设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(51)
Elsevier电子期刊(75)
ACS电子期刊(6)
在“
Elsevier电子期刊
”中,
命中:
75
条,耗时:0.0590047 秒
在所有数据库中总计命中:
133
条
1.
Stargardt
disease
-associated mutation spectrum of a Russian Federation cohort
作者:
Inna V. Zolnikova
a
;
Vladimir V. Strelnikov
b
;
Natalia A. Skvortsova
c
;
Alexander S. Tanas
b
;
Debmalya Barh
d
;
e
;
dr.barh@gmail.com
;
Elena V. Rogatina
a
;
Irina V. Egorova
a
;
Darja V. Levina
a
;
Olga N. Demenkova
a
;
Egor G. Prikaziuk
f
;
Marianna E. Ivanova
g
关键词:
Gene mutation
;
Genotype-phenotype correlation
;
Next-generation sequencing
;
Retinopathy
;
Retinal dystrophies
;
Stargardt
disease
刊名:European Journal of Medical Genetics
出版年:2017
2.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in
Stargardt
Disease
作者:
Riccardo Sangermano
;
MSc
1
;
2
;
Nathalie M. Bax
;
MD
3
;
Miriam Bauwens
;
MSc
4
;
L. Ingeborgh van den Born
;
MD
;
PhD
5
;
Elfride De Baere
;
MD
;
PhD
4
;
Alejandro Garanto
;
PhD
1
;
2
;
Rob W.J. Collin
;
PhD
1
;
2
;
Angelique S.A. Goercharn-Ramlal
;
PhD
1
;
Anke H.A. den Engelsman-van Dijk
;
BSc
1
;
Klaus Rohrschneider
;
MD
;
PhD
6
;
Carel B. Hoyng
;
MD
;
PhD
3
;
Frans P.M. Cremers
;
PhD
1
;
2
;
&lowast
;
;
Frans.Cremers@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
;
Silvia Albert
;
PhD
1
;
2
;
&lowast
;
;
Silvia.Albert@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
关键词:
BCVA
;
best-corrected visual acuity
;
CRD
;
cone&ndash
;
rod dystrophy
;
DAPI
;
4&prime
;
6-diamidino-2-phenylindole
;
DMEM/F12
;
Dulbecco's Modified Eagle Medium
;
Nutrient Mixture F-12
;
dNTPs
;
deoxynucleotide triphosphates
;
ERG
;
electroretinography
;
iPSC
;
induced pluripotent stem cell
;
PCR
;
polymerase chain reaction
;
PPC
;
photoreceptor progenitor cell
;
RT-PCR
;
reverse-transcription polymerase chain reaction
;
SNP
;
single nucleotide polymorphism
;
STGD1
;
autosomal recessive
Stargardt
disease
刊名:Ophthalmology
出版年:2016
3.
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of
Stargardt
Disease
Study (ProgStar Report No. 2)
作者:
Xiangrong Kong
;
PhD
1
;
2
;
Rupert W. Strauss
;
MD
1
;
3
;
4
;
Michel Michaelides
;
MD
3
;
Artur V. Cideciyan
;
PhD
5
;
José
;
-Alain Sahel
;
MD
6
;
Beatriz Muñ
;
oz
;
MS
1
;
Sheila West
;
PhD
1
;
Hendrik P.N. Scholl
;
MD
;
MA
1
;
hscholl1@jhmi.edu" class="auth_mail" title="E-mail the corresponding author
;
for the ProgStar Study Group
&lowast
;
;
Hendrik P.N. Scholl
;
Rupert W. Strauss
;
Yulia Wolfson
;
Millena Bittencourt
;
Syed Mahmood Shah
;
Mohammed Ahmed
;
Etienne Schonbach
;
Kaoru Fujinami
;
Elias Traboulsi
;
Justis Ehlers
;
Meghan Marino
;
Susan Crowe
;
Rachael Briggs
;
Angela Borer
;
Anne Pinter
;
Tami Fecko
;
Nikki Brugnoni
;
Janet S. Sunness
;
Carol Applegate
;
Leslie Russell
;
Michel Michaelides
;
Anthony Moore
;
Andrew Webster
;
Sophie Connor
;
Victoria McCudden
;
Maria Pefkianaki
;
Jonathan Aboshiha
;
Gerald Liew
;
Graham Holder
