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CNKI学位论文(5)
知网期刊论文(1)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
作者:
Gavin Arno
1
;
2
;
Keren
J
. Carss
3
;
4
;
Sarah Hull
1
;
2
;
Ceniz Zihni
1
;
Anthony G. Robson
1
;
2
;
Alessia Fiorentino
1
;
UK Inherited Retinal Disease Consortium Graeme Black
;
Georgina Hall
;
Stuart Ingram
;
Rachel Gillespie
;
Forbes Manson
;
Panagiotis Sergouniotis
;
Chris Inglehearn
;
Carmel Toomes
;
Manir Ali
;
Martin McKibbin
;
J
ames Poulter
;
Kamron Khan
;
Emma Lord
;
Andrea Nemeth
;
Susan Downes
;
Stephanie Halford
;
J
ing Yu
;
Stefano Lise
;
Gavin Arno
;
Alessia Fiorentino
;
Nikos Ponitkos
;
Vincent Plagnol
;
Michel Michaelides
;
Alison
J
.
Hardcastle
;
Michael E. Cheetham
;
Andrew R. Webster
;
Veronica van Heyningen
关键词:
retinitis pigmentosa
;
inherited retinal dystrophy
;
retinal degeneration
;
ARHGEF18
;
p114RhoGEF
;
apicobasal polarity
刊名:The American
J
ournal of Human Genetics
出版年:2017
2.
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
作者:
Alice?E. Davidson
;
Nele Schwarz
;
Lina Zelinger
;
Gabriele Stern-Schneider
;
Amelia Shoemark
;
Ben
j
amin Spitzbarth
;
Menachem Gross
;
Uri Laxer
;
J
acob Sosna
;
Panagiotis?I. Sergouniotis
;
Naushin?H. Waseem
;
Robert Wilson
;
Richard?A. Kahn
;
Vincent Plagnol
;
Uwe Wolfrum
;
Eyal Banin
;
Alison
?
J
.
Hardcastle
;
Michael?E. Cheetham
;
Dror Sharon
;
Andrew?R. Webster
;
et al.
刊名:The American
J
ournal of Human Genetics
出版年:2013
3.
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins
作者:
Nele Schwarz
;
Alison
J
.
Hardcastle
;
Michael E. Cheetham
;
michael.cheetham@ucl.ac.uk
关键词:
Arl3
;
RP2
;
Transducin
;
Traffic
;
Prenylation
;
Acylation
;
Rab
;
Retinitis pigmentosa
;
Photoreceptor
;
Cilia
刊名:Vision Research
出版年:2012
4.
X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development
作者:
Tom
;
R. Webb
1
;
Mar Matarin
2
;
J
essica
;
C. Gardner
1
;
Dan Kelberman
3
;
Hala Hassan
1
;
4
;
Wei Ang
5
;
Michel Michaelides
1
;
4
;
J
onathan
;
B. Ruddle
6
;
Craig
;
E. Pennell
5
;
Seyhan Yazar
7
;
Chiea
;
C. Khor
8
;
9
;
Tin Aung
8
;
Mahinda Yogara
j
ah
2
;
Anthony
;
G. Robson
1
;
4
;
Graham
;
E. Holder
1
;
4
;
Michael
;
E. Cheetham
1
;
Elias
;
I. Traboulsi
10
;
Anthony
;
T. Moore
1
;
4
;
J
ane
;
C. Sowden
3
;
San
j
ay
;
M. Sisodiya
2
;
David
;
A. Mackey
7
;
Stephen
;
J
. Tuft
1
;
4
;
Alison
;
J
.
Hardcastle
1
;
a.
hardcastle
@ucl.ac.uk
刊名:The American
J
ournal of Human Genetics
出版年:2012
5.
Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis
作者:
Michel Michaelides
;
Alison
J
.
Hardcastle
;
David M. Hunt and Anthony T. Moore
刊名:Survey of Ophthalmology
出版年:2006
6.
Focus on Molecules: X-linked Retinitis Pigmentosa 2 protein, RP2
作者:
R.
J
ane Evans
;
Alison
J
.
Hardcastle
and Michael E. Cheetham
刊名:Experimental Eye Research
出版年:2006
7.
Focus on Molecules: Nyctalopin
作者:
Subathra Poopalasundaram
;
Lynda Erskine
;
Michael E. Cheetham and
Alison
J
.
Hardcastle
刊名:Experimental Eye Research
出版年:2005
8.
Unfolding retinal dystrophies: a role for molecular chaperones?
作者:
Chapple
;
J
. Paul
;
Grayson
;
Celene
;
Hardcastle
;
Alison
J
.
;
Saliba
;
Richard S.
;
van der Spuy
;
J
acqueline
;
et. al.
关键词:
retina
;
RP
;
protein folding
;
blind
;
chaperones
;
retinitis pigmentosa
;
blindness
;
Genetics
;
Cell biology
;
Molecular Medicine
;
Structural Biology
刊名:Trends in Molecular Medicine
出版年:2001
9.
Mutations in the RP2
作者:
Alison
J
.
Hardcastle
;
Dawn L. Thiselton
;
Lionel Van Maldergem
;
Bratin K. Saha
;
Marcelle
J
ay
;
Catherine Plant
;
Rachel Taylor
;
Alan C. Bird
;
Shomi Bhattacharya
刊名:The American
J
ournal of Human Genetics
出版年:1999
10.
cDNA Sequence and Gene Locus of the Human Retinal Phosphoinositide-Specific Phospholipase-Cβ4 (PLCB4)
作者:
Alvarez
;
Richard A.
;
Ghalayini
;
Abboud
J
.
;
Xu
;
Ping
;
Hardcastle
;
Alison
;
Bhattacharya
;
Shomi
;
et. al.
刊名:Genomics
出版年:1995
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