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12 research outputs found
Gingival fibromatosis: clinical, molecular and therapeutic issues
Author
A Abdul Jalil
A Dongari-Bagtzoglou
+190 more
A Igarashi
A Kantarci
A Kantarci
A Kantarci
A Kelekis-Cholakis
A Mahajan
A Nofal
AF Hefti
AK Shetty
AK Tavargeri
AK Tripathi
AS Jadhav
B Pappachan
B Perbal
BC Magnusson
BF Brasileiro
BL Pihlstrom
BS Oemar
BV Reddy
C Millet
C Stewart
C Zimmermann
CJ Witkop Jr
CL McIntosh
CR Andrade de
CS Miller
D Liaw
DA Tipton
DA Tipton
DS Feitosa
E Bondon-Guitton
E Jané-Salas
F Kortum
FS Rasheed
G Bolzani
G Elyamany
G Gontiya
G Gupta
G Harikishan
G Jaureguiberry
G Jones
G Keser
GH Breen
GM Blumenthal
GM DeStefano
GM Horning
GT Shin
GY El-Kamah
H Argani
H Martelli-Junior
H Martelli-Junior
H Meng
H Tsubochi
HE Pernu
HG Kim
HH Hong
HH Hong
HJ Wright
HR Lee
IB Houston
IP Baptista
J Anderson
J Bondeson
J Elizabeth
J Goldblatt
J Kather
J O’Sullivan
J Salehinejad
J Suhanya
JA Hobert
JA James
Jan Potempa
JB Croft
JE Higgs
JG Swart
JK Hartsfield Jr
JM Pina-Neto de
JM Thomason
JS Huang
K Gawron
K Gawron
K Kavvadia
KA Fantauzzo
Katarzyna Gawron
Katarzyna Łazarz-Bartyzel
KD Pagana
KF Novak
KI Kivirikko
L Alos
L Ardekian
L Häkkinen
L Kukkola
LP Bittencourt
LY Meng
M Aimetti
M Bonnaure-Mallet
M Castori
M Dure-Molla De la
M Kataoka
M Leppert
M Mavrogiannis
M Qaisi
M Satoh
M Scrieciu
M Stefanova
M Vered
M Zhou
Maria Chomyszyn-Gajewska
ME Rutherfurd
MI Uzel
MK Pasupuleti
MS Orloff
N Rahman
OF Chacon-Camacho
P Breton
P Casavecchia
P Meisel
P Phakey
P Shukla
P Tripathi
PC Namboodiripad
PC Trackman
PF Laband
PL Beales
PN Tandon
PS Thomas
PS Tiwana
R Chaturvedi
R Denadai
R Kalluri
R Kumar
R Li
R Sakamoto
RA Seymour
RA Seymour
RC Jordan
RC Jordan
RC Jordan
RD Coletta
RD Coletta
RD Coletta
RJ Gorlin
RJ Jorgenson
RK Hall
RM Drugowick
RM Steel
RP Abergel
RS Morton
RT Aimes
RV Rangdhol
S Barak
S Canun
S Kanagotagi
S Nishikawa
S Oota
S Puretic
S Scheidecker
S Xiao
SH Cho
SL Liston
SL Vishnoi
SM Jean
SP Sandhu
SS Ramachandra
SS Sume
SV Kala Vani
T Ilgenli
T Nakanishi
T Nishida
TC Hart
TC Hart
TC Hart
TD Rees
TM Hassell
TN Pereira
UB Korol
V Bharti
V Shashi
W Becker
WM Mendenhall
X Li
X Ye
XY Han
Y Ito
Y Jadwat
Y Ma
Y Ramon
Y Zhu
Z Dalirsani
Z Dalirsani
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
Author
AI Hollander den
B Kousal
+29 more
B Li
Bohdan Kousal
C Notredame
DT Hartong
IA Adzhubei
J Tosi
JA Cordovez
JM Schwarz
JT Dunnen den
JT Dunnen den
K Bujakowska
Lubica Dudakova
MA Sohrab
Michaela Hejtmankova
Michel Michaelides
MT Andreoli
OF Chacon-Camacho
P Kumar
Pavel Diblik
Petra Liskova
R Calabrese
Renata Gaillyova
