Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
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Maureen Neitz | Alfredo Dubra | Edwin M Stone | Joseph Carroll | J Jason McAnany | Pooja Godara | J. J. McAnany | Michel Michaelides | Robert F Cooper | Adam M Dubis | Panagiotis I Sergouniotis | A. Dubra | Dennis P. Han | G. Fishman | E. Stone | M. Neitz | P. Sergouniotis | M. Michaelides | A. Webster | A. Moore | J. Carroll | A. Dubis | R. F. Cooper | M. Genead | Pooja Godara | Anthony T Moore | Gerald A Fishman | Andrew R Webster | Dennis P Han | Melissa A Diederichs | Megan R Streb | Mohamed A Genead | Melissa A. Diederichs | Megan R. Streb | A. Moore | J. McAnany | P. Godara
[1] David Williams,et al. The reflectance of single cones in the living human eye. , 2002, Investigative ophthalmology & visual science.
[2] F. Riemslag,et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. , 2005, Investigative ophthalmology & visual science.
[3] G. Fishman,et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. , 1998, Nature genetics.
[4] R. Sergott. The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction , 2008 .
[5] G. Holder,et al. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. , 2009, American journal of human genetics.
[6] M. Lavail,et al. A naturally occurring mouse model of X-linked congenital stationary night blindness. , 1998, Investigative ophthalmology & visual science.
[7] G. Holder,et al. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene , 2012, Acta ophthalmologica.
[8] A. Roorda,et al. Intrinsic signals from human cone photoreceptors. , 2008, Investigative ophthalmology & visual science.
[9] T. Dryja. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. , 2000, American journal of ophthalmology.
[10] K. Yagasaki,et al. On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. , 1987, Japanese journal of ophthalmology.
[11] Jae-Wook Yang,et al. Congenital Stationary Night Blindness with Myopia , 2003 .
[12] S. Tsang,et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. , 2012, American journal of ophthalmology.
[13] Donald T. Miller,et al. In vivo functional imaging of human cone photoreceptors. , 2007, Optics express.
[14] M. Urashima,et al. Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene , 2011, Ophthalmic Research.
[15] M. McCall,et al. Comparisons of structural and functional abnormalities in mouse b‐wave mutants , 2008, The Journal of physiology.
[16] E. Zrenner,et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. , 2006, American journal of human genetics.
[17] Jungtae Rha,et al. Variable optical activation of human cone photoreceptors visualized using a short coherence light source. , 2009, Optics letters.
[18] N. Yoshimura,et al. Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease. , 2011, Retina.
[19] Julia S. Kroisamer,et al. Temporal changes of human cone photoreceptors observed in vivo with SLO/OCT , 2010, Biomedical optics express.
[20] Jessica I. W. Morgan,et al. Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin , 2009, Proceedings of the National Academy of Sciences.
[21] T. Léveillard,et al. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. , 2009, American journal of human genetics.
[22] J B Hurley,et al. Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[23] H. Moulick,et al. Biomedical Image Registration Using Fuzzy Logic , 2013 .
[24] David Williams,et al. Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope , 2011, Biomedical optics express.
[25] S. Kishi,et al. Shortening of the rod outer segment in Oguchi disease , 2009, Graefe's Archive for Clinical and Experimental Ophthalmology.
[26] A. Cideciyan,et al. Relation of optical coherence tomography to microanatomy in normal and rd chickens. , 1998, Investigative ophthalmology & visual science.
[27] Donald T. Miller,et al. Imaging outer segment renewal in living human cone photoreceptors. , 2010, Optics express.
[28] K. Yagasaki,et al. Congenital stationary night blindness with negative electroretinogram. A new classification. , 1986 .
[29] C. Craft,et al. Species-Specific Differences in Expression of G-Protein-Coupled Receptor Kinase (GRK) 7 and GRK1 in Mammalian Cone Photoreceptor Cells: Implications for Cone Cell Phototransduction , 2001, The Journal of Neuroscience.
[30] Austin Roorda,et al. Automated identification of cone photoreceptors in adaptive optics retinal images. , 2007, Journal of the Optical Society of America. A, Optics, image science, and vision.
[31] M. Kato,et al. Congenital stationary night blindness with myopia: a clinicopathologic study , 1986, Documenta Ophthalmologica.
