Genetic disorders of cardiac morphogenesis - The DiGeorge and velocardiofacial syndromes

被引:54
作者
Goldmuntz, E [1 ]
Emanuel, BS [1 ]
机构
[1] CHILDRENS HOSP PITTSBURGH, DIV HUMAN GENET & MOL BIOL, PHILADELPHIA, PA 19104 USA
关键词
DiGeorge syndrome; velocardiofacial syndrome; chromosome; 22; microdeletion syndrome; conotruncal defects;
D O I
10.1161/01.RES.80.4.437
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:437 / 443
页数:7
相关论文
共 64 条
[1]   ISOLATION OF A ZINC-FINGER GENE CONSISTENTLY DELETED IN DIGEORGE-SYNDROME [J].
AUBRY, M ;
DEMCZUK, S ;
DESMAZE, C ;
AIKEM, M ;
AURIAS, A ;
JULIEN, JP ;
ROULEAU, GA .
HUMAN MOLECULAR GENETICS, 1993, 2 (10) :1583-1587
[2]   DIGEORGE SYNDROME AND 22Q11 REARRANGEMENTS [J].
AUGUSSEAU, S ;
JOUK, S ;
JALBERT, P ;
PRIEUR, M .
HUMAN GENETICS, 1986, 74 (02) :206-206
[3]   ALTERATION OF EARLY VASCULAR DEVELOPMENT AFTER ABLATION OF CRANIAL NEURAL CREST [J].
BOCKMAN, DE ;
REDMOND, ME ;
KIRBY, ML .
ANATOMICAL RECORD, 1989, 225 (03) :209-217
[4]   COMPARATIVE MAPPING OF 9 HUMAN CHROMOSOME-22Q LOCI IN THE LABORATORY MOUSE [J].
BUCAN, M ;
GATALICA, B ;
NOLAN, P ;
CHUNG, A ;
LEROUX, A ;
GROSSMAN, MH ;
NADEAU, JH ;
EMANUEL, BS ;
BUDARF, M .
HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1245-1252
[5]   CLONING A BALANCED TRANSLOCATION ASSOCIATED WITH DIGEORGE-SYNDROME AND IDENTIFICATION OF A DISRUPTED CANDIDATE GENE [J].
BUDARF, ML ;
COLLINS, J ;
GONG, WL ;
ROE, B ;
WANG, ZL ;
BAILEY, LC ;
SELLINGER, B ;
MICHAUD, D ;
DRISCOLL, DA ;
EMANUEL, BS .
NATURE GENETICS, 1995, 10 (03) :269-278
[6]   IDENTIFICATION OF A PATIENT WITH BERNARD-SOULIER SYNDROME AND A DELETION IN THE DIGEORGE/VELO-CARDIO-FACIAL CHROMOSOMAL REGION IN 22Q11.2 [J].
BUDARF, ML ;
KONKLE, BA ;
LUDLOW, LB ;
MICHAUD, D ;
LI, MG ;
YAMASHIRO, DJ ;
MCDONALDMCGINN, D ;
ZACKAI, EH ;
DRISCOLL, DA .
HUMAN MOLECULAR GENETICS, 1995, 4 (04) :763-766
[7]   CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11 [J].
BURN, J ;
TAKAO, A ;
WILSON, D ;
CROSS, I ;
MOMMA, K ;
WADEY, R ;
SCAMBLER, P ;
GOODSHIP, J .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :822-824
[8]   SPECTRUM OF THE DIGEORGE SYNDROME [J].
CONLEY, ME ;
BECKWITH, JB ;
MANCER, JFK ;
TENCKHOFF, L .
JOURNAL OF PEDIATRICS, 1979, 94 (06) :883-890
[9]   A common region of 10p deleted in DiGeorge and velocardiofacial syndromes [J].
Daw, SCM ;
Taylor, C ;
Kraman, M ;
Call, K ;
Mao, JI ;
Schuffenhauer, S ;
Meitinger, T ;
Lipson, T ;
Goodship, J ;
Scambler, P .
NATURE GENETICS, 1996, 13 (04) :458-460
[10]   A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME [J].
DELACHAPELLE, A ;
HERVA, R ;
KOIVISTO, M ;
AULA, P .
HUMAN GENETICS, 1981, 57 (03) :253-256