메뉴 건너뛰기




Volumn 9, Issue 3, 2000, Pages 157-162

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression

Author keywords

Growth retardation; Maternal UPD7 incidence; PEG1

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 14; CHROMOSOME 16; CHROMOSOME 7; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; INFANT; MALE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 0033935846     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009030-00001     Document Type: Article
Times cited : (15)

References (24)
  • 2
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N (1987). Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159.
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 6
    • 0030930299 scopus 로고    scopus 로고
    • Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
    • Eggermann T, Wollmann H, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB (1997). Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100:415-419.
    • (1997) Hum Genet , vol.100 , pp. 415-419
    • Eggermann, T.1    Wollmann, H.2    Kuner, R.3    Eggermann, K.4    Enders, H.5    Kaiser, P.6    Ranke, M.B.7
  • 8
    • 0030698319 scopus 로고    scopus 로고
    • Growth effects of uniparental disomies and the conflict theory of genomic imprinting
    • Hurst LD, McVean GT (1997). Growth effects of uniparental disomies and the conflict theory of genomic imprinting. TIG 13:436-443.
    • (1997) TIG , vol.13 , pp. 436-443
    • Hurst, L.D.1    McVean, G.T.2
  • 12
    • 0028004480 scopus 로고
    • Cognitive abilities associated with the Silver-Russell syndrome
    • Lai KY, Skuse D, Stanhope R, Hindmarsh P (1994). Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 71:490-496.
    • (1994) Arch Dis Child , vol.71 , pp. 490-496
    • Lai, K.Y.1    Skuse, D.2    Stanhope, R.3    Hindmarsh, P.4
  • 13
    • 0027321271 scopus 로고
    • Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one break-point at site 17q25
    • Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M (1993). Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one break-point at site 17q25. Clin Genet 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
  • 14
    • 0033042181 scopus 로고    scopus 로고
    • An analysis of the distribution of hetero- and isodisotnic regions of chromosome 7 in five muPD7 Silver-Russell syndrome probands
    • Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling RL, Stainer P, Moore GE (1999). An analysis of the distribution of hetero- and isodisotnic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 36:457-460.
    • (1999) J Med Genet , vol.36 , pp. 457-460
    • Preece, M.A.1    Abu-Amero, S.N.2    Ali, Z.3    Abu-Amero, K.K.4    Wakeling, R.L.5    Stainer, P.6    Moore, G.E.7
  • 17
    • 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
  • 19
    • 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: 368-376.
    • (1953) Pediatrics , vol.12 , pp. 368-376
    • Silver, H.K.1    Kiyasu, W.2    George, J.3    Deamer, W.C.4
  • 21
    • 0026749549 scopus 로고
    • Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 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 COLIA2 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
  • 22
    • 0016804084 scopus 로고
    • The natural hystory of the Silver-Russell syndrome: A longitudinal study of thirty-nine cases
    • Tanner JM, Lejarraga H, Cameron N (1975). The natural hystory of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr Res 9:611-623.
    • (1975) Pediatr Res , vol.9 , pp. 611-623
    • Tanner, J.M.1    Lejarraga, H.2    Cameron, N.3
  • 24
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.