RG Weleber
RH Henderson
RH Henderson
SG Jacobson
SP Daiger
TR Burke
Y Choi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylation
Author
A Chalkiadaki
A Iida
+34 more
A Iida
AM Siemiatkowska
C Jaliffa
C Lau
DM Silberman
EK Song
F Berger
F Coppieters
H Koso
I Perrault
J Wang
JB Lin
K Ueno
L Conforti
L Guarente
M Alkharashi
M Falk
M Watroba
M Wirth
MP Coleman
OF Chacon-Camacho
R Koenekoop
R Krishnakumar
S Balaiya
S Greenwald
S Satoh
SI Imai
SI Imai
SK Huang
T Leber
T Matsuda
XA Cambronne
Y Deng
Y Tabata
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
Author
A Maugeri
AI den Hollander
+38 more
AI den Hollander
Ashraf U Mannan
AT Fahim
AU Mannan
AV Cideciyan
B Li
B Reva
C Ferrer-Costa
C Kannabiran
C Rivolta
CG Woods
D Valverde
D Valverde
DA Thompson
F Hildebrandt
IA Adzhubei
JM Schwarz
K Nikopoulos
M Kirin
ME Shanks
Meenakshi Swaminathan
N Glockle
Nagasamy Soumittra
Neetha John
OF Chacon-Camacho
P Kumar
Parveen Sen
RF Mullins
RK Koenekoop
Rupali A Gadkari
S Srilekha
SM Gu
SR Dharmaraj
Srilekha Sundaramurthy
Swati Deshpande
Tharigopala Arokiasamy
VL Ramprasad
X Jin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa
Author
A McKenna
A Vugler
+40 more
AE Davidson
AE Davidson
AL Vincent
AM Siemiatkowska
B Malnic
B Zhou
BA Tucker
C Flegel
C Mendez-Vidal
C Woodard
E Feldmesser
G Li
H Li
H Zhao
HA Colbert
HM Cooper
J Cordle
JH Kuo
JM Schwarz
KI Aston
KM Nishiguchi
L Bordoli
L Buck
MG Claros
N Goldenberg-Cohen
OF Chacon-Camacho
P Duan
R Li
R Li
RM Kuhn
S Khateb
S Veltel
S Zuchner
SH Blanton
SJ Bowne
T Oda
T Plaseski
U Castiello
Y Gilad
Y Wang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
Author
A Maugeri
A Rivera
+41 more
AJ Coffey
AV September
BJ Klevering
E Pras
Feng Gu
Guangyu Zhao
HP Scholl
I Audo
J Permanyer
J Zernant
Jia Qu
K Fujinami
K Jaakson
K Neveling
KW Littink
L Baum
M Duno
M Kniazeva
M Michaelides
M Michaelides
MA Maw
MG Ross
Minghan Li
N Glockle
OF Chacon-Camacho
Ping Huang
Q Zhang
Qingjie Min
R Allikmets
SD Schwartz
SP Strom
Wei Shi
XF Huang
Xianglian Ge
Xiao Zhang
Xinping Yu
Yaming Wu
Yi Tong
Yuk Fai Leung
Z Yang
Zi-Bing Jin
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Intravenous delivery of adeno-associated virus 9-encoded IGF-1Ea propeptide improves post-infarct cardiac remodelling
Author
a Musarò
AA Butler
+46 more
AJ D’Ercole
AS Go
B Bostick
BK Kaspar
C Rommel
Ca Pacak
CD Blackstock
CW Yancy
DS Lee
E Gallego-Colon
E Lara-Pezzi
ER Barton-Davis
G Gao
GT Kovacs
H Fang
J Takagawa
J Tonkin
JL Zweier
JM Ruijter
JP Frindik
K-MR Prasad
KD Panse
L Pelosi
LW Dobrucki
M Hill
M Konishi
M Vinciguerra
MD Weitzman
ME Davis
MM López-Olañeta
MP Santini
