Works by Fishman, Gerald
Results: 65
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
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- Human Mutation, 2014, v. 35, n. 10, p. 1187, doi. 10.1002/humu.22626
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- Article
Dealer Options.
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- Journal of Futures Markets, 1981, v. 1, n. 1, p. 535
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- Article
Local time and seasonal variations in the precipitation of energetic electrons from the inner radiation belt by cyclotron resonance with waves from powerful VLF transmitters.
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- Radio Science, 1995, v. 30, n. 1, p. 47, doi. 10.1029/94RS02592
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- Article
Gamma-Ray Observatory: The next great observatory in space.
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- Mercury, 1990, v. 19, n. 4, p. 98
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- Article
Chorioretinal Lesions in a Case of Melanoma-Associated Retinopathy Treated With Pembrolizumab.
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- 2016
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- journal article
Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290.
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- JAMA Ophthalmology, 2013, v. 131, n. 2, p. 178, doi. 10.1001/2013.jamaophthalmol.354
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- Article
Gamma-Ray Burst Mini-Symposium - Introductory Remarks.
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- Annals of the New York Academy of Sciences, 1995, v. 759, n. 1, p. 410, doi. 10.1111/j.1749-6632.1995.tb17574.x
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- Article
BATSE Highlights.
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- Annals of the New York Academy of Sciences, 1995, v. 759, n. 1, p. 232, doi. 10.1111/j.1749-6632.1995.tb17534.x
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- Article
Gamma Ray Observations of the Crab Pulsar-Past, Present, Future.
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- Annals of the New York Academy of Sciences, 1992, v. 655, n. 1, p. 309, doi. 10.1111/j.1749-6632.1992.tb17079.x
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- Article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
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- Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480
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- Article
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
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- Human Mutation, 2001, v. 18, n. 6, p. 550, doi. 10.1002/humu.1243
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- Article
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
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- Human Mutation, 2001, v. 17, n. 2, p. 151, doi. 10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W
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- Article
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
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- Human Mutation, 1999, v. 14, n. 5, p. 423, doi. 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D
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- Article
A Novel PAX6 Mutation in a Patient with Nonsyndromic Dominant Foveal Hypoplasia and Congenital Nystagmus.
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- Optometry & Visual Performance, 2019, v. 7, n. 5/6, p. 323
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- Article
iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.
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- Human Molecular Genetics, 2013, v. 22, n. 3, p. 593, doi. 10.1093/hmg/dds469
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- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu396
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- Article
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
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- PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1010129
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- Article
Psychological Profiles of Patients with Central Vision Loss.
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- Journal of Visual Impairment & Blindness, 2000, v. 94, n. 12, p. 781, doi. 10.1177/0145482x0009401206
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- Article
Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.
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- Ophthalmic Genetics, 2016, v. 37, n. 2, p. 150, doi. 10.3109/13816810.2014.958861
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- Article
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy.
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- Ophthalmic Genetics, 2015, v. 36, n. 3, p. 270, doi. 10.3109/13816810.2015.1010736
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- Article
Resolution of Mid-Peripheral Schisis in X-Linked Retinoschisis with the Use of Dorzolamide.
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- Ophthalmic Genetics, 2014, v. 35, n. 2, p. 125, doi. 10.3109/13816810.2013.779383
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- Article
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography.
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- Ophthalmic Genetics, 2014, v. 35, n. 1, p. 47, doi. 10.3109/13816810.2013.804095
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- Article
Electroretinographic Findings in a Patient with Congenital Stationary Night Blindness Due to a Novel NYX Mutation.
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- Ophthalmic Genetics, 2013, v. 34, n. 3, p. 167, doi. 10.3109/13816810.2012.743570
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- Article
Structural and Functional Measures of Inner Retinal Integrity Following Visual Acuity Improvement in a Patient with Hereditary Motor and Sensory Neuropathy Type VI.
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- Ophthalmic Genetics, 2011, v. 32, n. 3, p. 188, doi. 10.3109/13816810.2011.587859
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- Article
Retinal Nerve Fiber Thickness Measurements In Choroideremia Patients With Spectral-Domain Optical Coherence Tomography.
