Hyperechogenic bowel loops and meconiurn ileus in a fetus carrying the D1152H and G542X cystic fibrosis CFTR mutations

被引:5
作者
Orgad, S [1 ]
Berkenstadt, M
Achiron, R
Yahav, Y
Gazit, E
Barkai, G
Loewenthal, R
机构
[1] Chaim Sheba Med Ctr, Tissue Typing Lab, Cyst Fibrosis Genet Detect Unit, IL-52621 Tel Hashomer, Israel
[2] Chaim Sheba Med Ctr, Cyst Fibrosis Clin, IL-52621 Tel Hashomer, Israel
[3] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
[4] Chaim Sheba Med Ctr, Dept Obstet & Gynaecol, IL-52621 Tel Hashomer, Israel
关键词
D O I
10.1002/pd.362
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:636 / 637
页数:2
相关论文
共 9 条
[1]  
ABELIOVICH D, 1992, AM J HUM GENET, V51, P951
[2]  
Abeliovich D, 1996, EUR J HUM GENET, V4, P338
[3]  
FELDMANN D, 1995, CLIN CHEM, V41, P1675
[4]   A NOVEL MUTATION IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH PULMONARY-DISEASE BUT NORMAL SWEAT CHLORIDE CONCENTRATIONS [J].
HIGHSMITH, WE ;
BURCH, LH ;
ZHOU, ZQ ;
OLSEN, JC ;
BOAT, TE ;
SPOCK, A ;
GORVOY, JD ;
QUITTELL, L ;
FRIEDMAN, KJ ;
SILVERMAN, LM ;
BOUCHER, RC ;
KNOWLES, MR .
NEW ENGLAND JOURNAL OF MEDICINE, 1994, 331 (15) :974-980
[5]   Cystic fibrosis in Jews: Frequency and mutation distribution [J].
Kerem, B ;
Chiba-Falek, O ;
Kerem, E .
GENETIC TESTING, 1997, 1 (01) :35-39
[6]   HIGHLY VARIABLE INCIDENCE OF CYSTIC-FIBROSIS AND DIFFERENT MUTATION DISTRIBUTION AMONG DIFFERENT JEWISH ETHNIC-GROUPS IN ISRAEL [J].
KEREM, E ;
KALMAN, YM ;
YAHAV, Y ;
SHOSHANI, T ;
ABELIOVICH, D ;
SZEINBERG, A ;
RIVLIN, J ;
BLAU, H ;
TAL, A ;
BENTUR, L ;
SPRINGER, C ;
AUGARTEN, A ;
GODFREY, S ;
LERER, I ;
BRANSKI, D ;
FRIEDMAN, M ;
KEREM, B .
HUMAN GENETICS, 1995, 96 (02) :193-197
[7]  
Monaghan KG, 1999, PRENATAL DIAG, V19, P604, DOI 10.1002/(SICI)1097-0223(199907)19:7<604::AID-PD593>3.3.CO
[8]  
2-P
[9]   Prevalence of cystic fibrosis mutations in Israeli Jews [J].
Orgad, S ;
Neumann, S ;
Loewenthal, R ;
Netanelov-Shapira, I ;
Gazit, E .
GENETIC TESTING, 2001, 5 (01) :47-52