MP Santini
MS Hede
OF Chacon-Camacho
OJ Müller
P Gregorevic
P Rotwein
P-W Cheng
RM Lang
RS Khan
S Deb
S Zacchigna
SA Coolican
Y Fujio
Z Laron
Z Wang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Neonatal disease environment limits the efficacy of retinal transplantation in the LCA8 mouse model
Author
AC Barber
AG van Rossum
+43 more
AI den Hollander
AI den Hollander
AK Mehalow
B Peng
C Hippert
C Leone
CH Alves
CH Alves
D Ito
EL West
EM Stone
FJ Livesey
G Munch
H Kohno
I Solovei
JG Hollyfield
Ji Yun Song
Jinyeon Shin
K Bujakowska
K Warre-Cornish
KA Rich
LF Chen
LP Pellissier
M Karlstetter
ML Block
MW Stuck
OF Chacon-Camacho
R Huang
R Seitz
RA Pearson
RK Koenekoop
S Omri
S Singhal
SA Jayakody
Seo-Hee Cho
Seonhee Kim
SH Cho
T Langmann
TS Aleman
TV Johnson
W Heavner
Y Feodorova
Y Tsai
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa
Author
A Avila-Fernandez
A Kurg
+52 more
AI den Hollander
B Dreyer
C Abadie
C Bonnet
C Hamel
C Rivolta
CH Bunker
D Blain
DT Hartong
EP Rakoczy
F Wang
GR Abecasis
I Audo
I Perrault
I Perrault
J Song
J Wang
J Wells
JD Churchill
JD Eudy
K Branham
K Neveling
KE Goetz
KM Nishiguchi
KW Littink
L Benayoun
L Zhao
M Michaelides
M Xu
ME McLaughlin
ME McLaughlin
ME Shanks
N Glockle
NB Haider
OF Chacon-Camacho
P Le Quesne Stabej
PD Stenson
RK Koenekoop
RW Collin
S Fuchs
S Walia
S Zahid
SP Daiger
SP Daiger
T Eisenberger
TL McGee
TP Dryja
TP Dryja
W Herrera
W Wiszniewski
X Liu
X Wang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
p.Arg82Leu von Hippel-Lindau (VHL) Gene Mutation among Three Members of a Family with Familial Bilateral Pheochromocytoma in India: Molecular Analysis and In Silico Characterization
Author
A Blank
A De Nicolo
+74 more
AG Knudson Jr
AJ Mohamed
Andrew Ebenazer
Anulekha Mary John
AO Ciftci
AR Fersht
Aravindan Nair
B Zbar
B Zhar
B Zsolt
BA Shirley
C Peter
CE Stebbins
CW Muller
D Gilis
DJ Barlow
DM Hunt
E Capriotti
EN Baker
F Chen
F Cherbal
George Priya Doss C
GY Meyer-Rochow
H Ashkenazy
H Dollfus
H Li
H Venselaar
HJC Berendsen
HP Neumann
HP Neumann
HX Hao
IA Adzhubei
KL Melmon
KR Ong
L Mohammadi
L Yip
LEW LaConte
M Ashburner
M Barontini
M Steen
M Vihinen
MA Abbott
MA Hoffman
MA Miteva
Mandalam Subramaniam Seshadri
MM Walther
MP Miller
MS Greenblatt
N Burnichon
N Guex
OF Chacon-Camacho
P Radice
P Sovinz
PA Crossey
PC Ng
PD Thomas
PRL Markwick
R Bruschweiler
R Calabrese
R Karchin
Rekha Pai
S Sunyaev
S Witham
SC Clifford
SD Mooney
Simon Rajaratnam
U Essmann
V Calo
V Kantorovich
Vincenzo Lionetti
WL Jorgensen
Y Qin
YH Hsu
Z Zhang
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
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