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Elsevier电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
15
条
1.
Role of
PAFAH1B1
in human spermatogenesis, fertilization and early embryonic development
作者:
Gui-Dong Yao
1
Author Vitae
;
Sen-Lin Shi
1
;
Wen-Yan Song
;
Hai-Xia Jin
;
Zhao-Feng Peng
;
Hong-Yi Yang
;
En-Yin Wang
;
Ying-Pu Sun
;
syp2008@vip.sina.com" class="auth_mail" title="E-mail the corresponding author
关键词:
early embryonic development
;
fertilization
;
PAFAH1B1
;
platelet-activating factor acetylhydrolase
;
spermatogenesis
刊名:Reproductive BioMedicine Online
出版年:2015
2.
17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report
作者:
Rohan K. Henry
a
;
rohan.henry@nationwidechildrens.org" class="auth_mail" title="E-mail the corresponding author
;
Caroline Astbury
b
;
c
;
Constantine A. Stratakis
d
;
Scott E. Hickey
e
关键词:
17p13.3 microduplications
;
CRK gene
;
Growth factors
;
Central precocious puberty
刊名:European Journal of Medical Genetics
出版年:2016
3.
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly
作者:
Keiko Shimojima
a
;
b
;
Akihisa Okumura
c
;
d
;
Masaharu Hayashi
e
;
Takayuki Kondo
f
;
g
;
Haruhisa Inoue
f
;
g
;
Toshiyuki Yamamoto
b
;
yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
Induced pluripotent stem (iPS) cell
;
Neuronal migration disorder
;
PAFAH1B1
(LIS1)
;
TUBA1A
;
Coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2)
刊名:Genomics
出版年:2015
4.
Overexpression of
PAFAH1B1
is associated with tumor metastasis and poor survival in non-small cell lung cancer
作者:
Fang-Yi Lo
;
Hsiung-Ting Chen
;
Hung-Chi Cheng
;
Han-Shui Hsu
;
Yi-Ching Wang
关键词:
PAFAH1B1
;
Lung cancer
;
Metastasis
;
Poor survival
;
Oncogene
刊名:Lung Cancer
出版年:2012
5.
Reelin, neuronal polarity and process orientation of cortical neurons
作者:
E. Fö
;
rster
;
efoerste@uke.uni-hamburg.de" class="auth_mail
关键词:
Apoer2
;
apolipoprotein E receptor 2
;
BDNF
;
brain-derived neurotrophic factor
;
cp
;
cortical plate
;
Dab1
;
disabled-1
;
EBs
;
end-binding proteins
;
ECM
;
extracellular matrix
;
GEF
;
Guanine nucleotide exchange factor
;
imz
;
intermediate zone
;
IPCs
;
intermediate progenitor cells
;
LIMK1
;
LIM kinase-1
;
mz
;
marginal zone
;
NICD
;
notch1 intracellular cleaved domain
;
Nudel
;
nuclear distribution protein
;
nudE-like
;
PAFAH1B1
;
platelet-activating factor acetylhydrolase 1B subunit alpha
;
PAR
;
partitioning defectiv
刊名:Neuroscience
出版年:6 June 2014
6.
A new 17p13.3 microduplication including the
PAFAH1B1
and YWHAE genes resulting from an unbalanced X;17 translocation
作者:
Capucine Hyon
a
;
Sandrine Marlin
b
;
Sandra Chantot-Bastaraud
a
;
Philippe Mabboux
a
;
Marie-Paule Beaujard
a
;
Essam Al Ageeli
a
;
Marie-Paule Vazquez
c
;
Arnaud Picard
c
;
Jean-Pierre Siffroi
a
;
Marie-France Portnoï
;
a
;
marie-france.portnoi@trs.aphp.fr"" rel=""nofollow
关键词:
17p13.3 Microduplication
;
Translocation X-autosome
;
PAFAH1B1
-YWHAE genes
刊名:European Journal of Medical Genetics
出版年:2011
7.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to
PAFAH1B1
: Four additional patients
作者:
Manuel Schiff
;
André
;
e Delahaye
;
Joris Andrieux
;
Damien Sanlaville
;
Catherine Vincent-Delorme
;
Azzedine Aboura
;
Brigitte Benzacken
;
Sonia Bouquillon
;
Monique Elmaleh-Berges
;
Audrey Labalme
;
S
;
rine
关键词:
17p 13.3 microdeletion
;
YWHAE
;
Mental retardation
;
Coloboma
;
Chiari type 1 malformation
刊名:European Journal of Medical Genetics
出版年:2010
8.
Pafah1b2 mutations suppress the development of hydrocephalus in compound
Pafah1b1
; Reln and Pafah1b1; Dab1 mutant mice
作者:
Amir H. Assadi
;
Guangcheng Zhang
;
Robert McNeil
;
Gary D. Clark
;
Gabriella D’
;
Arcangelo
关键词:
Reeler
;
Neuronal migration
;
Disabled-1
;
Lis1
;
Platelet activating factor acetylhydrolase
;
Neocortex
刊名:Neuroscience Letters
出版年:2008
9.
A newborn with a 790?kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
作者:
Alvin C.C. Ho
a
;
Anthony P.Y. Liu
a
;
K.S. Lun
a
;
W.F. Tang
b
;
Kelvin Y.K. Chan
b
;
c
;
Elizabeth Y.T. Lau
b
;
Mary H.Y. Tang
c
;
T.Y. Tan
a
;
d
;
e
;
Brian H.Y. Chung
a
;
c
;
bhychung@hku.hk
关键词:
Chromosome 17p13.3
;
Microduplication
;
Chromosome aberration
;
Array comparative genomic hybridization
;
Dysmorphism
;
Microcephaly
;
Aortic stenosis
刊名:European Journal of Medical Genetics
出版年:2012
10.
Pigmentary Mosaicism, Subcortical Band Heterotopia, and Brain Cystic Lesions
作者:
Martino Ruggieri
;
Mario Roggini
;
Alberto Spalice
;
Maria Addis
;
Paola Iannetti
刊名:Pediatric Neurology
出版年:2009
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