Eliot L. Berson
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Philosophy
Eliot L. Berson's Degrees
- Doctorate Medicine Harvard University
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(Suggest an Edit or Addition)Eliot L. Berson's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A point mutation of the rhodopsin gene in one form of retinitis pigmentosa (1990) (1009)
- Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. (1994) (764)
- Retinitis pigmentosa. The Friedenwald Lecture. (1993) (661)
- Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa (1993) (600)
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. (1998) (465)
- Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa (1991) (457)
- Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (1990) (454)
- Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa (1992) (452)
- Prevalence of retinitis pigmentosa in Maine. (1984) (426)
- A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa (1992) (416)
- Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. (1991) (360)
- Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness (1993) (316)
- Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. (1995) (310)
- Null RPGRIP1 alleles in patients with Leber congenital amaurosis. (2001) (285)
- Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999) (276)
- A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. (1993) (273)
- Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. (1995) (273)
- A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). (2000) (256)
- Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness (1997) (252)
- Natural course of retinitis pigmentosa over a three-year interval. (1985) (248)
- Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. (2000) (243)
- Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase (1995) (241)
- Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (2005) (232)
- Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). (1991) (231)
- The association between visual acuity and central retinal thickness in retinitis pigmentosa. (2005) (206)
- A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens (1993) (206)
- Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa (1998) (202)
- RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. (2003) (196)
- Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. (1997) (190)
- In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. (1994) (187)
- Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa (1999) (183)
- Paraneoplastic night blindness with malignant melanoma. (1988) (178)
- Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses. (2004) (174)
- Retinal degeneration in cats fed casein. I. Taurine deficiency. (1976) (173)
- NMNAT1 mutations cause Leber congenital amaurosis (2012) (172)
- Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. (1998) (171)
- Retinal ultrastructure in advanced retinitis pigmentosa. (1977) (171)
- Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. (2010) (168)
- Rod responses in retinitis pigmentosa, dominantly inherited. (1968) (165)
- Histopathologic findings in Best's vitelliform macular dystrophy. (1988) (163)
- Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. (2004) (158)
- Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. (1991) (157)
- Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (2003) (157)
- Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium. (1979) (153)
- Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle (2008) (153)
- Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation (2004) (150)
- Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. (1999) (146)
- Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. (1999) (145)
- Temporal aspects of the electroretinogram. (1969) (144)
- Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. (2002) (143)
- Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa (1999) (140)
- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. (2011) (138)
- Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (2001) (135)
- Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa (2010) (128)
- Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. (1995) (128)
- Barrier to Autointegration Factor Interacts with the Cone-Rod Homeobox and Represses Its Transactivation Function* (2002) (124)
- Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene (2013) (123)
- Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. (2007) (122)
- Cone cGMP‐gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases (2005) (121)
- Retinitis pigmentosa: unfolding its mystery. (1996) (117)
- Progressive cone-rod degeneration. (1968) (116)
- Dominant retinitis pigmentosa with reduced penetrance. (1969) (116)
- Retinitis pigmentosa. A symposium on terminology and methods of examination. (1983) (114)
- Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. (1979) (110)
- Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations (2006) (109)
- Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. (2004) (109)
- A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. (2011) (108)
- Rod and cone responses in sex-linked retinitis pigmentosa. (1969) (104)
- X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (2000) (103)
- Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. (1997) (99)
- An ultrastructural study of nutritionally induced and reversed retinal degeneration in cats. (1975) (99)
- Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. (2008) (98)
- Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX (2001) (97)
- Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture. (2007) (96)
- Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. (2004) (96)
- An electroretinographic and molecular genetic study of X-linked cone degeneration. (1989) (96)
- Retinal degeneration in cats fed casein. II. Supplementation with methionine, cysteine, or taurine. (1976) (95)
- Risk factors for genetic typing and detection in retinitis pigmentosa. (1980) (95)
- A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. (2009) (93)
- Vitamin A supplementation for retinitis pigmentosa. (1993) (91)
- Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. (2008) (90)
- Progressive cone degeneration, dominantly inherited. (1968) (89)
- Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. (1978) (89)
- Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa. (1988) (88)
- Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (1994) (87)
- Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. (2000) (87)
- Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity. (1995) (86)
- Retinal photoreceptor dystrophies: LI. Edward Jackson Memorial Lecture. (1995) (83)
- Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration. (1979) (82)
- Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. (2010) (80)
- Retinal degeneration in cats fed casein. III. Taurine deficiency and ERG amplitudes. (1977) (79)
- Safety of <7500 RE (<25000 IU) vitamin A daily in adults with retinitis pigmentosa. (1999) (78)
- Diurnal rhythm in the human rod ERG. (1984) (77)
- Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy (2005) (77)
- Color plates to help identify patients with blue cone monochromatism. (1983) (76)
- Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. (1995) (75)
- A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (2004) (73)
- Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (2000) (73)
- Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse. (2002) (72)
- Light deprivation for early retinitis pigmentosa. A hypothesis. (1971) (71)
- ABCR Gene and Age-Related Macular Degeneration (1998) (70)
- Temporal aspects of the electroretinogram in sector retinitis pigmentosa. (1971) (69)
- Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). (2001) (69)
- Search for Recessive Retinitis Pigmentosa Genes Using Microarray Analysis of RNA Expression Levels in Lymphoblasts (2006) (68)
- ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A. (2012) (68)
- The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. (1996) (66)
- Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. (2002) (65)
- Plasma docosahexaenoic acid levels in various genetic forms of retinitis pigmentosa. (1992) (65)
- Genotype-phenotype correlations in Bardet-Biedl syndrome. (2010) (64)
- Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. (2002) (63)
- Nutrition and Retinal Degenerations (2000) (63)
- Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. (1988) (61)
- Hyperopia and neovascularization in age-related macular degeneration. (1993) (60)
- Photoreceptor Rescue by an Abbreviated Human RPGR Gene in a Murine Model of X-linked Retinitis Pigmentosa (2015) (60)
- Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine. (1976) (58)
- Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. (2011) (57)
- Dominant retinitis pigmentosa with reduced penetrance. Further studies of the electroretinogram. (1979) (55)
- Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. (1990) (55)
- Red blood cell membrane phosphatidylethanolamine fatty acid content in various forms of retinitis pigmentosa. (1995) (55)
- Visual Function in Carriers of X-Linked Retinitis Pigmentosa. (2015) (52)
- The Stiles-Crawford effect in retinitis pigmentosa. (1982) (52)
- Cone and rod responses in a family with recessively inherited retinitis pigmentosa. (1970) (51)
- Electroretinographic findings in selected pedigrees with choroideremia. (1986) (50)
- A single‐base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance (2009) (50)
- Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype–Genotype Correlations, and Neuropathology (2013) (50)
- Light deprivation and retinitis pigmentosa (1980) (49)
- Blue and green cone mechanisms in retinitis pigmentosa. (1977) (49)
- Mutations in the RPE 65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis (1998) (48)
- Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa (2011) (48)
- Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype. (1986) (47)
- Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram (2007) (47)
- Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Comparison with retinitis pigmentosa. (1990) (47)
- Melanoma-associated retinopathy and recurrent exudative retinal detachments in a patient with choroidal melanoma. (2001) (45)
- Taurine uptake in isolated retinas of normal rats and rats with hereditary retinal degeneration. (1978) (45)
- Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts. (2008) (44)
- Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina. (1978) (44)
- Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation. (1993) (44)
- Cone electroretinograms in congenital nyctalopia with myopia. (1974) (43)
- Cone and rod responses in nutritionally induced retinal degeneration in the cat. (1973) (42)
- Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance. (1999) (42)
