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Elsevier电子期刊(1619)
在“
Elsevier电子期刊
”中,
命中:
1,619
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,619
条
1.
Mutation spectrum of
NF1
gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
作者:
Francesco Calì
;
a
;
cali@oasi.en.it
;
Valeria Chiavetta
a
;
Giuseppa Ruggeri
a
;
Maria Piccione
b
;
Angelo Selicorni
c
;
d
;
Daniela Palazzo
b
;
Maria Bonsignore
e
;
Anna Cereda
f
;
Maurizio Elia
g
;
Pinella Failla
g
;
Maria Grazia Figura
g
;
Agata Fiumara
h
;
Silvia Maitz
c
;
Giuseppa Maria Luana Mandarà
;
i
;
Teresa Mattina
h
;
Alda Ragalmuto
a
;
Corrado Romano
g
;
Martino Ruggieri
h
;
Roberto Salluzzo
a
;
Antonino Saporoso
e
;
Carmelo Schepis
g
;
Giovanni Sorge
h
;
Maria Spanò
;
e
;
Gaetano Tortorella
e
;
Valentino Romano
j
关键词:
Neurofibromatosis type 1
;
Legius's syndrome
;
Next generation sequencing
;
Mosaicism
刊名:European Journal of Medical Genetics
出版年:2017
2.
Cell wall synthesis and central carbohydrate metabolism are interconnected by the S
NF1
/Mig1 pathway in Kluyveromyces lactis
作者:
Dorthe Rippert
a
;
Katja Backhaus
a
;
Rosaura Rodicio
b
;
Jü
;
rgen J. Heinisch
a
;
heinisch@biologie.uni-osnabrueck.de
关键词:
Milk yeast
;
Cell wall integrity
;
Carbohydrate signaling
;
Glycolysis
刊名:European Journal of Cell Biology
出版年:2017
3.
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data
作者:
Fernando M.A. Giuffrida
a
;
b
;
fernando.giuffrida@me.com
;
Regina S. Moises
b
;
Leticia S. Weinert
c
;
Luis E. Calliari
d
;
Thais Della Manna
e
;
Renata P. Dotto
b
;
Luciana F. Franco
b
;
Lilian A. Caetano
f
;
Milena G. Teles
f
;
Renata Andrade Lima
g
;
Cré
;
sio Alves
g
;
Sergio A. Dib
b
;
Sandra P. Silveiro
c
;
Magnus R. Dias-da-Silva
b
;
Andre F. Reis
b
;
afreis2005@gmail.com
;
on behalf of the Brazilian Monogenic Diabetes Study Group (BRASMOD)
1
关键词:
MODY
;
Diabetes mellitus
;
H
NF1
A
;
Glucokinase
;
Monogenic diabetes
刊名:Diabetes Research and Clinical Practice
出版年:2017
4.
Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care
作者:
Robert A. Avery
;
DO
;
MSCE
1
;
2
;
3
;
5
;
6
;
averyr@email.chop.edu
;
James A. Katowitz
;
MD
6
;
Michael J. Fisher
;
MD
7
;
Gena Heidary
;
MD
;
PhD
8
;
Eva Dombi
;
MD
9
;
Roger J. Packer
;
MD
1
;
2
;
4
;
5
;
Brigitte C. Widemann
;
MD
9
;
on behalf of the OPPN Working GroupKelly A. Hutcheson
;
MD
;
William P. Madigan
;
MD
;
Robert Listernick
;
MD
;
Grant T. Liu
;
MD
;
Jerry E. Berland
;
MD
;
Edmond J. FitzGibbon
;
MD
;
Bruce R. Korf
;
MD
;
PhD
关键词:
FDA
;
Food and Drug Administration
;
MEK
;
mitogen-activated protein kinase kinase
;
MRI
;
magnetic resonance imaging
;
NF1
;
neurofibromatosis type 1
;
OPPN
;
orbital-periorbital plexiform neurofibroma
;
PN
;
plexiform neurofibroma
;
TTP
;
time to progression
刊名:Ophthalmology
出版年:2017
5.
Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments in Neurofibromatosis 1 mutant mice
作者:
Joseph B. Weiss
a
;
Sydney J. Weber
b
;
Eileen Ruth S. Torres
b
;
Tessa Marzulla
b
;
Jacob Raber
b
;
c
;
raberj@ohsu.edu
关键词:
Alk
;
NF1
;
Hippocampus
;
Cognition
;
Neurofibromatosis
刊名:Behavioural Brain Research
出版年:2017
6.
