Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

被引:0
作者
Stromme, P
Mangelsdorf, ME
Shaw, MA
Lower, KM
Lewis, SMS
Bruyere, H
Lutcherath, V
Gedeon, AK
Wallace, RH
Scheffer, IE
Turner, G
Partington, M
Frints, S
Fryns, J
Sutherland, GR
Mulley, JC
Gecz, J
机构
[1] Womens & Childrens Hosp, Adelaide, SA, Australia
[2] Univ Adelaide, Adelaide, SA 5005, Australia
[3] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada
[4] Childrens & Womens Hlth Ctr British Columbia, Vancouver, BC, Canada
[5] Cent Hosp Rogaland, Stavanger, Norway
[6] Monash Med Ctr, Melbourne, Vic, Australia
[7] Royal Childrens Hosp, Melbourne, Vic, Australia
[8] Univ Newcastle, Waratah, Australia
[9] Hunter Genet, Waratah, Australia
[10] Katholieke Univ Leuven Hosp, Louvain, Belgium
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:63 / 63
页数:1
相关论文
共 50 条
[41]   Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males [J].
Karine Poirier ;
Fiona Francis ;
Ben Hamel ;
Claude Moraine ;
Jean Pierre Fryns ;
Hans H Ropers ;
Jamel Chelly ;
Thierry Bienvenu .
European Journal of Human Genetics, 2005, 13 :523-524
[42]   Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males [J].
Poirier, K ;
Francis, F ;
Hamel, B ;
Moraine, C ;
Fryns, JP ;
Ropers, HH ;
Chelly, J ;
Bienvenu, T .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (05) :523-524
[43]   X chromosome inactivation and X-linked mental retardation [J].
Willard, HF .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (01) :21-26
[44]   X-linked West Syndrome and mental retardation [J].
Fejerman, N ;
Cersosimo, R ;
Caraballo, R ;
Buompadre, C .
EPILEPSIA, 2003, 44 :73-73
[45]   Genetics and physiopathology of X-linked mental retardation [J].
Chelly, J ;
Mandel, JL .
NEUROSCIENCES IN THE POSTGENOMIC ERA, 2003, :135-158
[46]   X-LINKED MENTAL-RETARDATION REVISITED [J].
HOWARDPEEBLES, PN ;
ROBERTS, SF .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (01) :95-99
[47]   X-linked West Syndrome and mental retardation [J].
Oscar Cersosimo, Ricardo ;
Horacio Caraballo, Roberto ;
Celeste Buompadre, Maria ;
Fejerman, Natalio .
JOURNAL OF PEDIATRIC NEUROLOGY, 2005, 3 (02) :89-93
[48]   Monogenic causes of X-linked mental retardation [J].
Chelly, J ;
Mandel, JL .
NATURE REVIEWS GENETICS, 2001, 2 (09) :669-680
[49]   X-linked mental retardation with cerebellar hypoplasia [J].
Philip, NM ;
Villard, L ;
Raybaud, C ;
Chabrol, B .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 :221-222
[50]   FAMILIAL X-LINKED MENTAL-RETARDATION [J].
SORDO, MT ;
DEPABLO, CE ;
GUZMAN, M ;
CASTILLA, AQ ;
ROMAN, CS .
CLINICAL GENETICS, 1983, 23 (03) :247-247