- Focal cone electroretinograms in dominant retinitis pigmentosa with reduced penetrance. (1978) (42)
- Lymphoma-associated retinopathy. (2002) (41)
- Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. (1991) (40)
- A full-field system for clinical electroretinography. (1974) (40)
- Cone and rod function in vitamin A deficiency with chronic alcoholism and in retinitis pigmentosa. (1977) (39)
- Novel frameshift mutations in CRX associated with Leber congenital amaurosis (2001) (39)
- Cone Dominance of the Human Early Receptor Potential (1969) (38)
- Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. (2002) (36)
- Ultrastructural findings in an autopsy eye from a patient with Usher's syndrome type II. (1992) (36)
- Rod and cone function in the Nougaret form of stationary night blindness. (1998) (36)
- Retinitis pigmentosa and allied diseases: applications of electroretinographic testing (1981) (35)
- Experimental and therapeutic aspects of photic damage to the retina. (1973) (34)
- Foveal cone electroretinograms in patients with central visual loss of unexplained etiology. (1992) (34)
- Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations (2013) (34)
- Disease course of patients with pericentral retinitis pigmentosa. (2002) (33)
- Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. (2006) (32)
- Visual acuity and cone spatial density in retinitis pigmentosa. (1983) (32)
- Retinal histopathology of a carrier of X-chromosome-linked retinitis pigmentosa. (1985) (32)
- Retinitis Pigmentosa and Allied Diseases (2008) (31)
- Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. (2005) (31)
- Electroretinograms in carriers of blue cone monochromatism. (1986) (31)
- Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. (1994) (30)
- The risk of pedestrian collisions with peripheral visual field loss (2016) (29)
- NUTRITION AND RETINAL DEGENERATIONS: Vitamin A, Taurine, Ornithine, and Phytanic Acid (1982) (29)
- Natural course of ocular function in pigmented paravenous retinochoroidal atrophy. (2004) (29)
- Treatable forms of retinitis pigmentosa associated with systemic neurological disorders. (2001) (29)
- Neural retinal cell transplantation: ideal versus reality. (1999) (29)
- Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. (2002) (28)
- Topical corticosteroids and fungal keratitis. (1967) (28)
- Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. (1985) (28)
- Clinical and histopathologic findings in clumped pigmentary retinal degeneration. (1996) (28)
- Evaluation of patients with retinitis pigmentosa receiving electric stimulation, ozonated blood, and ocular surgery in Cuba. (1996) (28)
- A night vision pocketscope for patients with retinitis pigmentosa. Design considerations. (1974) (27)
- Diurnal rhythm in the human rod ERG. Relationship to cyclic lighting. (1986) (27)
- Lack of scientific rationale for use of valproic acid for retinitis pigmentosa (2010) (27)
- Effects of IBMX on the ERG of the isolated perfused cat eye (1987) (27)
- Electroretinogram (ERG) sensitivity and phagosome frequency in the normal pigmented rat. (1986) (26)
- Extended wearing trial of Trifield lens device for ‘tunnel vision’ (2010) (26)
- Association of Vitamin A Supplementation With Disease Course in Children With Retinitis Pigmentosa (2018) (26)
- Rod-cone interaction in the distal human retina. (1981) (26)
- Histopathologic study of an unusual form of retinitis pigmentosa. (1982) (25)
- Rod and cone contributions to the human early receptor potential. (1970) (25)
- Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation. (1995) (25)
- Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets. (1981) (25)
- Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase. (1991) (25)
- Recovery of the human early receptor potential during dark adaptation in hereditary retinal disease. (1970) (23)
- A night vision device as an aid for patients with retinitis pigmentosa. (1973) (23)
- Foveal cone electroretinograms in strabismic amblyopia: comparison with juvenile macular degeneration, macular scars, and optic atrophy. (1979) (23)
- A two year trial of low protein, low arginine diets or vitamin B6 for patients with gyrate atrophy. (1982) (23)
- Temporal aspects of the dark-adapted cone a-wave in retinitis pigmentosa. (1981) (22)
- Advances in night vision technology. A pocketscope for patients with retinitis pigmentosa. (1973) (22)
- Fluorescein angiography of hereditary retinal degenerations. (1969) (22)
- Visual field defects in giant suprasellar aneurysms of internal carotid. Report of three cases. (1966) (21)
- Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (1998) (21)
- Acuity recovery and cone pigment regeneration after a bleach in patients with retinitis pigmentosa and rhodopsin mutations. (1999) (21)
- Retinal degeneration in cats fed casein. IV. The early receptor potential. (1981) (21)
- Targeted exon sequencing in Usher syndrome type I. (2014) (21)
- Relapsing polychondritis, rheumatoid arthritis and blindness. (1968) (21)
- Postmortem metabolic capacity of photoreceptor cells in human and rat retinas. (1980) (20)
- Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases (2005) (20)
- Electroretinographic findings in retinitis pigmentosa. (1987) (20)
- Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. (2007) (20)
- Isolation of focal rod electroretinograms from the dark-adapted human eye. (1996) (19)
- Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. (2004) (19)
