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Volumn 5, Issue 12, 1996, Pages 1997-2003

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0029827344     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1997     Document Type: Article
Times cited : (137)

References (28)
  • 2
    • 0001283510 scopus 로고
    • Facioscapulohumeral dystrophy and the scapuloperoneal syndrome
    • McGraw-Hill, New York
    • Munsat, T.L. (1986) Facioscapulohumeral dystrophy and the scapuloperoneal syndrome. In: Myology. McGraw-Hill, New York.
    • (1986) Myology
    • Munsat, T.L.1
  • 3
    • 0025836092 scopus 로고
    • Genetic counselling in facioscapulohumeral muscular dystrophy
    • Lunt, P.W. and Harper, P.S. (1991) Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet., 28, 655-664.
    • (1991) J. Med. Genet. , vol.28 , pp. 655-664
    • Lunt, P.W.1    Harper, P.S.2
  • 4
    • 0025172041 scopus 로고
    • DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease
    • Upadhyaya, M., Lunt, P.W., Sarfarazi, M., Broadhead, W., Daniels, J.,Owen, M. and Harper, P.S. (1990) DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet, 336, 1320-1321.
    • (1990) Lancet , vol.336 , pp. 1320-1321
    • Upadhyaya, M.1    Lunt, P.W.2    Sarfarazi, M.3    Broadhead, W.4    Daniels, J.5    Owen, M.6    Harper, P.S.7
  • 17
    • 0030052273 scopus 로고    scopus 로고
    • Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases
    • Bakker, E., van der Wielen, M.J., Voorhoeve, E., Ippel, P.F., Padberg, G.W., Frants, R.R., Wijmenga, C. (1996) Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J. Med. Genet., 33, 29-35.
    • (1996) J. Med. Genet. , vol.33 , pp. 29-35
    • Bakker, E.1    Van Der Wielen, M.J.2    Voorhoeve, E.3    Ippel, P.F.4    Padberg, G.W.5    Frants, R.R.6    Wijmenga, C.7
  • 19
    • 0029913030 scopus 로고    scopus 로고
    • Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
    • Deidda, G., Cacurri, S., Piazzo, N., Felicetti, L. (1996) Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med Genet., 33, 361-365.
    • (1996) J. Med Genet. , vol.33 , pp. 361-365
    • Deidda, G.1    Cacurri, S.2    Piazzo, N.3    Felicetti, L.4
  • 21
    • 0028798545 scopus 로고
    • The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
    • Flint, J., Wilkie, A.O., Buckle, V.J., Winter, R.M., Holland, A.J., McDermid, H.E. (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genet., 9, 132-140.
    • (1995) Nature Genet. , vol.9 , pp. 132-140
    • Flint, J.1    Wilkie, A.O.2    Buckle, V.J.3    Winter, R.M.4    Holland, A.J.5    McDermid, H.E.6
  • 24
    • 0026094183 scopus 로고
    • Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization
    • Kuwano, A., Ledbetter, S.A., Dobyns, W.B., Emanuel, B.S., Ledbetter, D.H. (1991) Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet., 49, 707-714.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 707-714
    • Kuwano, A.1    Ledbetter, S.A.2    Dobyns, W.B.3    Emanuel, B.S.4    Ledbetter, D.H.5
  • 25
    • 0024384471 scopus 로고
    • Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)
    • Sonoda, T., Kawaguchi, K., Ohba, K., Madokoro, H., Ohdo, S. (1989) Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). Jinrui Idengaku Zasshi, 34, 129-134.
    • (1989) Jinrui Idengaku Zasshi , vol.34 , pp. 129-134
    • Sonoda, T.1    Kawaguchi, K.2    Ohba, K.3    Madokoro, H.4    Ohdo, S.5
  • 27
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from nucleated cells
    • Miller, S.A., Dykes, D.D., Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.