RETT-SYNDROME

被引:13
作者
PERCY, AK
机构
关键词
D O I
10.1097/00019052-199504000-00013
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Rett syndrome is a unique and puzzling disorder noted in females, and is possibly caused by fundamental failures in critical brain connectivity during early infancy. Recent reports expand our understanding of the Rett syndrome phenotype, continue the pattern of inconsistent or inconclusive metabolic and genetic results, and extend observations regarding abnormal brain cytoarchitecture.
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页码:156 / 160
页数:5
相关论文
共 34 条
[1]  
ANVRET M, 1994, CLIN GENET, V45, P274
[2]  
ARMSTRONG DD, 1992, BRAIN DEV-JPN, V14, pS89
[3]  
BARRERA MN, 1993, VOX PAEDIATRICA, P26
[4]   RETT-SYNDROME IN A PATIENT WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY [J].
BEEKMAN, RP ;
HOFSTEE, N ;
SMEITINK, JAM ;
POLLTHE, BT ;
DURAN, M .
EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (04) :264-266
[5]   RETT-SYNDROME - 3-D CONFOCAL MICROSCOPY OF CORTICAL PYRAMIDAL DENDRITES AND AFFERENTS [J].
BELICHENKO, PV ;
OLDFORS, A ;
HAGBERG, B ;
DAHLSTROM, A .
NEUROREPORT, 1994, 5 (12) :1509-1513
[6]   RETT-SYNDROME - AN UPDATE AND REVIEW FOR THE PRIMARY PEDIATRICIAN [J].
BRADDOCK, SR ;
BRADDOCK, BA ;
GRAHAM, JM .
CLINICAL PEDIATRICS, 1993, 32 (10) :613-626
[7]   X-INACTIVATION IN RETT-SYNDROME - A PRELIMINARY-STUDY SHOWING PARTIAL PREFERENTIAL INACTIVATION OF PATERNAL-X WITH THE M27-BETA PROBE [J].
CAMUS, P ;
ABBADI, N ;
GILGENKRANTZ, S .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (03) :307-308
[8]  
CHIRON C, 1993, J NUCL MED, V34, P1717
[9]   NEUROPATHOLOGY OF RETT-SYNDROME - CASE-REPORT WITH NEURONAL AND MITOCHONDRIAL ABNORMALITIES IN THE BRAIN [J].
CORNFORD, ME ;
PHILIPPART, M ;
JACOBS, B ;
SCHEIBEL, AB ;
VINTERS, HV .
JOURNAL OF CHILD NEUROLOGY, 1994, 9 (04) :424-431
[10]   ISOLATION OF A YEAST ARTIFICIAL CHROMOSOME CONTIG SPANNING THE X-CHROMOSOMAL TRANSLOCATION BREAKPOINT IN A PATIENT WITH RETT-SYNDROME [J].
ELLISON, KA ;
ROTH, EJ ;
MCCABE, ERB ;
CHINAULT, AC ;
ZOGHBI, HY .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (07) :1124-1134