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SpringerLink电子期刊(28)
NATURE电子期刊(1)
Elsevier电子期刊(54)
在“
Elsevier电子期刊
”中,
命中:
54
条,耗时:小于0.01 秒
在所有数据库中总计命中:
83
条
1.
ARHGAP4 mutated in a Chinese intellectually challenged family
作者:
Fuhua Liu
a
;
b
;
1
;
Hui Guo
c
;
1
;
Minglin Ou
a
;
Xianliang Hou
a
;
Guoping Sun
d
;
Weiwei Gong
a
;
Huanyun Jing
a
;
Qiupei Tan
a
;
Wen Xue
a
;
Yong Dai
c
;
daiyong2222@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Weiguo Sui
a
;
suiwg@163.com" class="auth_mail" title="E-mail the corresponding author
关键词:
XLMR
;
X-linked mental retardation
;
EEG
;
Electroencephalogram
;
MRI
;
Magnetic resonance imaging
;
PHA
;
Phytohemagglutinin
;
LM-PCR
;
Ligation-mediated polymerase chain reaction
;
SNPs
;
Single nucleotide polymorphisms
;
InDels
;
Insertions or deletions
;
BWA
;
Burrows&ndash
;
Wheeler alignment tool
;
SIFT
;
Sorting intolerant from tolerant
;
FISH
;
Fluorescence in situ hybridization
;
IQ
;
Intelligence quotient
;
NDI
;
Nephrogenic diabetes insipidus
刊名:Gene
出版年:2016
2.
XLMR
protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration
作者:
Takuya Magome
;
Tsuyoshi Hattori
;
Manabu Taniguchi
;
Toshiko Ishikawa
;
Shingo Miyata
;
Kohei Yamada
;
Hironori Takamura
;
Shinsuke Matsuzaki
;
Akira Ito
;
Masaya Tohyama
;
Taiichi Katayama
关键词:
XLMR
;
X-linked mental retardation
;
Xpn
;
XLMR
protein related to neurite extension
;
GAPDH
;
glyceraldehyde 3-phosphate dehydrogenase
;
GFP
;
green fluorescent protein
;
RFP
;
red fluorescent protein
;
DAPI
;
6-diamidino-2-phenylindole dihydrochloride
;
NGF
;
nerve growth factor
;
qRT-PCR
;
quantitative real-time PCR
;
ATRX
;
alpha thalassemia/mental retardation syndrome X-linked
;
CP
;
cortical plate
;
DCX
;
doublecortin
;
TUBA1A
;
tubulin alpha1A
;
VLDLR
;
very low density lipoprotein receptor
;
ARX
;
aristaless relat
刊名:Neurochemistry International
出版年:November, 2013
3.
Transient expression of Xpn, an
XLMR
protein related to neurite extension, during brain development and participation in neurite outgrowth
作者:
T. Ishikawa
a
;
b
;
&dagger
;
;
S. Miyata
a
;
c
;
d
;
&dagger
;
;
smiyata@anat2.med.osaka-u.ac.jp
;
Y. Koyama
a
;
K. Yoshikawa
a
;
T. Hattori
e
;
N. Kumamoto
a
;
K. Shingaki
a
;
T. Katayama
b
;
M. Tohyama
a
;
b
;
c
;
d
关键词:
ATRX
;
¦Á-thalassemia mental retardation X-linked
;
BSA
;
bovine serum albumin
;
CA
;
cornu ammonis
;
DAPI
;
phenylindole dihydrochloride
;
DMEM
;
Dulbecco&rsquo
;
s modified Eagle&rsquo
;
s medium
;
E
;
embryonic day
;
GAPDH
;
glyceraldehyde-3-phosphate dehydrogenase
;
HA
刊名:Neuroscience
出版年:2012
4.