;
Anthony Robson
;
Alexa King
;
Daniela Ivanova Cajas Narvaez
;
Katy Barnard
;
Catherine Grigg
;
Hannah Dunbar
;
Yetunde Obadeyi
;
Karine Girard-Claudon
;
Hilary Swann
;
Avani Rughani
;
Charles Amoah
;
Dominic Carrington
;
Kanom Bibi
;
Emerson Ting Co
;
Andrew Carter
;
Anne Georgiou
;
Selma Lewis
;
Saddaf Shaheen
;
Harpreet Shinmar
;
Linda Burton
;
Paul Bernstein
;
Kimberley Wegner
;
Briana Lauren Sawyer
;
Bonnie Carlstrom
;
Kellian Farnsworth
;
Cyrie Fry
;
Melissa Chandler
;
Glen Jenkins
;
Donnel Creel
;
David Birch
;
Yi-Zhong Wang
;
Luis Rodriguez
;
Kirsten Locke
;
Martin Klein
;
Paulina Mejia
;
Artur V. Cideciyan
;
Samuel G. Jacobson
;
Sharon B. Schwartz
;
Rodrigo Matsui
;
Michaela Gruzensky
;
Alejandro J. Roman
;
Eberhart Zrenner
;
Fadi Nasser
;
Gesa Astrid Hahn
;
Barbara Wilhelm
;
Tobias Peters
;
Benjamin Beier
;
Tilman Koenig
;
Susanne Kramer
;
José
;
-Alain Sahel
;
Saddek Mohand-Said
;
Isabelle Audo
;
Caroline Laurent-Coriat
;
Ieva Sliesoraityte
;
Christina Zeitz
;
Fiona Boyard
;
Minh Ha Tran
;
Mathias Chapon
;
Cé
;
line Chaumette
;
Juliette Amaudruz
;
Victoria Ganem
;
Serge Sancho
;
Aurore Girmens
;
Hendrik P.N. Scholl
;
Rupert W. Strauss
;
Yulia Wolfson
;
Syed Mahmood Shah
;
Mohammed Ahmed
;
Etienne Schonbach
;
Robert Wojciechowski
;
Shazia Khan
;
David G. Emmert
;
Dennis Cain
;
Mark Herring
;
Jennifer Bassinger
;
Lisa Liberto
;
Sheila West
;
Ann-Margret Ervin
;
Beatriz Munoz
;
Xiangrong Kong
;
Kurt Dreger
;
Jennifer Jones
;
Srinivas Sadda
;
Anamika Jha
;
Alex Ho
;
Brendan Kramer
;
Amirhossein Hariri
;
Gloria Rebecca Blanquel
;
Ngoc Lam
;
Sean Pitetta
;
Yue Shi
;
Rita Tawdros
;
Christine Petrossian
;
Dennis Jenkins
;
Muneeswar Gupta
;
Yong Dong Zhou
;
Katherine Aguilar
;
Cynthia Chan
;
Lisa Santos
;
Brian Seo
;
Christopher Sison
;
Silvia Perez
;
Stephanie Chao
;
Kelly Miyasato
;
Julia Higgins
;
Zoila Luna
;
Anita Menchaca
;
Norma Gonzalez
;
Vicky Robledo
;
Karen Carig
;
Kirstie Baker
;
David Ellenbogen
;
James Russell
;
Daniel Bluemel
;
Alex Moreno
;
Royal Pham
;
Theo Sanford
;
Daisy Linares
;
Mei Tran
关键词:
BPC VA
;
best or presenting VA with correction
;
CRF
;
clinical report form
;
GEE
;
generalized estimating equation
;
IQR
;
interquartile range
;
LMM
;
linear mixed effects model
;
logMAR
;
logarithm of the minimum angle of resolution
;
STGD1
;
Stargardt
macular dystrophy 1
;
VA
;
visual acuity
;
VI
;
visual impairment
刊名:Ophthalmology
出版年:2016
4.
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal
disease
s
作者:
Maria Tsipi
a
;
mtsipi@med.uoa.gr" class="auth_mail" title="E-mail the corresponding author
;
Maria Tzetis
a
;
Konstantina Kosma
a
;
Marilita Moschos
b
;
Maria Braoudaki
a
;
c
;
Myrto Poulou
a
;
Emmanuel Kanavakis
a
;
c
;
Sofia Kitsiou-Tzeli
a
关键词:
ABCA4 mutations
;
autosomal recessive cone-rod dystrophy
;
autosomal recessive retinitis pigmentosa
;
Stargardt
's
disease
刊名:Meta Gene
出版年:2016
5.
