomy 7 in 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
  • 17
    • 0030930299 scopus 로고    scopus 로고
    • Molecuar studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
    • Eggermann T, Wollmann HA, Kuner R et al: Molecuar 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
  • 18
    • 0028111681 scopus 로고
    • Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
    • Höglund P, Holmberg C, de la Chapelle A, Kere J: Paternal isodisomy for chromosome 7 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
    • Höglund, P.1    Holmberg, C.2    De La Chapelle, A.3    Kere, J.4
  • 19
    • 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
  • 20
    • 0030947270 scopus 로고    scopus 로고
    • Human PEG1/ MEST, an imprinted gene on chromosome 7
    • Kobayashi S, Kohda T, Miyoshi N et al: Human PEG1/ MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997; 6: 781-786.
    • (1997) Hum Mol Genet , vol.6 , pp. 781-786
    • Kobayashi, S.1    Kohda, T.2    Miyoshi, N.3
  • 21
    • 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
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 23
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon genetic linkage map
    • Gyapay G, Morissette J, Vignal A: The 1993-1994 Genethon genetic linkage map. Nat Genet 1994; 7: 246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 24
    • 0030013386 scopus 로고    scopus 로고
    • Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: Refined genetic positioning and localization within a well-defined YAC contig
    • McGuire RE, Jordan SA, Braden VV et al: Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: Refined genetic positioning and localization within a well-defined YAC contig. Genome Res 1996; 6: 255-266.
    • (1996) Genome Res , vol.6 , pp. 255-266
    • McGuire, R.E.1    Jordan, S.A.2    Braden, V.V.3
  • 25
    • 0028229959 scopus 로고
    • Imprinting mutations suggested by abnormal DNA methylation patterns on familial Angelman and Prader-Willi syndromes
    • Reis A, Dittrich B, Greger V et al: Imprinting mutations suggested by abnormal DNA methylation patterns on familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994; 54: 741-747.
    • (1994) Am J Hum Genet , vol.54 , pp. 741-747
    • Reis, A.1    Dittrich, B.2    Greger, V.3
  • 26
    • 0028862472 scopus 로고
    • Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
    • Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher WR: Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 1995; 4: 2379-2385.
    • (1995) Hum Mol Genet , vol.4 , pp. 2379-2385
    • Reik, W.1    Brown, K.W.2    Schneid, H.3    Le Bouc, Y.4    Bickmore, W.5    Maher, W.R.6
  • 27
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndrome define an imprinting center on human chromosome 15
    • Buiting K, Saitoh S, Gross S et al: Inherited microdeletions in the Angelman and Prader-Willi syndrome define an imprinting center on human chromosome 15. Nat Genet 1995; 9: 395-400.
    • (1995) Nat Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 28
    • 0031230614 scopus 로고    scopus 로고
    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
    • Vu TH, Hoffman AR: Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 1997; 17: 12-13.
    • (1997) Nat Genet , vol.17 , pp. 12-13
    • Vu, T.H.1    Hoffman, A.R.2
  • 29
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
    • Rougeulle C, Glatt H, Lalande M: The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 1997; 17: 14-15.
    • (1997) Nat Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 31
    • 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. Nature Genet 1995; 11: 52-59.
    • (1995) Nature Genet , vol.11 , pp. 52-59
    • Kaneko-Ishino, T.1    Kuroiwa, Y.2    Miyoshi, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.