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- Ophthalmic Genetics, 2011, v. 32, n. 2, p. 101, doi. 10.3109/13816810.2010.544364
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- Article
Microperimetry and OCT findings in female carriers of choroideremia.
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- Ophthalmic Genetics, 2010, v. 31, n. 4, p. 235, doi. 10.3109/13816810.2010.518578
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- Article
Historical evolution in the understanding of Stargardt macular dystrophy.
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- Ophthalmic Genetics, 2010, v. 31, n. 4, p. 183, doi. 10.3109/13816810.2010.499887
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- Article
Spectral-Domain Optical Coherence Tomography and Fundus Autofluorescence Characteristics in Patients with Fundus Albipunctatus and Retinitis Punctata Albescens.
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- Ophthalmic Genetics, 2010, v. 31, n. 2, p. 66, doi. 10.3109/13816810903584971
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- Article
Retinal pathology of a patient with Goldmann-Favre Syndrome.
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- Ophthalmic Genetics, 2009, v. 30, n. 4, p. 172, doi. 10.3109/13816810903176765
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- Article
Natural History of Phenotypic Changes in Stargardt Macular Dystrophy.
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- Ophthalmic Genetics, 2009, v. 30, n. 2, p. 63, doi. 10.1080/13816810802695550
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- Article
Flecked-Retina Syndromes.
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- Ophthalmic Genetics, 2009, v. 30, n. 2, p. 69, doi. 10.1080/13816810802654516
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- Article
John Dalton: Though in Error, He Still Influenced Our Understanding of Congenital Color Deficiency.
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- Ophthalmic Genetics, 2008, v. 29, n. 4, p. 162, doi. 10.1080/13816810802251446
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- Article
Retinal Dysfunction in Carriers of Bardet-Biedl Syndrome.
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- Ophthalmic Genetics, 2007, v. 28, n. 3, p. 163, doi. 10.1080/13816810701537440
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- Article
Abnormal Distribution of Red/Green Cone Opsins in a Patient with an Autosomal Dominant Cone Dystrophy.
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- Ophthalmic Genetics, 2005, v. 26, n. 2, p. 69, doi. 10.1080/13816810590968041
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- Article
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
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- Article
Polymorphisms and rare sequence variants at the ROM1 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1975
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- Article
Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice.
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- Science Translational Medicine, 2020, v. 12, n. 573, p. 1, doi. 10.1126/scitranslmed.aaz4894
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- Article
Terrestrial gamma-ray flashes in the Fermi era: Improved observations and analysis methods.
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- Journal of Geophysical Research. Space Physics, 2013, v. 118, n. 6, p. 3805, doi. 10.1002/jgra.50205
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- Article
Multimodal Imaging of Photoreceptor Structure in Choroideremia.
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167526
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- Article
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
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- Nature Genetics, 2000, v. 24, n. 2, p. 127, doi. 10.1038/72777
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- Article
Loss-of-function mutations in a calcium-channel α<sub>1</sub>-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
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- Nature Genetics, 1998, v. 19, n. 3, p. 264, doi. 10.1038/947
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- Article
Pathognomonic macular ripples are revealed by polarized infrared retinal imaging.
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- Experimental Biology & Medicine, 2021, v. 246, n. 20, p. 2202, doi. 10.1177/15353702211021089
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- Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
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- Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
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- Article
The lightning-TGF relationship on microsecond timescales.
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- Geophysical Research Letters, 2011, v. 38, n. 14, p. n/a, doi. 10.1029/2011GL048099
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- Article
Electron-positron beams from terrestrial lightning observed with Fermi GBM.
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- Geophysical Research Letters, 2011, v. 38, n. 2, p. n/a, doi. 10.1029/2010GL046259
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- Article
Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy.
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- Case Reports in Ophthalmological Medicine, 2016, p. 1, doi. 10.1155/2016/9685290
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- Article
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia.
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- Current Eye Research, 2020, v. 45, n. 10, p. 1257, doi. 10.1080/02713683.2020.1737138
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- Article
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
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- Human Molecular Genetics, 2021, v. 30, n. 14, p. 1293, doi. 10.1093/hmg/ddab122
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- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6797, doi. 10.1093/hmg/ddu396
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- Publication type:
- Article
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367
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- Article