CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME

被引:227
作者
BALLABIO, A
BARDONI, B
CARROZZO, R
ANDRIA, G
BICK, D
CAMPBELL, L
HAMEL, B
FERGUSONSMITH, MA
GIMELLI, G
FRACCARO, M
MARASCHIO, P
ZUFFARDI, O
GUIOLI, S
CAMERINO, G
机构
[1] UNIV PAVIA,I-27100 PAVIA,ITALY
[2] UNIV REGGIO CALABRIA,DEPT PEDIAT,CATANZARO,ITALY
[3] NAPLES UNIV,DEPT PEDIAT,I-80138 NAPLES,ITALY
[4] UNIV TEXAS,HLTH SCI CTR,SAN ANTONIO,TX 78284
[5] CATHOLIC UNIV NIJMEGEN,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS
[6] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE,ENGLAND
[7] IST GIANNINA GASLINI,I-16148 GENOA,ITALY
关键词
D O I
10.1073/pnas.86.24.10001
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:10001 / 10005
页数:5
相关论文
共 42 条
  • [1] MAPPING THE TESTIS DETERMINANTS BY AN ANALYSIS OF Y-SPECIFIC SEQUENCES IN MALES WITH APPARENT XX AND XO KARYOTYPES AND FEMALES WITH XY KARYOTYPES
    AFFARA, NA
    FERGUSONSMITH, MA
    MAGENIS, RE
    TOLMIE, JL
    BOYD, E
    COOKE, A
    JAMIESON, D
    KWOK, K
    MITCHELL, M
    SNADDEN, L
    [J]. NUCLEIC ACIDS RESEARCH, 1987, 15 (18) : 7325 - 7342
  • [2] CHONDRODYSPLASIA PUNCTATA WITH X-Y TRANSLOCATION
    AGEMATSU, K
    KOIKE, K
    MOROSAWA, H
    NAKAHORI, Y
    NAKAGOME, Y
    AKABANE, T
    [J]. HUMAN GENETICS, 1988, 80 (01) : 105 - 107
  • [3] ANDRIA G, 1984, J INHERITED METAB S2, V7, P158
  • [4] LINKAGE ANALYSIS SUGGESTS AT LEAST 2 LOCI FOR X-LINKED NON-SPECIFIC MENTAL-RETARDATION
    ARVEILER, B
    ALEMBIK, Y
    HANAUER, A
    JACOBS, P
    TRANEBJAERG, L
    MIKKELSEN, M
    PUISSANT, H
    PIET, LL
    MANDEL, JL
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (1-2): : 473 - 483
  • [5] ISOLATION AND CHARACTERIZATION OF A STEROID SULFATASE CDNA CLONE - GENOMIC DELETIONS IN PATIENTS WITH X-CHROMOSOME-LINKED ICHTHYOSIS
    BALLABIO, A
    PARENTI, G
    CARROZZO, R
    SEBASTIO, G
    ANDRIA, G
    BUCKLE, V
    FRASER, N
    CRAIG, I
    ROCCHI, M
    ROMEO, G
    JOBSIS, AC
    PERSICO, MG
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (13) : 4519 - 4523
  • [6] MOLECULAR CHARACTERIZATION OF HUMAN X/Y TRANSLOCATIONS SUGGESTS THEIR ETIOLOGY THROUGH ABERRANT EXCHANGE BETWEEN HOMOLOGOUS SEQUENCES ON XP AND YQ
    BALLABIO, A
    CARROZZO, R
    GIL, A
    GILLARD, B
    AFFARA, N
    FERGUSONSMITH, MA
    FRASER, N
    CRAIG, I
    ROCCHI, M
    ROMEO, G
    ANDRIA, G
    [J]. ANNALS OF HUMAN GENETICS, 1989, 53 : 9 - 14
  • [7] X-LINKED ICHTHYOSIS, DUE TO STEROID SULFATASE DEFICIENCY, ASSOCIATED WITH KALLMANN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA) - LINKAGE RELATIONSHIPS WITH XG AND CLONED DNA-SEQUENCES FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
    BALLABIO, A
    PARENTI, G
    TIPPETT, P
    MONDELLO, C
    DIMAIO, S
    TENORE, A
    ANDRIA, G
    [J]. HUMAN GENETICS, 1986, 72 (03) : 237 - 240
  • [8] MOLECULAR HETEROGENEITY OF STEROID SULFATASE DEFICIENCY - A MULTICENTER STUDY ON 57 UNRELATED PATIENTS, AT DNA AND PROTEIN-LEVELS
    BALLABIO, A
    CARROZZO, R
    PARENTI, G
    GIL, A
    ZOLLO, M
    PERSICO, MG
    GILLARD, E
    AFFARA, N
    YATES, J
    FERGUSONSMITH, MA
    FRANTS, RR
    ERIKSSON, AW
    ANDRIA, G
    [J]. GENOMICS, 1989, 4 (01) : 36 - 40
  • [9] BALLABIO A, 1988, CLIN GENET, V34, P31
  • [10] BARDONI B, 1988, Genomics, V3, P32, DOI 10.1016/0888-7543(88)90155-3