RECENT ADVANCES IN MOLECULAR ANALYSIS APPLIED TO DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY

被引:0
作者
MORNET, E
BOUE, J
CRETE, P
RAUXDEMAY, MC
KUTTEN, F
BOUE, A
机构
[1] HOP NECKER ENFANTS MALAD,ENDOCRINOL & MED REPROD LAB,F-75730 PARIS 15,FRANCE
[2] HOP TROUSSEAU,EXPLORAT FONCT LAB,F-75571 PARIS 12,FRANCE
来源
ARCHIVES FRANCAISES DE PEDIATRIE | 1992年 / 49卷 / 01期
关键词
ADRENAL HYPERPLASIA; CONGENITAL; MOLECULAR BIOLOGY; GENETIC MARKER; GENETIC COUNSELING; GENETIC TECHNICS;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:57 / 62
页数:6
相关论文
共 21 条
[11]  
MORNET E, 1991, AM J HUM GENET, V48, P79
[12]   1ST TRIMESTER PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY BY LINKAGE ANALYSIS TO HLA-DNA PROBES AND BY 17-HYDROXYPROGESTERONE DETERMINATION [J].
MORNET, E ;
BOUE, J ;
RAUXDEMAY, M ;
COUILLIN, P ;
OURY, JF ;
DUMEZ, Y ;
DAUSSET, J ;
COHEN, D ;
BOUE, A .
HUMAN GENETICS, 1986, 73 (04) :358-364
[13]   ASSOCIATIONS BETWEEN RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS DETECTED WITH A PROBE FOR HUMAN 21-HYDROXYLASE (21-OH) AND 2 CLINICAL FORMS OF 21-OH DEFICIENCY [J].
MORNET, E ;
COUILLIN, P ;
KUTTEN, F ;
RAUX, MC ;
WHITE, PC ;
COHEN, D ;
BOUE, A ;
DAUSSET, J .
HUMAN GENETICS, 1986, 74 (04) :402-408
[14]   DIRECT ANALYSIS OF CYP21B GENES IN 21-HYDROXYLASE DEFICIENCY USING POLYMERASE CHAIN-REACTION AMPLIFICATION [J].
OWERBACH, D ;
CRAWFORD, YM ;
DRAZNIN, MB .
MOLECULAR ENDOCRINOLOGY, 1990, 4 (01) :125-131
[15]   EARLY PRENATAL-DIAGNOSIS OF 21-HYDROXYLASE DEFICIENCY USING AMNIOTIC-FLUID 17-HYDROXYPROGESTERONE DETERMINATION AND DNA PROBES [J].
RAUXDEMAY, M ;
MORNET, E ;
BOUE, J ;
COUILLIN, P ;
OURY, JF ;
RAVISE, N ;
DELUCHAT, C ;
BOUE, A .
PRENATAL DIAGNOSIS, 1989, 9 (07) :457-466
[16]   DETECTION OF SPECIFIC SEQUENCES AMONG DNA FRAGMENTS SEPARATED BY GEL-ELECTROPHORESIS [J].
SOUTHERN, EM .
JOURNAL OF MOLECULAR BIOLOGY, 1975, 98 (03) :503-+
[17]   MOLECULAR GENETIC-ANALYSIS OF NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY ASSOCIATED WITH HLA-B14,DR1 [J].
SPEISER, PW ;
NEW, MI ;
WHITE, PC .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 319 (01) :19-23
[18]  
SPEISER PW, 1985, AM J HUM GENET, V37, P650
[19]  
STRACHAN T, 1987, LANCET, V2, P1272
[20]  
TUSIELUNA MT, 1990, J BIOL CHEM, V265, P20916