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7 research outputs found
Clinical utility gene card for: Choroideremia
Author
AB Renner
Andrew R Webster
+20 more
FP Cremers
G Esposito
Graeme CM Black
H van Bokhoven
IJ Lorda-Sanchez
IM MacDonald
J Karna
JA van den Hurk
Jonathan Y. Chi
K Mukkamala
M Michaelides
M Moosajee
M Mura
Mariya Moosajee
Miguel C Seabra
PA Sieving
Simon C Ramsden
SJ Bowne
T Tolmachova
YV Sergeev
Publication venue
'Springer Science and Business Media LLC'
Publication date
21/08/2013
Field of study
No full text
Crossref
PubMed Central
The University of Manchester - Institutional Repository
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
Author
Almudena Avila-Fernandez
Andreas R. Janecke
+39 more
Ascension Gimenez
B Larijani
Blanca Garcia-Sandoval
Carlo Rivolta
Carmen Ayuso
Cristina Villaverde
DA Andres
E Lutsenko
Fiona Blanco-Kelly
IJ Lorda-Sanchez
IM MacDonald
IS Dimopoulous
Isabel Lorda
JA van den Hurk
JF Crow
KE McTaggart
Luciana Rodrigues-Jacy da Silva
M Corton
M Garcia-Hoyos
M Preising
Maria Garcia-Hoyos
Maria Isabel Lopez-Molina
Maria J. Trujillo-Tiebas
Marta Corton
MC Seabra
MC Seabra
Miguel Angel Lopez-Martinez
MJ Trujillo
N Cereso
Noelia Sanchez-Bolivar
Olga Zurita
P Donnelly
Raquel Perez-Carro
Rocio Sanchez-Alcudia
Rosa Riveiro-Alvarez
S Li
Simona Torriano
Vasiliki Kalatzis
Y Sun
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Clinical utility gene card for: Choroideremia
Author
AB Renner
Andrew R Webster
+20 more
FP Cremers
G Esposito
Graeme CM Black
H van Bokhoven
IJ Lorda-Sanchez
IM MacDonald
J Karna
JA van den Hurk
Jonathan Y. Chi
K Mukkamala
M Michaelides
M Moosajee
M Mura
Mariya Moosajee
Miguel C Seabra
PA Sieving
Simon C Ramsden
SJ Bowne
T Tolmachova
YV Sergeev
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Author
AB Renner
Anna Skorczyk-Werner
+28 more
Anna Wawrocka
DA Andres
G Esposito
H Bokhoven van
H Guo
HJ Perez-Cano
IJ Lorda-Sanchez
IM MacDonald
IS Dimopoulos
IS Dimopoulos
JA Hurk van den
JA Hurk van den
K Endo
K Shimizu
L Beaufrère
M Köhnke
M Moosajee
M Schwartz
Maciej Robert Krawczynski
MC Seabra
MP Simunovic
Natalia Kochalska
PR Freund
R Sanchez-Alcudia
RE MacLaren
S Li
S Torriano
XB Cai
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
Author
Akira Nishimura-Tadaki
C Sala
+39 more
CB Coulam
D Schlessinger
DB Borza
E Therman
F Rizzolio
F Rizzolio
Fumiki Hirahara
G Bano
Gen Nishimura
Gul Bano
Haruka Hamanoue
Hideya Sakakibara
Hiroshi Doi
Hirotomo Saitsu
HW Yen
IJ Lorda-Sanchez
J Khoshnoodi
J Zhou
Janet Warner
JM Hertz
K Sugimoto
K Tamura
Karen Gough
Keiko Wakui
L Carrel
MG Vizioli
Naomichi Matsumoto
Noriko Ando
Noriko Miyake
RC Allen
RL Prueitt
RL Prueitt
S Mazaud Guittot
T Kubota
Takahito Wada
Tomoki Kosho
W Gu
Yoshimitsu Fukushima
Yoshinori Tsurusaki
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Choroideremia: A review of general findings and pathogenesis
Author
Anand V
Ayazi S
+71 more
Bahadoran P
Beaufrère L
Becerra SP
Bedell A
Cameron JD
Corbeel L
Cremers FP
Cremers FP
de Kok YJM
Dowling JE
Edwards RB
Elias I. Traboulsi
Flannery JG
Grover S
Hayakawa M
Hume AN
Hynes SR
Iino Y
Jacobson SG
Krill AE
Krock BL
Kurstjens JH
Kärnä J
LaVail MM
Lorda-Sanchez IJ
Lund RD
MacDonald IM
MacDonald IM
Maunther H
McCulloch C
McCulloch JC
Merry DE
Miller SS
Mukkamala K
Mura M
Noro Y
Nussbaum RL
O SJ
Ohba N
Pameyer JK
Pereira-Leal JB
Pinckers A
Poloschek CM
Ponjavic V
Preising M
Preising MN
Prokofyeva E
Razek Georges Coussa
Renner AB
Roberts MF
Robinson D
Rodrigues MM
Rodrigues MM
Rosenberg T
Seabra MC
Sieving PA
Starr CJ
Syed N
Thobani A
Vajaranant TS
Valk LE.
van Bokhoven H
van den Bosch J
van den Hurk JA
Wakabayashi K
Wilson SM
Wolff S
Yau RJ
Yntema HG
Young RW
Zhao DY
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Pathogenic mechanisms and the prospect of gene therapy for choroideremia
Author
Acton JH
Anand V
+81 more
Andres DA
Barnard AR
Bennett J
Birch DG
Black A
Campos-Pavón J
Carrel L
Corbeel L
Coussa RG
Cremers FP
Cremers FP
Edwards TL
Endo K
Esposito G
Freund P
Fujiki K
Genead MA
Genead MA
Gordiyenko NV
Grover AK
Hayasaka S
Heckenlively J
Hoffman DR
Holz FG
Jacobson SG
Kaiser PK
Krock BL
Kärnä J
Köhnke M
Larijani B
Lee TK
Lorda-Sanchez IJ
MacDonald IM
MacDonald IM
MacDonald IM
MacDonald IM
McTaggart KE
Merry DE
Moosajee M
Moosajee M
Morgan JI
Mukkamala K
Nussbaum RL
Palejwala NV
Pereira-Leal JB
Perez-Cano HJ
Poloschek CM
Potter MJ
Preising MN
Pylypenko O
Rak A
Robinson D
Rosenberg T
Rosenberg T
Rudolph G
Rush ET
Sakamoto K
Salvatore S
Sankila EM
Schwartz M
Schwarz N
Seabra MC
Seabra MC
Seabra MC
Sergeev YV
Spaide RF
Strunnikova N
Syed N
Syed R
Testa F
Tolmachova T
Tolmachova T
Tolmachova T
Tolmachova T
Vajaranant TS
van de Pol TJ
van den Hurk JA
Wang Q
Wuthisiri W
Zhao DY
Zhou Q
Publication venue
'Informa Healthcare'
Publication date
Field of study
No full text
Crossref