Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia

被引:67
作者
Pan, YZ
McCaskill, CD
Thompson, KH
Hicks, J
Casey, B
Shaffer, LG
Craigen, WJ
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA
[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
关键词
D O I
10.1086/301857
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1551 / 1555
页数:5
相关论文
共 35 条
  • [1] ISODISOMY OF CHROMOSOME-6 IN A NEWBORN WITH METHYLMALONIC ACIDEMIA AND AGENESIS OF PANCREATIC BETA-CELLS CAUSING DIABETES-MELLITUS
    ABRAMOWICZ, MJ
    ANDRIEN, M
    DUPONT, E
    DORCHY, H
    PARMA, J
    DUPREZ, L
    LEDLEY, FD
    COURTENS, W
    VAMOS, E
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (01) : 418 - 421
  • [2] Afzelius B., 1995, The Metabolic and Molecular Bases of Inherited Disease, P3943
  • [3] Benlian P, 1996, AM J HUM GENET, V59, P431
  • [4] CYSTIC-FIBROSIS IN A PATIENT WITH KARTAGENER SYNDROME
    BURNELL, RH
    ROBERTSON, EF
    [J]. AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1974, 127 (05): : 746 - 747
  • [5] MAPPING A GENE FOR FAMILIAL SITUS ABNORMALITIES TO HUMAN-CHROMOSOME XQ24-Q27.1
    CASEY, B
    DEVOTO, M
    JONES, KL
    BALLABIO, A
    [J]. NATURE GENETICS, 1993, 5 (04) : 403 - 407
  • [6] DIFFERENTIAL ACTIVITY OF MATERNALLY AND PATERNALLY DERIVED CHROMOSOME REGIONS IN MICE
    CATTANACH, BM
    KIRK, M
    [J]. NATURE, 1985, 315 (6019) : 496 - 498
  • [7] Relationship between asymmetric nodal expression and the direction of embryonic turning
    Collignon, J
    Varlet, I
    Robertson, EJ
    [J]. NATURE, 1996, 381 (6578) : 155 - 158
  • [8] EGGERDING FA, 1994, AM J HUM GENET, V55, P253
  • [9] A NEW GENETIC CONCEPT - UNIPARENTAL DISOMY AND ITS POTENTIAL EFFECT, ISODISOMY
    ENGEL, E
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 6 (02): : 137 - 143
  • [10] A submicroscopic deletion in Xq26 associated with familial situs ambiguus
    Ferrero, GB
    Gebbia, M
    Pilia, G
    Witte, D
    Peier, A
    Hopkin, RJ
    Craigen, WJ
    Shaffer, LG
    Schlessinger, D
    Ballabio, A
    Casey, B
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (02) : 395 - 401