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Optic Atrophy, Autosomal Dominant
Known as:
Optic Atrophy, Juvenile
, Atrophy, Juvenile Optic
, Optic Atrophy, Hereditary, Autosomal Dominant
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Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic…
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National Institutes of Health
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Related topics
Related topics
13 relations
Autosomal dominant inheritance
Color Blindness, Blue
Color Blindness, Red-Green
Eye
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
UWB doublet generation using nonlinearly-biased electro-optic intensity modulator
Qing Wang
,
Jianping Yao
2006
Corpus ID: 85507365
A novel and simple method to generate an ultra-wideband (UWB) doublet using an electro-optic intensity modulator (EOM) is…
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Highly Cited
2003
Highly Cited
2003
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q
F. Barbet
,
S. Gerber
,
+8 authors
J. Kaplan
European Journal of Human Genetics
2003
Corpus ID: 1648606
In contrast to the frequent dominant optic atrophies (DOAs) in which the neuropathy is usually an isolated event, isolated…
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Highly Cited
1999
Highly Cited
1999
Probing the symmetry of the nonlinear optic chromophore Ru(trans-4,4'- diethylaminostyryl-2,2'-bipyridine)32+: Insight from polarized hyper- Rayleigh scattering and electroabsorption (Stark…
Fredrick W. Vance
,
J. Hupp
1999
Corpus ID: 17379751
Polarized hyper-Rayleigh scattering (HRS) has been used to interrogate a putative octupolar “super” chromophore Ru(trans-4,4…
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Highly Cited
1995
Highly Cited
1995
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.
Rosemary E. Kelsell
,
Bernard F. Godley
,
+6 authors
David M. Hunt
Human Molecular Genetics
1995
Corpus ID: 32603313
Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have…
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1995
1995
Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.
A. Lunkes
,
U. Hartung
,
+7 authors
G. Auburger
American Journal of Human Genetics
1995
Corpus ID: 44915321
Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is therefore the most common form of…
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Highly Cited
1991
Highly Cited
1991
375‐GHz‐bandwidth photoconductive detector
Y. Chen
,
S. Williamson
,
T. Brock
,
F. Smith
,
A. Calawa
1991
Corpus ID: 45244843
We report the development of a new, integrable photoconductive detector, based on low‐temperature‐grown GaAs, that has a response…
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Highly Cited
1979
Highly Cited
1979
Cephalic neurulation and optic vesicle formation in the early mouse embryo.
M. Kaufman
American Journal of Anatomy
1979
Corpus ID: 10072174
The overall pattern of cephalic neurulation and the concomitant early development of the optic vesicles in mouse embryos were…
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Highly Cited
1977
Highly Cited
1977
Biochemical investigations of retinotectal adhesive specificity
R. Marchase
Journal of Cell Biology
1977
Corpus ID: 9894933
The preferential adhesion of chick neural retina cells to surfaces of intact optic tecta has been investigated biochemically. The…
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Highly Cited
1976
Highly Cited
1976
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
P. Bowen
,
H. Armstrong
Clinical Genetics
1976
Corpus ID: 42228504
Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate…
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Highly Cited
1973
Highly Cited
1973
Synaptic reorganization in the degenerating lateral geniculate nucleus of the rabbit
H. Ralston
,
K. Chow
The Journal of comparative neurology
1973
Corpus ID: 19228888
An investigation of synaptic plasticity in the lateral geniculate nucleus has been carried out in rabbits surviving one day to…
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