The genetics of tethered cord syndrome

被引:17
作者
Bassuk, AG
Charrow, J
Gulbu, U
Epstein, LG
Craig, D
Stephan, DA
Jalali, A
Mukhopadhyay, A
Kessler, JA
Bowman, R
Mclone, D
Kim, F
Yagi, H
Matsuoka, R
机构
[1] Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA
[2] Dept Med Imaging, Chicago, IL USA
[3] Childrens Mem Hosp, Chicago, IL 60614 USA
[4] Dept Surg, Chicago, IL USA
[5] Heart Inst Japan, Tokyo, Japan
[6] Northwestern Univ, Feinberg Sch Med, Dept Pediat, Chicago, IL 60611 USA
[7] Translat Genomics Res Inst, Phoenix, AZ USA
关键词
D O I
10.1002/ajmg.a.30439
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:450 / 453
页数:4
相关论文
共 32 条
[1]   Frequency of Down's syndrome and neural-tube defects in the same family [J].
Barkai, G ;
Arbuzova, S ;
Berkenstadt, M ;
Heifetz, S ;
Cuckle, H .
LANCET, 2003, 361 (9366) :1331-1335
[2]   Involvement of the HLXB9 homeobox gene in Currarino syndrome [J].
Belloni, E ;
Martucciello, G ;
Verderio, D ;
Ponti, E ;
Seri, M ;
Jasonni, V ;
Torre, M ;
Ferrari, M ;
Tsui, LC ;
Scherer, SW .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :312-319
[3]   Interstitial microdeletion of chromosome 1p in two siblings [J].
Campbell, CGN ;
Wang, H ;
Hunter, GW .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (03) :289-294
[4]  
de Toni T, 1993, Minerva Pediatr, V45, P347
[5]   Hoxb13 mutations cause overgrowth of caudal spinal cord and tail vertebrae [J].
Economides, KD ;
Zeltser, L ;
Capecchi, MR .
DEVELOPMENTAL BIOLOGY, 2003, 256 (02) :317-330
[6]  
Graham GE, 1998, AM J MED GENET, V78, P254, DOI 10.1002/(SICI)1096-8628(19980707)78:3<254::AID-AJMG9>3.0.CO
[7]  
2-P
[8]   Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene [J].
Hagan, DM ;
Ross, AJ ;
Strachan, T ;
Lynch, SA ;
Ruiz-Perez, V ;
Wang, YM ;
Scambler, P ;
Custard, E ;
Reardon, W ;
Hassan, S ;
Muenke, M ;
Nixon, P ;
Papapetrou, C ;
Winter, RM ;
Edwards, Y ;
Morrison, K ;
Barrow, M ;
Cordier-Alex, MP ;
Correia, P ;
Galvin-Parton, PA ;
Gaskill, S ;
Gaskin, KJ ;
Garcia-Minaur, S ;
Gereige, R ;
Hayward, R ;
Homfray, T ;
McKeown, C ;
Murday, V ;
Plauchu, H ;
Shannon, N ;
Spitz, L ;
Lindsay, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (05) :1504-1515
[9]   A case of duplication of 13q32->qter and deletion of 18p11.32->pter with mild phenotype: Patau syndrome and duplications of 13q revisited [J].
Helali, N ;
Iafolla, AK ;
Kahler, SG ;
Qumsiyeh, MB .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (07) :600-602
[10]   DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 [J].
Jerome, LA ;
Papaioannou, VE .
NATURE GENETICS, 2001, 27 (03) :286-291