DELETION (13) (Q14.1Q14.3) IN 2 GENERATIONS - VARIABILITY OF OCULAR MANIFESTATIONS AND DEFINITION OF THE PHENOTYPE

被引:10
作者
WILSON, WG
CAMPOCHIARO, PA
CONWAY, BP
CARTER, BT
SUDDUTH, KW
WATSON, BA
SPARKES, RS
机构
[1] UNIV VIRGINIA,MED CTR,DEPT OPHTHALMOL,CHARLOTTESVILLE,VA 22908
[2] SALEM EYE CTR,SALEM,VA
[3] UNIV CALIF LOS ANGELES,CTR HLTH SCI,DEPT MED,LOS ANGELES,CA 90024
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1987年 / 28卷 / 03期
关键词
D O I
10.1002/ajmg.1320280315
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:675 / 683
页数:9
相关论文
共 18 条
[1]   ABNORMALITIES OF CHROMOSOME-13 IN RETINOBLASTOMAS FROM INDIVIDUALS WITH NORMAL CONSTITUTIONAL KARYOTYPES [J].
BALABAN, G ;
GILBERT, F ;
NICHOLS, W ;
MEADOWS, AT ;
SHIELDS, J .
CANCER GENETICS AND CYTOGENETICS, 1982, 6 (03) :213-221
[2]  
Balmer A, 1983, Dev Ophthalmol, V7, P36
[3]   EXPRESSION OF RECESSIVE ALLELES BY CHROMOSOMAL MECHANISMS IN RETINOBLASTOMA [J].
CAVENEE, WK ;
DRYJA, TP ;
PHILLIPS, RA ;
BENEDICT, WF ;
GODBOUT, R ;
GALLIE, BL ;
MURPHREE, AL ;
STRONG, LC ;
WHITE, RL .
NATURE, 1983, 305 (5937) :779-784
[4]   GENETIC-ORIGIN OF MUTATIONS PREDISPOSING TO RETINOBLASTOMA [J].
CAVENEE, WK ;
HANSEN, MF ;
NORDENSKJOLD, M ;
KOCK, E ;
MAUMENEE, I ;
SQUIRE, JA ;
PHILLIPS, RA ;
GALLIE, BL .
SCIENCE, 1985, 228 (4698) :501-503
[5]   HOMOZYGOSITY OF CHROMOSOME 13 IN RETINOBLASTOMA [J].
DRYJA, TP ;
CAVENEE, W ;
WHITE, R ;
RAPAPORT, JM ;
PETERSEN, R ;
ALBERT, DM ;
BRUNS, GAP .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (09) :550-553
[7]  
LIBERFARB RM, 1984, OPHTHALMOLOGY, V91, P1695
[8]  
LUNGAROTTI MS, 1979, HUM GENET, V52, P269
[9]   A RECOGNIZABLE PATTERN OF THE MIDFACE OF RETINOBLASTOMA PATIENTS WITH INTERSTITIAL DELETION OF 13Q [J].
MOTEGI, T ;
KAGA, M ;
YANAGAWA, Y ;
KADOWAKI, H ;
WATANABE, K ;
INOUE, A ;
KOMATSU, M ;
MINODA, K .
HUMAN GENETICS, 1983, 64 (02) :160-162
[10]   IS THE INTERSTITIAL DELETION OF 13Q IN RETINOBLASTOMA PATIENTS NOT TRANSMISSIBLE [J].
MOTEGI, T ;
KOMATSU, M ;
MINODA, K .
HUMAN GENETICS, 1983, 64 (02) :205-205