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Springer电子图书(2)
SpringerLink电子期刊(12)
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:0.0189909 秒
在所有数据库中总计命中:
69
条
1.
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-
Lowry
syndrome
作者:
Jonathan D.J. Labonne
a
;
b
;
Min Ji Chung
a
;
c
;
Julie R. Jones
d
;
Priya Anand
e
;
Wolfgang Wenzel
e
;
Daniela Iacoboni
f
;
Lawrence C. Layman
a
;
b
;
g
;
Hyung-Goo Kim
a
;
b
;
hkim@gru.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
CLS
;
Coffin&ndash
;
Lowry
syndrome
;
RPS6KA3
;
Ribosomal Protein S6 Kinase Polypeptide 3
;
RSK2
;
ribosomal S6 kinase 2
;
RT-PCR
;
reverse transcription polymerase chain reaction
;
cDNA
;
complementary DNA
;
ATP
;
adenosine triphosphate
;
ERK
;
extracellular regulated kinase
;
ATF4
;
activating transcription factor 4
;
snRNPs
;
small nuclear ribonucleoproteins
;
CCA
;
congenital contractural arachnodactyly
;
MNK
;
Menkes disease
;
PKLR
;
pyruvate kinase
;
liver and red blood cell
;
BRCA1
;
breast cancer gene 1
;
DGDP
;
deve
刊名:Gene
出版年:2016
2.
Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-
Lowry
syndrome
作者:
Shiho Deguchi
;
MD (Assistant Professor)
;
Nobuyasu Komasawa
;
MD
;
PhD
;
ane078@poh.osaka-med.ac.jp" class="auth_mail" title="E-mail the corresponding author
(Assistant Professor)
;
Kenji Morimoto
;
MD (Assistant Professor)
;
Toshiaki Minami
;
MD
;
PhD (Professor
;
Chief)
关键词:
Pentax-AWS Airwayscope
;
Bronchofiberscope
;
Coffin-
Lowry
syndrome
刊名:Journal of Clinical Anesthesia
出版年:2016
3.
Beyond the Aortic Root: Staged Open and Endovascular Repair of Arch and Descending Aorta in Patients With Connective Tissue Disorders
作者:
Eric E. Roselli
;
MD
a
;
b
;
&lowast
;
;
roselle@ccf.org" class="auth_mail" title="E-mail the corresponding author
;
Jay J. Idrees
;
MD
a
;
b
;
&lowast
;
;
Ashley M.
Lowry
;
MS
d
;
Khalil Masabni
;
MD
b
;
Edward G. Soltesz
;
MD
;
MPH
a
;
b
;
Douglas R. Johnston
;
MD
a
;
b
;
Vidyasagar Kalahasti
;
MD
a
;
c
;
Eugene H. Blackstone
;
MD
b
;
d
;
Joseph F. Sabik III
;
MD
a
;
b
;
Bruce W. Lytle
;
MD
a
;
b
;
Lars G. Svensson
;
MD
;
PhD
a
;
b
刊名:The Annals of Thoracic Surgery
出版年:2016
4.
Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-
Lowry
syndrome
作者:
Anne Schneider
关键词:
Coffin&ndash
;
Lowry
syndrome
;
X-linked mental retardation
;
RPS6KA3 gene
;
RSK2 protein
;
Deep intronic mutation
刊名:European Journal of Medical Genetics
出版年:2013
5.
Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-
Lowry
syndrome
作者:
Elise Morice
;
S¨¦verine Farley
;
Roseline Poirier
;
Glenn Dallerac
;
Carine Chagneau
;
Solange Pannetier
;
Andr¨¦ Hanauer
;
Sabrina Davis
;
Cyrille Vaillend
;
Serge Laroche
关键词:
AMPAr
;
¦Á-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor
;
CLS
;
Coffin&ndash
;
Lowry
syndrome
;
CREB
;
cAMP-response element binding protein
;
CS
;
Conditioned stimulus
;
EM
;
Electron microscopy
;
EPSC
;
Excitatory postsynaptic currents
;
ERK
;
Extracell
刊名:Neurobiology of Disease
出版年:2013
6.
Stimulus-induced drop episodes in Coffin-
Lowry
syndrome
作者:
Jin S. Hahn
a
;
jhahn@stanford.edu
;
André
;
Hanauer
b
;
Andre.HANAUER@igbmc.fr
;
andre.@igbmc.fr
关键词:
Coffin&ndash
;
Lowry
syndrome
;
Xp22
;
Rps6ka3 Gene
;
RSK2
;
Stimulus-induced drop episodes (SIDEs)
刊名:European Journal of Medical Genetics
出版年:2012
7.
A Community Cross-Sectional Survey of Medical Problems in 440 Children with Down
Syndrome
in New York State
作者:
Nancy J. Roizen
;
MD
1
;
Caroline I. Magyar
;
PhD
2
;
Emily S. Kuschner
;
PhD
3
;
Steven B. Sulkes
;
MD
2
;
Charlotte Druschel
;
MD
;
MPH
4
;
5
;
Edwin van Wijngaarden
;
PhD
6
;
Lisa Rodgers
;
MA
2
;
Alison Diehl
;
MS
2
;
Richard
Lowry
;
PhD
7
;
Susan L. Hyman
;
MD
2
关键词:
AAP
;
American Academy of Pediatrics
;
CHD
;
Congenital heart disease
;
NHIS
;
National Health Interview Survey
;
NYCMR
;
New York Congenital Malformations Registry
;
NYS
;
New York State
刊名:The Journal of Pediatrics
出版年:April, 2014
8.
Four novel RSK2 mutations in females with Coffin–
Lowry
syndrome
作者:
Dorota Jurkiewicz
;
Aleks
;
ra Jezela-Stanek
;
Elż
;
bieta Ciara
;
Dorota Piekutowska-Abramczuk
;
Monika Kugaudo
;
Maria Gajdulewicz
;
Krystyna Chrzanowska
;
Ewa Popowska
;
Mał
;
gorzata Krajewska-Walasek
关键词:
Coffin–
;
Lowry
syndrome
;
CLS females
;
RSK2
mutations
;
MLPA
;
X-chromosome inactivation
刊名:European Journal of Medical Genetics
出版年:2010
9.
Coffin–
Lowry
syndrome
: A role for RSK2 in mammalian neurogenesis
作者:
Ch
;
rasagar B. Dugani
;
Annie Paquin
;
David R. Kaplan
;
Freda D. Miller
关键词:
Coffin–
;
Lowry
Syndrome
;
Rsk2
;
Cortical development
;
Neural stem cell
;
In utero
electroporation
;
Proliferation
;
Neurogenesis
;
Gliogenesis
;
Developmental disorder
;
Mental retardation
刊名:Developmental Biology
出版年:2010
10.
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
作者:
Mark J. Millan
;
mark.millan@fr.netgrs.com
关键词:
Epigenopathy
;
Histone
;
Chromatin
;
Methylation
;
Acetylation
;
MiRNA
;
SnoRNA
;
Noncoding RNA
;
Autism
;
Schizophrenia
刊名:Neuropharmacology
出版年:2013
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