The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

被引:110
作者
Castermans, D
Wilquet, V
Parthoens, E
Huysmans, C
Steyaert, J
Swinnen, L
Fryns, JP
Van de Ven, W
Devriendt, K
机构
[1] Catholic Univ Louvain, Ctr Human Genet, Div Clin Genet, B-3000 Louvain, Belgium
[2] Catholic Univ Louvain, Dept Human Genet, Div Mol Oncol, B-3000 Louvain, Belgium
[3] Catholic Univ Louvain, Dept Child Psychiat, B-3000 Louvain, Belgium
[4] Child & Adolescent Psychiat, Neerpelt, Belgium
[5] Univ Maastricht, Clin Genet Ctr, Maastricht, Netherlands
关键词
D O I
10.1136/jmg.40.5.352
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:352 / 356
页数:5
相关论文
共 17 条
[1]   FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase [J].
AdamKlages, S ;
Adam, D ;
Wiegmann, K ;
Struve, S ;
Kolanus, W ;
SchneiderMergener, J ;
Kronke, M .
CELL, 1996, 86 (06) :937-947
[2]  
Barrett S, 1999, AM J MED GENET, V88, P609
[3]   How commonly are known medical conditions associated with autism? [J].
Barton, M ;
Volkmar, F .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1998, 28 (04) :273-278
[4]   Functional neuroimaging and childhood autism [J].
Boddaert, N ;
Zilbovicius, M .
PEDIATRIC RADIOLOGY, 2002, 32 (01) :1-7
[5]   Incorporating language phenotypes strengthens evidence of linkage to autism [J].
Bradford, Y ;
Haines, J ;
Hutcheson, H ;
Gardiner, M ;
Braun, T ;
Sheffield, V ;
Cassavant, T ;
Huang, W ;
Wang, K ;
Vieland, V ;
Folstein, S ;
Santangelo, S ;
Piven, J .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 105 (06) :539-547
[6]   Genetics of autism: Complex aetiology for a heterogeneous disorder [J].
Folstein, SE ;
Rosen-Sheidley, B .
NATURE REVIEWS GENETICS, 2001, 2 (12) :943-955
[7]   The epidemiology of autism: a review [J].
Fombonne, E .
PSYCHOLOGICAL MEDICINE, 1999, 29 (04) :769-786
[8]   ESTIMATES OF THE FREQUENCY OF CHROMOSOME-ABNORMALITIES DETECTABLE IN UNSELECTED NEWBORNS USING MODERATE LEVELS OF BANDING [J].
JACOBS, PA ;
BROWNE, C ;
GREGSON, N ;
JOYCE, C ;
WHITE, H .
JOURNAL OF MEDICAL GENETICS, 1992, 29 (02) :103-108
[9]   Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain [J].
Jogl, G ;
Shen, Y ;
Gebauer, D ;
Li, J ;
Wiegmann, K ;
Kashkar, H ;
Krönke, M ;
Tong, L .
EMBO JOURNAL, 2002, 21 (18) :4785-4795
[10]   A risk-factor model of epistatic interaction, focusing on autism [J].
Jones, MB ;
Szatmari, P .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (05) :558-565