Structural and calorimetric studies demonstrate that the hepatocyte nuclear factor 1β (H
NF1
β) transcription factor is imported into the nucleus via a monopartite NLS sequence
作者:
Mareike M. Wiedmann
a
;
b
;
Shintaro Aibara
c
;
David R. Spring
a
;
Murray Stewart
c
;
ms@mrc-lmb.cam.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
James D. Brenton
b
关键词:
CCC
;
ovarian clear cell carcinoma
;
H
NF1
β
;
hepatocyte nuclear factor 1β
;
H
NF1
βDBD
;
H
NF1
β DNA binding domain
;
NLS
;
nuclear localization signal
;
IBB
;
Importin-β-binding domain
;
mImportin-α
;
mouse Importin-α
;
xImportin-α
;
Xenopus Importin-α
;
GST
;
glutathione S-transferase
刊名:Journal of Structural Biology
出版年:2016
7.
Restoration of the serum level of SERPI
NF1
does not correct the bone phenotype in Serpi
nf1
null mice
作者:
Abbhirami Rajagopal
a
;
Erica P. Homan
a
;
1
;
Kyu sang Joeng
a
;
Masataka Suzuki
b
;
Terry Bertin
a
;
Racel Cela
a
;
Elda Munivez
a
;
Brian Dawson
a
;
Ming-Ming Jiang
a
;
Frank Gannon
c
;
Susan Crawford
d
;
Brendan H. Lee
a
;
blee@bcm.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
PEDF
;
Serpi
nF1
;
Gene transfer
;
Osteogenesis imperfecta
;
Helper-dependent adenovirus
刊名:Molecular Genetics and Metabolism
出版年:2016
8.
Unexpected finding of a whole H
NF1
B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations
作者:
Renata P. Dotto
a
;
1
;
Fernando M.A. Giuffrida
b
;
1
;
Luciana Franco
a
;
Andreia L.G. Mathez
a
;
Leticia S. Weinert
c
;
Sandra P. Silveiro
c
;
Joao R. Sa
d
;
Andre F. Reis
a
;
afreis2005@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Magnus R. Dias-da-Silva
a
关键词:
MODY
;
Diabetes mellitus
;
MLPA
;
H
NF1
B
;
Mutation
刊名:Diabetes Research and Clinical Practice
出版年:2016
9.
Inappropriate translation inhibition and P-body formation cause cold-sensitivity in tryptophan-auxotroph yeast mutants
作者:
Lidia Ballester-Tomá
;
s
a
;
Jose A. Prieto
a
;
Paula Alepuz
b
;
Asier Gonzá
;
lez
c
;
Elena Garre
a
;
1
;
Francisca Randez-Gil
a
;
randez@iata.csic.es
关键词:
Yeast
;
Low temperature
;
Polysomes
;
Gcn2 pathway
;
eIF2α
;
Hog1
;
S
nf1
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
出版年:2017
10.
De novo transcriptome analysis reveals insights into different mechanisms of growth and immunity in a Chinese soft-shelled turtle hybrid and the parental varieties
作者:
Haiqi Zhang
a
;
b
;
zmk407@126.com
;
Xiaojun Xu
b
;
24587980@qq.com
;
Zhongyang He
b
;
zjscxpz@126.com
;
Tianlun Zheng
b
;
tlzheng@126.com
;
Jianzhong Shao
a
;
shaojz@zju.edu.cn
关键词:
AGBL2
;
ATP/GTP binding protein-like 2
;
BMPR1A
;
Bone morphogenetic protein receptor
;
type 1A
;
CLEC3B
;
C-type lectin domain family 3
;
C1QT
NF1
;
C1q and tumor necrosis factor related protein1
;
DDAH1
;
Dimethylarginine dimethylaminohydrolase 1
;
DEGs
;
Differentially expressed genes
;
DHA
;
Docosahexaenoic acid
;
ECSIT
;
Evolutionary conserved signaling intermediate in Toll pathway
;
EPA
;
Eicosapentaenoic acid
;
GABRG2
;
Gamma-aminobutyric acid A receptor
;
GDA
;
Guanine deaminase
;
GH
;
Growth hormone
;
GHITM
;
Gro
刊名:Gene
出版年:2017
1
2
3
4
5
6
7
8
9
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