메뉴 건너뛰기




Volumn 100, Issue 3-4, 1997, Pages 415-419

Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 14; CHROMOSOME 16; CHROMOSOME 2; CHROMOSOME 7; CHROMOSOME 9; CLINICAL ARTICLE; HUMAN; MEIOSIS; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; TANDEM REPEAT; UNIPARENTAL DISOMY;

EID: 0030930299     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050526     Document Type: Article
Times cited : (133)

References (32)
  • 1
    • 0027447719 scopus 로고
    • Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
    • Antonarakis SE, Avramopoulos D, Blouin J-L, Talbot Jr CC, Schinzel AA (1993) Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet 3:146-150
    • (1993) Nat Genet , vol.3 , pp. 146-150
    • Antonarakis, S.E.1    Avramopoulos, D.2    Blouin, J.-L.3    Talbot Jr., C.C.4    Schinzel, A.A.5
  • 3
  • 8
    • 0030064773 scopus 로고    scopus 로고
    • Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction
    • Eggermann T, Nöthen MM, Eiben B, Hofmann D, Hinkel K, Fimmers R, Schwanitz G (1996) Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum Genet 97:218-223
    • (1996) Hum Genet , vol.97 , pp. 218-223
    • Eggermann, T.1    Nöthen, M.M.2    Eiben, B.3    Hofmann, D.4    Hinkel, K.5    Fimmers, R.6    Schwanitz, G.7
  • 9
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • Engel E (1980) A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 10
    • 0028907505 scopus 로고
    • Trisomy 18: Studies of parent and cell division of origin and the effect of aberrant recombination on nondisjunction
    • Fisher JM, Harvey JF, Morton NE, Jacobs PA (1995) Trisomy 18: studies of parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am J Hum Genet 56:669-675
    • (1995) Am J Hum Genet , vol.56 , pp. 669-675
    • Fisher, J.M.1    Harvey, J.F.2    Morton, N.E.3    Jacobs, P.A.4
  • 12
    • 0029077269 scopus 로고
    • Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
    • Harrison K, Eisenger K, Anyane-Yeboa K, Brown S (1995) Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 58:147-151
    • (1995) Am J Med Genet , vol.58 , pp. 147-151
    • Harrison, K.1    Eisenger, K.2    Anyane-Yeboa, K.3    Brown, S.4
  • 14
    • 0028111681 scopus 로고
    • Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
    • Hoglund P, Holmberg C, Chapelle A de la, Kere J (1994) Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 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
  • 18
    • 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 (1995) Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 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
  • 19
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0000771975 scopus 로고
    • A syndrome of "intrauterine" dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies
    • Russell A (1954) A syndrome of "intrauterine" dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med 47:1040-1044
    • (1954) Proc R Soc Med , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 25
    • 78651048074 scopus 로고
    • Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins
    • Silver HK, Kiyasu W, George J, Deamer WC (1953) Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. Pediatrics 12:368-375
    • (1953) Pediatrics , vol.12 , pp. 368-375
    • Silver, H.K.1    Kiyasu, W.2    George, J.3    Deamer, W.C.4
  • 27
    • 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 (1992) Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51:1396-1405
    • (1992) Am J Hum Genet , vol.51 , pp. 1396-1405
    • Spotila, L.D.1    Sereda, L.2    Prockop, D.J.3
  • 28
    • 0344691599 scopus 로고
    • Maternal uniparental disorny of chromosome 14 in a boy with t(14q1q) associated with a paternal t(13q1q)
    • Tomkins DJ, Waye JS, Whelan DT, Cox DW (1994) Maternal uniparental disorny of chromosome 14 in a boy with t(14q1q) associated with a paternal t(13q1q). Am J Hum Genet 55S:685
    • (1994) Am J Hum Genet , vol.55 S , pp. 685
    • Tomkins, D.J.1    Waye, J.S.2    Whelan, D.T.3    Cox, D.W.4
  • 30
    • 0029797559 scopus 로고    scopus 로고
    • Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation
    • Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholm J (1996) Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 16:958-962
    • (1996) Prenat Diagn , vol.16 , pp. 958-962
    • Webb, A.L.1    Sturgiss, S.2    Warwicker, P.3    Robson, S.C.4    Goodship, J.A.5    Wolstenholm, J.6
  • 31
    • 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 (1995) Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 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
  • 32
    • 0026332706 scopus 로고
    • A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielinski J, Markiewicz, Rininsland F, Rommens J, Tsui L-C (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet 49:1256-1262
    • (1991) Am J Hum Genet , vol.49 , pp. 1256-1262
    • Zielinski, J.1    Markiewicz Rininsland, F.2    Rommens, J.3    Tsui, L.-C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.