CLINICAL, CYTOGENETIC, AND MOLECULAR DIAGNOSIS OF ANGELMAN SYNDROME - ESTIMATED PREVALENCE RATE IN A DANISH COUNTY

被引：107
作者：
PETERSEN, MB [1 ]
BRONDUMNIELSEN, K [1 ]
HANSEN, LK [1 ]
WULFF, K [1 ]
机构：
[1] ODENSE UNIV HOSP,DEPT PEDIAT,DK-5000 ODENSE,DENMARK
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 60卷 / 03期
关键词：
D O I：
10.1002/ajmg.1320600317
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：261 / 262
页数：2
相关论文
共 9 条
[1]   MOLECULAR STUDY OF CHROMOSOME-15 IN 22 PATIENTS WITH ANGELMANS SYNDROME [J].
BEUTEN, J ;
MANGELSCHOTS, K ;
BUNTINX, I ;
COUCKE, P ;
BROUWER, OF ;
HENNEKAM, RCM ;
VAN BROECKHOVEN, C ;
WILLEMS, PJ .
HUMAN GENETICS, 1993, 90 (05) :489-495
[2]   CLINICAL RESEARCH ON ANGELMAN SYNDROME IN THE UNITED-KINGDOM - OBSERVATIONS ON 82 AFFECTED INDIVIDUALS [J].
CLAYTONSMITH, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01) :12-15
[3]   ANGELMAN SYNDROME [J].
CLAYTONSMITH, J ;
PEMBREY, ME .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (06) :412-415
[4]  
KNOLL JHM, 1990, AM J HUM GENET, V47, P149
[5]   ANGELMAN AND PRADER-WILLI SYNDROMES SHARE A COMMON CHROMOSOME-15 DELETION BUT DIFFER IN PARENTAL ORIGIN OF THE DELETION [J].
KNOLL, JHM ;
NICHOLLS, RD ;
MAGENIS, RE ;
GRAHAM, JM ;
LALANDE, M ;
LATT, SA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :285-290
[6]  
Kuwano Akira, 1992, Human Molecular Genetics, V1, P417, DOI 10.1093/hmg/1.6.417
[7]   UNIPARENTAL PATERNAL DISOMY IN ANGELMANS SYNDROME [J].
MALCOLM, S ;
CLAYTONSMITH, J ;
NICHOLS, M ;
ROBB, S ;
WEBB, T ;
ARMOUR, JAL ;
JEFFREYS, AJ ;
PEMBREY, ME .
LANCET, 1991, 337 (8743) :694-697
[8]   MATERNAL BUT NOT PATERNAL TRANSMISSION OF 15Q11-13-LINKED NONDELETION ANGELMAN SYNDROME LEADS TO PHENOTYPIC-EXPRESSION [J].
WAGSTAFF, J ;
KNOLL, JHM ;
GLATT, KA ;
SHUGART, YY ;
SOMMER, A ;
LALANDE, M .
NATURE GENETICS, 1992, 1 (04) :291-294
[9]   CYTOGENETIC AND MOLECULAR ANALYSIS IN ANGELMAN SYNDROME [J].
ZACKOWSKI, JL ;
NICHOLLS, RD ;
GRAY, BA ;
BENTWILLIAMS, A ;
GOTTLIEB, W ;
HARRIS, PJ ;
WATERS, MF ;
DRISCOLL, DJ ;
ZORI, RT ;
WILLIAMS, CA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (01) :7-11
1