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CNKI学位论文(18)
知网期刊论文(27)
在“
Elsevier电子期刊
”中,
命中:
13
条,耗时:小于0.01 秒
在所有数据库中总计命中:
45
条
1.
An acetylcholine alpha7 positive allosteric modulator rescues a schizophrenia-associated brain endophenotype in the
15q13
.3
microdeletion
, encompassing CHRNA7
作者:
Natalia Gass
a
;
natalia.gass@zi-mannheim.de" class="auth_mail" title="E-mail the corresponding author
;
Wolfgang Weber-Fahr
a
;
Alexander Sartorius
a
;
b
;
Robert Becker
a
;
Michael Didriksen
c
;
Tine Bryan Stensbø
;
l
c
;
Jesper Frank Bastlund
c
;
Andreas Meyer-Lindenberg
b
;
Adam J. Schwarz
d
;
e
;
f
关键词:
15q13
.3
Microdeletion
;
Mouse model
;
Schizophrenia
;
Resting-state fMRI
刊名:European Neuropsychopharmacology
出版年:2016
2.
The
15q13
.3 deletion syndrome: Deficient 伪
7
-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders
作者:
Stephen I. Deutsch
;
deutscsi@evms.edu" class="auth_mail" title="E-mail the corresponding author
;
Jessica A. Burket
;
Andrew D. Benson
;
Maria R. Urbano
关键词:
15q13
.3 deletion
;
Autism spectrum disorder
;
Copy number variation
;
Positive allosteric modulator
;
Schizophrenia
;
伪7-Containing nicotinic acetylcholine receptor
刊名:Progress in Neuropsychopharmacology & Biological Psychiatry
出版年:2016
3.
Iterative phenotyping of 15q11.2,
15q13
.3 and 16p13.11
microdeletion
carriers in pediatric epilepsies
作者:
Johanna A. J盲hn
;
Sarah von Spiczak
;
Hiltrud Muhle
;
Tanja Obermeier
;
Andre Franke
;
Heather C. Mefford
;
Ulrich Stephani
;
Ingo Helbig
关键词:
Copy number variation
;
15q11.2
;
15q13
.3
;
16p13.11
microdeletion
s
刊名:Epilepsy Research
出版年:January, 2014
4.
A Mouse Model that Recapitulates Cardinal Features of the
15q13
.3
Microdeletion
Syndrome Including Schizophrenia- and Epilepsy-Related Alterations
作者:
Kim Fejgin
a
;
Jacob Nielsen
a
;
Michelle R. Birknow
a
;
Jesper F. Bastlund
a
;
Vibeke Nielsen
a
;
Jes B. Lauridsen
a
;
Hreinn Stefansson
b
;
Stacy Steinberg
b
;
Helge B.D. Sorensen
c
;
Troels E. Mortensen
c
;
Peter H. Larsen
a
;
Ib V. Klewe
a
;
Sø
;
ren V. Rasmussen
a
;
Kari Stefansson
b
;
Thomas M. Werge
d
;
Pekka Kallunki
a
;
Kenneth V. Christensen
a
;
Michael Didriksen
a
;
MDI@lundbeck.com" class="auth_mail
关键词:
Absence seizures
;
animal model
;
Chrna7
;
copy number variation
;
gamma oscillations
;
PTZ
刊名:Biological Psychiatry
出版年:15 July 2014
5.
15q13
.3
microdeletion
s in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria
作者:
Andrey Kirov
a
;
b
;
1
;
andrey_kirov@mail.bg
;
Petia Dimova
c
;
1
;
psdimova@gmail.com
;
Albena Todorova
a
;
b
;
2
;
todorova_albena@abv.bg
;
Heather Mefford
d
;
3
;
hmefford@u.washington.edu
;
Tihomir Todorov
a
;
b
;
Gergana Saraylieva
c
;
Veneta Bojinova
c
;
Vanyo Mitev
a
;
Ingo Helbig
e
;
4
;
ingo.helbig@uk-sh.de
关键词:
Pediatric epilepsy
;
IGE
;
Epilepsy syndrome
;
CNV
;
15q13
.3
;
Deletion
刊名:Epilepsy Research
出版年:2013
6.
The unexpected role of copy number variations in juvenile myoclonic epilepsy
作者:
Ingo Helbig
a
;
i.helbig@pedneuro.uni-kiel.de
;
Corinna Hartmann
a
;
Heather C. Mefford
b
关键词:
Epilepsy
;
Genetics
;
JME
;
Copy number variations
;
15q13
.3
;
16p13.11
;
Microdeletion
刊名:Epilepsy & Behavior
出版年:2013
7.
Homozygous deletion of chromosome
15q13
.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
作者:
Malte Spielmann
a
;
b
;
Gabriele Reichelt
c
;
Christoph Hertzberg
c
;
Marc Trimborn
a
;
Stefan Mundlos
a
;
b
;
Denise Horn
a
;
Eva Klopocki
a
;
b
;
eva.klopocki@charite.de"" rel=""nofollow
关键词:
Homozygous deletion
15q13
.3
;
Mental retardation
;
Array CGH
;
Macrocytosis
;
Retinal dysfunction
;
KLF13
;
TRPM1
刊名:European Journal of Medical Genetics
出版年:2011
8.
The quest for Juvenile Myoclonic Epilepsy genes
作者:
Antonio V. Delgado-Escueta
a
;
b
;
c
;
escueta@ucla.edu
;
Bobby P.C. Koeleman
e
;
Julia N. Bailey
a
;
b
;
d
;
Marco T. Medina
b
;
f
;
Reyna M. Duró
;
n
a
;
b
;
f
关键词:
Linkage
;
Genome-wide associations
;
Juvenile myoclonic epilepsy genes
刊名:Epilepsy & Behavior
出版年:2013
9.
The Evolving Picture of
Microdeletion
/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
作者:
Kristen L. Deak
;
PhD
;
Sarah R. Horn
;
PhD
;
Catherine W. Rehder
;
PhD
;
catherine.rehder@duke.edu
关键词:
Microdeletion
;
Microduplication
;
Syndrome
;
Microarray
;
1q21
;
15q13
;
15q24
;
16p13.1
;
16p11.2
;
17q21.3
刊名:Clinics in Laboratory Medicine
出版年:2011
10.
A de novo
15q13
.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
作者:
Tuva Barø
y ;
Doriana Misceo
;
Ø
;
ivind Braaten
;
Johan R. Helle
;
Madeleine Fannemel
;
Petter Strø
;
mme
;
Eirik Frengen
关键词:
Angelman syndrome like phenotype
;
Mental retardation
;
15q13
deletion
;
aCGH
刊名:European Journal of Medical Genetics
出版年:2010
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