The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia

被引:53
作者
Dobyns, William B. [1 ,2 ,3 ]
机构
[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
[2] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA
[3] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA
关键词
MILLER-DIEKER SYNDROME; NEURONAL MIGRATION; CEREBELLAR HYPOPLASIA; MUTATIONS; LIS1; MALFORMATIONS; ARX; PHENOTYPE; DELETION; FEMALES;
D O I
10.1111/j.1528-1167.2009.02433.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:5 / 9
页数:5
相关论文
共 30 条
[1]   THE SPECTRUM OF LISSENCEPHALY - REPORT OF 10 PATIENTS ANALYZED BY MAGNETIC-RESONANCE-IMAGING [J].
BARKOVICH, AJ ;
KOCH, TK ;
CARROL, CL .
ANNALS OF NEUROLOGY, 1991, 30 (02) :139-146
[2]   BAND HETEROTOPIA - CORRELATION OF OUTCOME WITH MAGNETIC-RESONANCE-IMAGING PARAMETERS [J].
BARKOVICH, AJ ;
GUERRINI, R ;
BATTAGLIA, G ;
KALIFA, G ;
NGUYEN, T ;
PARMEGGIANI, A ;
SANTUCCI, M ;
GIOVANARDIROSSI, P ;
GRANATA, T ;
DINCERTI, L .
ANNALS OF NEUROLOGY, 1994, 36 (04) :609-617
[3]   BAND HETEROTOPIAS - A NEWLY RECOGNIZED NEURONAL MIGRATION ANOMALY [J].
BARKOVICH, AJ ;
JACKSON, DE ;
BOYER, RS .
RADIOLOGY, 1989, 171 (02) :455-458
[4]   Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification [J].
Boycott, KM ;
Flavelle, S ;
Bureau, A ;
Glass, HC ;
Fujiwara, TM ;
Wirrell, E ;
Davey, K ;
Chudley, AE ;
Scott, JN ;
McLeod, DR ;
Parboosingh, JS .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (03) :477-483
[5]  
CULP W, 1914, FALL VOLLKOMMENEM MA
[6]   Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females [J].
D'Agostino, MD ;
Bernasconi, A ;
Das, S ;
Bastos, A ;
Valerio, RM ;
Palmini, A ;
da Costa, JC ;
Scheffer, IE ;
Berkovic, S ;
Guerrini, R ;
Dravet, C ;
Ono, J ;
Gigli, G ;
Federico, A ;
Booth, F ;
Bernardi, B ;
Volpi, L ;
Tassinari, CA ;
Guggenheim, MA ;
Ledbetter, DH ;
Gleeson, JG ;
Lopes-Cendes, I ;
Vossler, DG ;
Malaspina, E ;
Franzoni, E ;
Sartori, RJ ;
Mitchell, MH ;
Mercho, S ;
Dubeau, F ;
Andermann, F ;
Dobyns, WB ;
Andermann, E .
BRAIN, 2002, 125 :2507-2522
[7]   LISSENCEPHALY - 2 CASES [J].
DAUBE, JR ;
CHOU, SM .
NEUROLOGY, 1966, 16 (2P1) :179-&
[8]  
DIEKER H, 1969, Birth Defects Original Article Series, V5, P53
[9]   MILLER-DIEKER SYNDROME - LISSENCEPHALY AND MONOSOMY-17P [J].
DOBYNS, WB ;
STRATTON, RF ;
PARKE, JT ;
GREENBERG, F ;
NUSSBAUM, RL ;
LEDBETTER, DH .
JOURNAL OF PEDIATRICS, 1983, 102 (04) :552-558
[10]  
DOBYNS WB, 1991, AM J HUM GENET, V48, P584