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Volumn 55, Issue 1, 1999, Pages 55-60

X-inactivation and marker studies in three families with incontinentia pigmenti: Implications for counselling and gene localisation

Author keywords

Incontinentia pigmenti; Mosaic; X inactivation; Xq28

Indexed keywords

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENETIC COUNSELING; GENETIC MARKER; HUMAN; INCONTINENTIA PIGMENTI; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0032944553     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550110.x     Document Type: Article
Times cited : (15)

References (13)
  • 1
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    • Incontinentia pigmenti (Bloch Sulzberger syndrome)
    • Landy SJ, Donnai D. Incontinentia pigmenti (Bloch Sulzberger syndrome). J Med Genet 1993: 30: 53-59.
    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 5
    • 0029846444 scopus 로고    scopus 로고
    • Selection against mutant alleles in blood leukocytes in a consistent feature in incontinentia pigmenti type 2
    • Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson D. Selection against mutant alleles in blood leukocytes in a consistent feature in incontinentia pigmenti type 2. Hum Mol Genet 1996: 5: 1777-1783.
    • (1996) Hum Mol Genet , vol.5 , pp. 1777-1783
    • Parrish, J.E.1    Scheuerle, A.E.2    Lewis, R.A.3    Levy, M.L.4    Nelson, D.5
  • 8
    • 0026788532 scopus 로고
    • X-inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X-linked lymphoproliferative disease
    • Harris A, Collins J, Vetrie D, Cole C, Bobrow M. X-inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X-linked lymphoproliferative disease. J Med Genet 1992: 29: 608-614.
    • (1992) J Med Genet , vol.29 , pp. 608-614
    • Harris, A.1    Collins, J.2    Vetrie, D.3    Cole, C.4    Bobrow, M.5
  • 9
    • 0026678490 scopus 로고
    • Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Med Genet 1992: 51: 1229-1239.
    • (1992) Am J Med Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 11
    • 0027976079 scopus 로고
    • Unstable premutation may explain mosaic disease expression of incontinentia pigmenti in males
    • Traup H, Vehring KH. Unstable premutation may explain mosaic disease expression of incontinentia pigmenti in males. Am J Med Genet 1994: 49: 397-398.
    • (1994) Am J Med Genet , vol.49 , pp. 397-398
    • Traup, H.1    Vehring, K.H.2
  • 12
    • 0029989446 scopus 로고    scopus 로고
    • Unstable premutation in incontinentia pigmenti
    • Hatchwell E. Unstable premutation in incontinentia pigmenti. J Med Genet 1996: 33: 349-350.
    • (1996) J Med Genet , vol.33 , pp. 349-350
    • Hatchwell, E.1
  • 13
    • 0027263804 scopus 로고
    • Three finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11
    • Hyden-Granskog C, Salonen R, von Koskull H. Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11. Hum Genet 1993: 91: 185-189.
    • (1993) Hum Genet , vol.91 , pp. 185-189
    • Hyden-Granskog, C.1    Salonen, R.2    Von Koskull, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.