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Volumn 36, Issue 4, 2000, Pages 336-339

Family data in Rett syndrome: Association with other genetic disorders

Author keywords

Family; Genetics; Pedigree; Rett syndrome

Indexed keywords

ARTICLE; AUSTRALIA; FAMILY STUDY; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; HUMAN; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SEX DIFFERENCE;

EID: 0033865819     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.2000.00531.x     Document Type: Article
Times cited : (4)

References (22)
  • 1
    • 0029111944 scopus 로고
    • Rett syndrome: Clinical peculiarities and biological mysteries
    • Hagberg B. Rett syndrome: Clinical peculiarities and biological mysteries (Review). Acta Paediatr. 1995; 84: 971-6.
    • (1995) Acta Paediatr. , vol.84 , pp. 971-976
    • Hagberg, B.1
  • 3
    • 0033613894 scopus 로고    scopus 로고
    • Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls?
    • Leonard H, Fyfe S, Dye D, Leonard S. Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls? Am. J. Med. Genet. 1999; 82: 228-34.
    • (1999) Am. J. Med. Genet. , vol.82 , pp. 228-234
    • Leonard, H.1    Fyfe, S.2    Dye, D.3    Leonard, S.4
  • 4
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet. 1999; 23: 185-8.
    • (1999) Nature Genet. , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 5
    • 0033952401 scopus 로고    scopus 로고
    • Using genetic epidemiology to study Rett syndrome: The design of a case control study
    • Leonard H, Fyfe S, Dye D, Leonard S. Using genetic epidemiology to study Rett syndrome: The design of a case control study. Paediatr. Perinat. Epidemiol. 2000; 14: 85-95.
    • (2000) Paediatr. Perinat. Epidemiol. , vol.14 , pp. 85-95
    • Leonard, H.1    Fyfe, S.2    Dye, D.3    Leonard, S.4
  • 6
    • 0003436550 scopus 로고    scopus 로고
    • Center for Medical Genetics, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD
    • Online Mendelian Inheritance in Man, OMIM (TM). 1999, Center for Medical Genetics, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD. http://www.ncbi.nlm.nih.gov/omim/.
    • (1999) Online Mendelian Inheritance in Man, OMIM (TM)
  • 8
    • 0031784505 scopus 로고    scopus 로고
    • Linkage analysis in Rett syndrome families suggests that there maybe a critical region at Xq28
    • Webb T, Clarke A, Hanefeld F, Pereira JL, Rosenbloom L, Woods CG. Linkage analysis in Rett syndrome families suggests that there maybe a critical region at Xq28. J. Med. Genet. 1998; 35: 997-1003.
    • (1998) J. Med. Genet. , vol.35 , pp. 997-1003
    • Webb, T.1    Clarke, A.2    Hanefeld, F.3    Pereira, J.L.4    Rosenbloom, L.5    Woods, C.G.6
  • 9
    • 0032231652 scopus 로고    scopus 로고
    • Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
    • Sirianni N, Naidu S, Pereira J, Fernando R, Hoffman EP. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am. J. Hum. Genet. 1998; 63: 1552-8.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1552-1558
    • Sirianni, N.1    Naidu, S.2    Pereira, J.3    Fernando, R.4    Hoffman, E.P.5
  • 10
    • 17344364662 scopus 로고    scopus 로고
    • Chromosome mapping of Rett syndrome: A likely candidate region on the telomere of Xq
    • Xiang F, Zhang Z, Clarke A et al. Chromosome mapping of Rett syndrome: A likely candidate region on the telomere of Xq. J. Med. Genet. 1998; 35: 297-300.
    • (1998) J. Med. Genet. , vol.35 , pp. 297-300
    • Xiang, F.1    Zhang, Z.2    Clarke, A.3
  • 11
    • 0016681756 scopus 로고
    • Vision screening in a national sample of 11-year-old children
    • Peckham C, Adams B. Vision screening in a national sample of 11-year-old children. Child Care Health Dev. 1975; 1: 93-106.
    • (1975) Child Care Health Dev. , vol.1 , pp. 93-106
    • Peckham, C.1    Adams, B.2
  • 12
    • 0032791980 scopus 로고    scopus 로고
    • Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome
    • Fyfe S, Leonard H, Dye D, Leonard S. Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome. J. Child Neurol. 1999; 14: 440-5.
    • (1999) J. Child Neurol. , vol.14 , pp. 440-445
    • Fyfe, S.1    Leonard, H.2    Dye, D.3    Leonard, S.4
  • 14
    • 0025743706 scopus 로고
    • The aetiology of intellectual disability in Western Australia: A community-based study
    • Wellesley D, Hockey K, Stanley F. The aetiology of intellectual disability in Western Australia: A community-based study. Dev. Med. Child Neurol. 1991; 33: 963-73.
    • (1991) Dev. Med. Child Neurol. , vol.33 , pp. 963-973
    • Wellesley, D.1    Hockey, K.2    Stanley, F.3
  • 17
    • 0029026402 scopus 로고
    • Clinical delineation of Rett syndrome variants
    • Hagberg B. Clinical delineation of Rett syndrome variants. Neuropediatrics 1995; 26: 62.
    • (1995) Neuropediatrics , vol.26 , pp. 62
    • Hagberg, B.1
  • 19
    • 0026765446 scopus 로고
    • Age-related occurrence of signs and symptoms in the Rett syndrome
    • Witt Engerstrom, I. Age-related occurrence of signs and symptoms in the Rett syndrome. Brain Dev. 1992; 14 (Suppl.): S11-20.
    • (1992) Brain Dev. , vol.14 , Issue.SUPPL.
    • Witt Engerstrom, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.