共 7 条
[1]
Phenotypic variation in enhanced S-cone syndrome
[J].
Audo, Isabelle
;
Michaelides, Michel
;
Robson, Anthony G.
;
Hawlina, Marko
;
Vaclavik, Veronika
;
Sandbach, Jennifer M.
;
Neveu, Magella M.
;
Hogg, Chris R.
;
Hunt, David M.
;
Moore, Anthony T.
;
Bird, Alan C.
;
Webster, Andrew R.
;
Holder, Graham E.
.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE,
2008, 49 (05)
:2082-2093

Audo, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England
Univ Paris 06, INSERM, Lab Physiopathol Cellulaire Mol & Retine, U592, Paris, France Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Michaelides, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Robson, Anthony G.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Hawlina, Marko
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Eye Hosp, Med Ctr Ljubljana, Ljubljana, Slovenia Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Vaclavik, Veronika
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Sandbach, Jennifer M.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
Prince Wales Hosp, Dept Ophthalmol, Randwick, NSW 2031, Australia Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Neveu, Magella M.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Hogg, Chris R.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Hunt, David M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Moore, Anthony T.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Bird, Alan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Webster, Andrew R.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England

Holder, Graham E.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Electrophysiol, London EC1V 2PD, England
[2]
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
[J].
Haider, NB
;
Jacobson, SG
;
Cideciyan, AV
;
Swiderski, R
;
Streb, LM
;
Searby, C
;
Beck, G
;
Hockey, R
;
Hanna, DB
;
Gorman, S
;
Duhl, D
;
Carmi, R
;
Bennett, J
;
Weleber, RG
;
Fishman, GA
;
Wright, AF
;
Stone, EM
;
Sheffield, VC
.
NATURE GENETICS,
2000, 24 (02)
:127-131

Haider, NB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Jacobson, SG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Cideciyan, AV
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Swiderski, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Streb, LM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Searby, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Beck, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Hockey, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Hanna, DB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Gorman, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Duhl, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Carmi, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

论文数: 引用数:
h-index:
机构:

Weleber, RG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

论文数: 引用数:
h-index:
机构:

Wright, AF
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Stone, EM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA

Sheffield, VC
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Howard Hughes Med Inst, Dept Pediat, Iowa City, IA 52242 USA
[3]
Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children
[J].
Hull, Sarah
;
Arno, Gavin
;
Sergouniotis, Panagiotis I.
;
Tiffin, Peter
;
Borman, Arundhati Dev
;
Chandra, Aman
;
Robson, Anthony G.
;
Holder, Graham E.
;
Webster, Andrew R.
;
Moore, Anthony T.
.
JAMA OPHTHALMOLOGY,
2014, 132 (11)
:1341-1349

Hull, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Arno, Gavin
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England UCL, Inst Ophthalmol, London, England

Sergouniotis, Panagiotis I.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Tiffin, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Sunderland Eye Infirm, Sunderland, England UCL, Inst Ophthalmol, London, England

Borman, Arundhati Dev
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Chandra, Aman
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Robson, Anthony G.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Holder, Graham E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Webster, Andrew R.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England

Moore, Anthony T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Ophthalmol, London, England
Moorfields Eye Hosp, London EC1V 2PD, England UCL, Inst Ophthalmol, London, England
[4]
ISCEV Standard for full-field clinical electroretinography (2015 update)
[J].
McCulloch, Daphne L.
;
Marmor, Michael F.
;
Brigell, Mitchell G.
;
Hamilton, Ruth
;
Holder, Graham E.
;
Tzekov, Radouil
;
Bach, Michael
.
DOCUMENTA OPHTHALMOLOGICA,
2015, 130 (01)
:1-12

McCulloch, Daphne L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Marmor, Michael F.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Sch Med, Dept Ophthalmol, Byers Eye Inst, Stanford, CA 94305 USA Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Brigell, Mitchell G.
论文数: 0 引用数: 0
h-index: 0
机构:
Aerpio Therapeut, Clin Res Ophthalmol, Cincinnati, OH USA Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Hamilton, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
NHS Greater Glasgow & Clyde, Royal Hosp Sick Children, Dept Clin Phys, Glasgow, Lanark, Scotland
Univ Glasgow, Coll Med Vet & Life Sci, Glasgow, Lanark, Scotland Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Holder, Graham E.
论文数: 0 引用数: 0
h-index: 0
机构:
Moorfields Eye Hosp, London, England Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Tzekov, Radouil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ S Florida, Dept Ophthalmol, Tampa, FL USA Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada

Bach, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Ctr Eye, Sect Visual Funct, D-79106 Freiburg, Germany Univ Waterloo, Sch Optometry & Vis Sci, Waterloo, ON N2L 3G1, Canada
[5]
Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: A case report
[J].
Minnella A.M.
;
Pagliei V.
;
Savastano M.C.
;
Federici M.
;
Bertelli M.
;
Maltese P.E.
;
Placidi G.
;
Corbo G.
;
Falsini B.
;
Caporossi A.
.
Journal of Medical Case Reports,
12 (1)

Minnella A.M.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Pagliei V.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Savastano M.C.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Federici M.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Bertelli M.
论文数: 0 引用数: 0
h-index: 0
机构:
MAGI, Human Medical Genetics Institute, Bolzano Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Maltese P.E.
论文数: 0 引用数: 0
h-index: 0
机构:
MAGI, Human Medical Genetics Institute, Bolzano Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Placidi G.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Corbo G.
论文数: 0 引用数: 0
h-index: 0
机构:
Department of Ophthalmology, Università la Sapienza, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Falsini B.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome

Caporossi A.
论文数: 0 引用数: 0
h-index: 0
机构:
Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome Institute of Ophthalmology, Università Cattolica Del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome
[6]
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome)
[J].
Tsang, Stephen H.
;
Sharma, Tarun
.
ATLAS OF INHERITED RETINAL DISEASES,
2018, 1085
:153-156

Tsang, Stephen H.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA
Columbia Univ, Inst Human Nutr, Dept Biomed Engn, Vagelos Coll Phys & Surg, New York, NY 10032 USA
Columbia Univ, Inst Human Nutr, Dept Pathol, Vagelos Coll Phys & Surg, New York, NY 10032 USA
Columbia Univ, Inst Human Nutr, Dept Cell Biol, Vagelos Coll Phys & Surg, New York, NY 10032 USA
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA

Sharma, Tarun
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA
[7]
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene
[J].
Wang, N-K
;
Fine, H. F.
;
Chang, S.
;
Chou, C. L.
;
Cella, W.
;
Tosi, J.
;
Lin, C-S
;
Nagasaki, T.
;
Tsang, S. H.
.
BRITISH JOURNAL OF OPHTHALMOLOGY,
2009, 93 (09)
:1234-1240

Wang, N-K
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA
Chang Gung Mem Hosp, Dept Ophthalmol, Linkou, Taiwan Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Fine, H. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Chang, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Chou, C. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Cella, W.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Tosi, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Lin, C-S
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Nagasaki, T.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA

Tsang, S. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA Edward Harkness Eye Inst, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA