Fragile X syndrome

被引：9

作者：

Chakrabarti, L ^{[1
]}

Davies, KE ^{[1
]}

机构：

[1] UNIV OXFORD,DEPT BIOCHEM,GENET UNIT,OXFORD OX1 3QU,ENGLAND

来源：

CURRENT OPINION IN NEUROLOGY | 1997年 / 10卷 / 02期

关键词：

D O I：

10.1097/00019052-199704000-00012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably the developmental maturation of brain neurons.

引用

页码：142 / 147

页数：6

共 50 条

[41] HYPERACTIVITY AND THE FRAGILE X SYNDROME
EINFELD, S
HALL, W
LEVY, F
JOURNAL OF ABNORMAL CHILD PSYCHOLOGY, 1991, 19 (03) : 253 - 262
[42] THE FRAGILE X-SYNDROME
DELGIUDICE, E
POGGI, V
SARTORIO, R
CARROZZO, R
ROMANO, A
SIRONE, P
FIORE, M
RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1986, 12 (04): : 442 - 444
[43] Living with Fragile X syndrome
不详
ARCHIVES OF DISEASE IN CHILDHOOD, 2021, 106 (02) : 204 - 204
[44] THE FRAGILE-X SYNDROME
BROWN, WT
NEUROLOGIC CLINICS, 1989, 7 (01) : 107 - 121
[45] FRAGILE-X SYNDROME
BERNEY, T
PRACTITIONER, 1990, 234 (1496) : 946 - &
[46] FRAGILE-X SYNDROME
WIEBE, E
WIEBE, A
CANADIAN FAMILY PHYSICIAN, 1994, 40 : 290 - 295
[47] Psychomotricity and fragile X syndrome
Safont-Tria, NB
REVISTA DE NEUROLOGIA, 2001, 33 : S77 - S81
[48] THE FRAGILE-X SYNDROME
HO, HZ
GLAHN, TJ
HO, JC
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1988, 30 (02) : 257 - 261
[49] Astrocytes in fragile X syndrome
Talvio, Karo
Castren, Maija L.
FRONTIERS IN CELLULAR NEUROSCIENCE, 2024, 17
[50] NEUROANATOMY OF THE FRAGILE X SYNDROME
REISS, A
FREUND, L
AYLWARD, E
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 159 - 159

← 1 2 3 4 5 →