The role of central vision in posture: Postural sway adaptations in
Stargardt
patients
作者:
Valentina Agostini
a
;
valentina.agostini@polito.it" class="auth_mail" title="E-mail the corresponding author
;
Agnese Sbrollini
a
;
Chanda Cavallini
b
;
Alessandra Busso
b
;
Giulia Pignata
b
;
Marco Knaflitz
a
关键词:
Posture
;
Stargardt
;
Central vision
;
Postural sway
;
Visual impairment
刊名:Gait & Posture
出版年:2016
6.
Dark Atrophy: An Optical Coherence Tomography Angiography Study
作者:
Marco Pellegrini
;
MD
;
Alessandra Acquistapace
;
MD
;
Marta Oldani
;
MD
;
Matteo Giuseppe Cereda
;
MD
;
Andrea Giani
;
MD
;
Mariano Cozzi
;
BS
;
Giovanni Staurenghi
;
MD
;
FARVO
;
giovanni.staurenghi@unimi.it" class="auth_mail" title="E-mail the corresponding author
关键词:
AMD
;
age-related macular degeneration
;
BCVA
;
best-corrected visual acuity
;
EDI-OCT
;
enhanced-depth imaging optical coherence tomography
;
FA
;
fluorescein angiography
;
FAF
;
fundus autofluorescence
;
ICGA
;
indocyanine green angiography
;
OCTA
;
optical coherence tomography angiography
;
RPE
;
retinal pigment epithelium
;
SSADA
;
split-spectrum amplitude decorrelation angiography
;
STGD
;
Stargardt
disease
刊名:Ophthalmology
出版年:2016
7.
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe
作者:
Aneta Ścieżyńska
a
;
Dominika Oziębło
b
;
Anna M. Ambroziak
c
;
d
;
Magdalena Korwin
c
;
Kamil Szulborski
c
;
Maciej Krawczyński
e
;
f
;
Piotr Stawiński
b
;
Jerzy Szaflik
c
;
Jacek P. Szaflik
c
;
Rafał Płoski
g
;
rploski@wp.pl" class="auth_mail" title="E-mail the corresponding author
;
Monika Ołdak
a
;
b
;
m.oldak@ifps.org.pl" class="auth_mail" title="E-mail the corresponding author
关键词:
Stargardt
disease
;
Cone-rod dystrophy
;
ABCA4
;
Next-generation sequencing
;
Complex allele
;
Mutation
刊名:Experimental Eye Research
出版年:2016
8.
Evaluation of myeloperoxidase as a targeted enzymatic approach for the elimination of retinal A2E in
Stargardt
disease
作者:
Gouri Yogalingam
;
Amanda R. Lee
;
Donnie Mackenzie
;
Travis J. Maures
;
Agnes Rafalko
;
Heather Prill
;
Terri Christianson
;
Sean M. Bell
;
Jonathan H. LeBowitz
刊名:Molecular Genetics and Metabolism
出版年:2016
9.
Residual visual function in a man with a large subfoveal outer retinal tubulation in late-onset
Stargardt
disease
作者:
P. Frascio
a
;
b
;
V. Capuano
a
;
E.H. Souied
a
;
G. Querques
a
;
giuseppe.querques@hotmail.it" class="auth_mail" title="E-mail the corresponding author
刊名:Journal Français d'Ophtalmologie
出版年:2016
10.
The Natural History of the Progression of Atrophy Secondary to
Stargardt
Disease
(ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1
刊名:Ophthalmology
出版年:2016
1
2
3
4
5
6
7
8
按检索点细分(75)
题名(38)
关键词(12)
文摘(64)
按出版年细分(75)
2027年及以后(2)
2017年(1)
2016年(9)
2015年(2)
2013年(6)
2012年(4)
2011年(1)
2010年(9)
2009年(3)
2008年(3)
2007年(6)
2006年(1)
2005年(3)
2004年(1)
2003年(1)
2002年(1)
2001年(3)
2000年(3)
2000年及以前(16)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.