[32] T. Dryja,et al. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness , 1997, Nature Genetics.
[33] D. M. Tait,et al. Retinal imaging using commercial broadband optical coherence tomography , 2009, British Journal of Ophthalmology.
[34] P. Sergouniotis,et al. Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene , 2011, Eye.
[35] Ashavini M. Pavaskar,et al. Spatial and temporal variation of rod photoreceptor reflectance in the human retina , 2011, Biomedical optics express.
[36] C. Zeitz. Molecular genetics and protein function involved in nocturnal vision , 2007 .
[37] G. Schubert,et al. Beitrag zur Analyse des menschlichen Elektroretinogramms , 1952 .
[38] R. Carr. Congenital stationary nightblindness. , 1974, Transactions of the American Ophthalmological Society.
[39] Kenneth R Alexander,et al. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[40] Olivier Poch,et al. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. , 2012, American journal of human genetics.
[41] M. Kamermans,et al. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. , 2012, American journal of human genetics.
[42] K. Palczewski,et al. Rhodopsin phosphorylation: 30 years later , 2003, Progress in Retinal and Eye Research.
[43] D. M. Tait,et al. Arrested development: High-resolution imaging of foveal morphology in albinism , 2010, Vision Research.
[44] J. Sahel,et al. Genotyping microarray for CSNB-associated genes. , 2009, Investigative ophthalmology & visual science.
[45] C. Curcio,et al. ANATOMICAL CORRELATES TO THE BANDS SEEN IN THE OUTER RETINA BY OPTICAL COHERENCE TOMOGRAPHY: Literature Review and Model , 2011, Retina.
[46] Makoto Nakamura,et al. TRPM1 mutations are associated with the complete form of congenital stationary night blindness , 2010, Molecular vision.
[47] Christopher S. Langlo,et al. Repeatability of In Vivo Parafoveal Cone Density and Spacing Measurements , 2012, Optometry and vision science : official publication of the American Academy of Optometry.
[48] M. Tamai,et al. A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese , 1995, Nature Genetics.
[49] C. Beaulieu,et al. Congenital stationary night blindness: mutation update and clinical variability. , 2012, Advances in experimental medicine and biology.
[50] K. Shinoda,et al. Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease , 2009, Japanese Journal of Ophthalmology.
[51] M. Takagi,et al. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease. , 2000, American journal of ophthalmology.
[52] J. S. Kelley,et al. Correlation of clinicopathologic findings in a patient. Congenital night blindness, branch retinal vein occlusion, cilioretinal artery, drusen of the optic nerve head, and intraretinal pigmented lesion. , 1978, Archives of ophthalmology.
[53] A. Dubra,et al. Reflective afocal broadband adaptive optics scanning ophthalmoscope , 2011, Biomedical optics express.
[54] Kym M. Boycott,et al. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness , 1998, Nature Genetics.
[55] Alfredo Dubra,et al. Registration of 2D Images from Fast Scanning Ophthalmic Instruments , 2010, WBIR.
[56] G. Schubert,et al. [Analysis of the human electroretinogram]. , 1952, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.
[57] E. Zrenner,et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. , 2006, American Journal of Human Genetics.
[58] Jungtae Rha,et al. Adaptive optics flood-illumination camera for high speed retinal imaging. , 2003, Optics express.
[59] S. Jacobson,et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness , 2000, Nature Genetics.
[60] Bernd Fischer,et al. Biomedical Image Registration, 4th International Workshop, WBIR 2010, Lübeck, Germany, July 11-13, 2010. Proceedings , 2010, Workshop on Biomedical Image Registration.
[61] K. Boycott,et al. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. , 2000, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.
[62] E. Zrenner,et al. Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert–Bornschein type , 2002, Vision Research.
[63] A. Hendrickson,et al. Human photoreceptor topography , 1990, The Journal of comparative neurology.
[64] R. Weekers,et al. NOUVELLE CONTRIBUTION À L‘ÉTUDE DE LA CYCLODIATHERMY NON PERFORANTE DANS LE TRAITEMENT DES DIVERSES FORMES DU GLAUCOME , 1946 .
[65] M. Kamermans,et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. , 2009, American journal of human genetics.