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
作者:
Viola Alesi
;
Marta Bertoli
;
Giuseppe Barrano
;
Barbara Torres
;
Silvia Pusceddu
;
Myriam Pastorino
;
Chiara Perria
;
Anna Maria Nardone
;
Antonio Novelli
;
Gigliola Serra
关键词:
XLMR
;
X-linked mental retardation
;
Array-CGH
;
comparative genomic hybridisation array
;
FISH
;
fluorescent in situ hybridisation
;
RT-PCR
;
real-time polymerase chain reaction
;
qPCR
;
quantitative polymerase chain reaction
;
CARS
;
Childhood Autism Rating Scale
刊名:Gene
出版年:2012
5.
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
作者:
Delphine Rocas
a
;
Eudeline Alix
a
;
Jessica Michel
a
;
Marie-Pierre Cordier
a
;
Audrey Labalme
a
;
Hé
;
lè
;
ne Guilbert
a
;
Marianne Till
a
;
Caroline Schluth-Bolard
a
;
b
;
Pascale de Haas
c
;
Jé
;
rô
;
me Massardier
d
;
Vincent des Portes
e
;
Patrick Edery
a
;
b
;
Renaud Touraine
f
;
Laurent Guibaud
g
;
Alexandre Vasiljevic
h
;
Damien Sanlaville
a
;
b
;
damien.sanlaville@chu-lyon.fr
;
damien.sanlaville@gmail.com
关键词:
OPHN1
;
Rho-GTPase-activating protein
;
Cerebellar hypoplasia
;
Syndromic X-linked mental retardation
;
Array CGH
;
Purkinje cells
刊名:European Journal of Medical Genetics
出版年:2013
6.
Molecular diagnostic dilemmas in Rett syndrome
作者:
Val Zvereff
;
Lori Carpenter
;
Dagny Patton
;
Huong Cabral
;
Debra Rita
;
Ashley Wilson
;
Kwame Anyane-Yeboa
;
Larry White
;
Kenneth J. Friedman
关键词:
MECP2
;
Rett syndrome
;
Autism
;
Mental retardation
;
Mutational analysis
;
XLMR
刊名:Brain and Development
出版年:2012
7.
A new X-linked mental retardation (
XLMR
) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26
作者:
Deirdre D. Cilliers
;
Rahat Parveen
;
Peter Clayton
;
Stephen A. Cairns
;
Sheila Clarke
;
Stephen M. Shalet
;
Graeme C.M. Black
;
William G. Newman
;
Jill Clayton-Smith
关键词:
X-linked mental retardation (
XLMR
)
;
Hypogonadic hypogonadism
;
Short stature
;
Late onset testicular failure
刊名:European Journal of Medical Genetics
出版年:2007
8.
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
作者:
Lucia Ballarati
a
;
l.ballarati@auxologico.it
;
Anna Cereda
b
;
Rossella Caselli
a
;
Silvia Maitz
b
;
Silvia Russo
a
;
Angelo Selicorni
b
;
Lidia Larizza
a
;
c
;
Daniela Giardino
a
关键词:
Xp22.2 deletion
;
Array-CGH
;
AP1S2
刊名:European Journal of Medical Genetics
出版年:2012
9.
XLMR
candidate mouse gene, Zcchc12 (Sizn1) is a novel marker of Cajal–Retzius cells
作者:
Ginam Cho
a
;
Youngshin Lim
b
;
Jeffrey A. Golden
a
;
goldenj@mail.med.upenn.edu
关键词:
Sizn1 (Zcchc12)
;
Cajal–
;
Retzius cell
;
BMP
;
Pallial–
;
subpallial boundary
;
Cortical hem
;
Septum
;
Reln
刊名:Gene Expression Patterns
出版年:2011
10.
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders
作者:
Stavroula Psoni
;
Christalena Sofocleous
;
Joanne Traeger-Synodinos
;
Sophia Kitsiou-Tzeli
;
Emmanuel Kanavakis
;
Helen Fryssira-Kanioura
;
efrysira@med.uoa.gr
关键词:
MECP2
;
Rett syndrome
;
Mental retardation
刊名:Brain and Development
出版年:2012
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