CONTIGUOUS GENE SYNDROMES - A COMPONENT OF RECOGNIZABLE SYNDROMES

被引:283
作者
SCHMICKEL, RD
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D O I
10.1016/S0022-3476(86)80377-8
中图分类号
R72 [儿科学];
学科分类号
100202 ;
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页码:231 / 241
页数:11
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  • [1] GENETIC-DISEASES - DIAGNOSIS BY RESTRICTION ENDONUCLEASE ANALYSIS
    ANTONARAKIS, SE
    PHILLIPS, JA
    KAZAZIAN, HH
    [J]. JOURNAL OF PEDIATRICS, 1982, 100 (06) : 845 - 856
  • [2] AARSKOG SYNDROME - FULL MALE AND FEMALE EXPRESSION ASSOCIATED WITH AN X-AUTOSOME TRANSLOCATION
    BAWLE, E
    TYRKUS, M
    LIPMAN, S
    BOZIMOWSKI, D
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (03): : 595 - 602
  • [3] BECKWITH J B, 1969, Birth Defects Original Article Series, V5, P188
  • [4] PATIENT WITH 13 CHROMOSOME DELETION - EVIDENCE THAT THE RETINOBLASTOMA GENE IS A RECESSIVE CANCER GENE
    BENEDICT, WF
    MURPHREE, AL
    BANERJEE, A
    SPINA, CA
    SPARKES, MC
    SPARKES, RS
    [J]. SCIENCE, 1983, 219 (4587) : 973 - 975
  • [5] GENETIC-ACTIVITY ALONG 315 KB OF THE DROSOPHILA CHROMOSOME
    BOSSY, B
    HALL, LMC
    SPIERER, P
    [J]. EMBO JOURNAL, 1984, 3 (11) : 2537 - 2541
  • [6] THE TRICHO-RHINO-PHALANGEAL SYNDROME(S) - CHROMOSOME-8 LONG ARM DELETION - IS THERE A SHORTEST REGION OF OVERLAP BETWEEN REPORTED CASES - TRP-I AND TRP-II SYNDROMES - ARE THEY SEPARATE ENTITIES
    BUHLER, EM
    MALIK, NJ
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (01): : 113 - 119
  • [7] INSITU HYBRIDIZATION AND TRANSLOCATION BREAKPOINT MAPPING .3. DIGEORGE SYNDROME WITH PARTIAL MONOSOMY OF CHROMOSOME-22
    CANNIZZARO, LA
    EMANUEL, BS
    [J]. CYTOGENETICS AND CELL GENETICS, 1985, 39 (03): : 179 - 183
  • [8] SPECTRUM OF THE DIGEORGE SYNDROME
    CAREY, JC
    [J]. JOURNAL OF PEDIATRICS, 1980, 96 (05) : 955 - 956
  • [9] EXPRESSION OF RECESSIVE ALLELES BY CHROMOSOMAL MECHANISMS IN RETINOBLASTOMA
    CAVENEE, WK
    DRYJA, TP
    PHILLIPS, RA
    BENEDICT, WF
    GODBOUT, R
    GALLIE, BL
    MURPHREE, AL
    STRONG, LC
    WHITE, RL
    [J]. NATURE, 1983, 305 (5937) : 779 - 784
  • [10] PRADER-WILLI SYNDROME - VARIABLE SEVERITY AND RECURRENCE RISK
    CLARREN, SK
    SMITH, DW
    [J]. AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1977, 131 (07): : 798 - 800