Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay

被引:17
作者
Dietz, LG
Wylie, AA
Rauen, KA
Murphy, SK
Jirtle, RL
Cotter, PD
机构
[1] US Labs, Div Genet, Irvine, CA 92612 USA
[2] Childrens Hosp & Res Ctr Oakland, Div Med Genet, Oakland, CA 94609 USA
[3] Childrens Hosp & Res Ctr Oakland, Dept Pathol, Oakland, CA 94609 USA
[4] Duke Univ, Med Ctr, Dept Radiat Oncol, Durham, NC 27710 USA
[5] Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA
[6] Univ Calif San Francisco, Ctr Comprehens Canc, San Francisco, CA 94115 USA
关键词
D O I
10.1136/jmg.40.4.e46
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:3
相关论文
共 29 条
[1]  
Berends MJW, 1999, AM J MED GENET, V84, P76, DOI 10.1002/(SICI)1096-8628(19990507)84:1<76::AID-AJMG16>3.0.CO
[2]  
2-F
[3]   MENTAL-RETARDATION, DISTINCT FACIAL CHANGES, SHORT STATURE, OBESITY, AND HYPOGONADISM - A NEW X-LINKED MENTAL-RETARDATION SYNDROME [J].
CHUDLEY, AE ;
LOWRY, RB ;
HOAR, DI .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (04) :741-751
[4]  
Cotter PD, 1997, AM J MED GENET, V70, P74, DOI 10.1002/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO
[5]  
2-U
[6]   CLINICAL AND MOLECULAR STUDIES IN FRAGILE-X PATIENTS WITH A PRADER-WILLI-LIKE PHENOTYPE [J].
DEVRIES, BBA ;
FRYNS, JP ;
BUTLER, MG ;
CANZIANI, F ;
WESBYVANSWAAY, E ;
VANHEMEL, JO ;
OOSTRA, BA ;
HALLEY, DJJ ;
NIERMEIJER, MF .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (09) :761-766
[7]  
DITTRICH B, 1992, HUM GENET, V90, P313
[8]  
Engel E, 2002, GENOMIC IMPRINTING U
[9]  
Gilhuis H J, 2000, Eur J Paediatr Neurol, V4, P39
[10]   The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria [J].
Gunay-Aygun, M ;
Schwartz, S ;
Heeger, S ;
O'Riordan, MA ;
Cassidy, SB .
PEDIATRICS, 2001, 108 (05) :art. no.-e92