- Full-field electroretinograms in miniature poodles with progressive rod-cone degeneration. (1986) (19)
- Cone mechanisms in the electroretinogram of the cynomolgus monkey. (1974) (19)
- Hereditary Retinal Diseases: Classification with the Full-Field Electroretinogram (1977) (18)
- Retinal degeneration in the taurine-deficient cat. (1976) (18)
- Visually evoked response testing with a stimulator-ophthalmoscope. Macular scars, hereditary macular degenerations, and retinitis pigmentosa. (1977) (18)
- NMNAT 1 Mutations Cause Leber Congenital Amaurosis (2013) (18)
- Diagnosis and treatment of gyrate atrophy. (1993) (18)
- Vitamin A and interstitial retinol-binding protein in an eye with recessive retinitis pigmentosa. (1985) (18)
- The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa. (2010) (17)
- The early receptor potential in sex-linked retinitis pigmentosa. (1970) (17)
- Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry (2014) (17)
- Histopathologic and immunohistochemical study of dominant cone degeneration. (1998) (16)
- Acute toxic effects of chloroquine on the cat retina: ultrastructural changes. (1971) (15)
- Effects of IBMX on the rod ERG of the isolated perfused cat eye: Antagonism with light, calcium orl-cis-diltiazem (1991) (15)
- Histopathologic and immunohistochemical study of an autopsy eye with X-linked cone degeneration. (1998) (15)
- Acute toxic effects of chloroquine on the cat retina. (1970) (15)
- Identification of proteins in retinas and IPM from eyes with retinitis pigmentosa. (1988) (15)
- Foveal and parafoveal cone electroretinograms in juvenile macular degeneration (1983) (15)
- Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. (1997) (15)
- Hydroxychloroquine retinopathy. (1991) (15)
- Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. (2000) (14)
- Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa (2014) (14)
- Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa (2014) (13)
- Retinal degenerations: planning for the future. (2008) (13)
- Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. (1990) (13)
- Electroretinograms in English setters with neuronal ceroid lipofuscinosis. (1980) (13)
- Early receptor potential in dominantly inherited retinitis pigmentosa. (1970) (13)
- Electroretinograms in microcephaly with chorioretinal degeneration. (1990) (13)
- Blue cone function in the retina of the cat (1976) (12)
- ERG abnormalities in relation to histopathologic findings in vitiligo mutant mice. (1997) (12)
- Rod ERG diurnal rhythm in some patients with dominant retinitis pigmentosa. (1988) (12)
- Novel Mutations in the PRPC8 Gene, Encoding a Pre-mRNA Splicing Factor in Patients with Autosomal Dominant Retinitis Pigmentosa (2002) (11)
- Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase. (2011) (10)
- Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA. (1990) (10)
- Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect. (1990) (10)
- Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. (2003) (10)
- Diurnal rhythm in the electroretinogram of the Royal College of Surgeons (RCS) pigmented rat. (1988) (9)
- Retinitis pigmentosa without pigment. (1969) (9)
- Reduction of hyperornithinemia with a low protein, low arginine diet and pyridoxine in patients with a deficiency of ornithine-ketoacid transaminase (OKT) activity and gyrate atrophy of the choroid and retina. (1981) (9)
- Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. (1995) (9)
- Disease course of patients with unilateral pigmentary retinopathy. (2011) (9)
- Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. (1997) (8)
- Retinitis pigmentosa and allied retinal diseases: electrophysiologic findings. (1976) (8)
- A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (2006) (8)
- Malignant melanoma, retinal hole, and retinal detachment. (1967) (8)
- Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. (1988) (8)
- Visual Function Testing: Clinical Correlations (1994) (7)
- Progressive hydroxychloroquine toxicity mimicking low‐tension glaucoma after discontinuation of the drug (2010) (7)
- Disease Course of Patients With Autosomal Recessive Retinitis Pigmentosa Due to USH2A Gene Mutations (2008) (6)
- TREATMENT OF EXPERIMENTAL FUNGAL KERATITIS. (1965) (6)
- A Single-Base Substitution Within an Intronic Repetitive Element in PRPF31 Causes Dominant Retinitis Pigmentosa With Reduced Penetrance (2009) (6)
- Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation (2009) (6)
- The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edema. (2014) (6)
- Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram (Opthalmic Genetics (2007) 28, (135-142)) (2007) (5)
- Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 ( RP 1 ) (2001) (5)
- USH3A mutations in patients with a prior diagnosis of Usher syndrome type I, Usher syndrome type II, and nonsyndromic recessive retinitis pigmentosa (2004) (5)
- Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. (2004) (5)
- Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. (2006) (4)
- Data-driven longitudinal characterization of neonatal health and morbidity (2022) (4)
- Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. (1994) (4)
- Two families from New England with usher syndrome type IC with distinct haplotypes. (2001) (4)
- Static Fundus Perimetry in Amblyopia: Comparison with Juvenile Macular Degeneration (1983) (4)
- No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q. (1999) (3)
- Screening of 51 Newly Identified USH2A Exons Among Patients With Usher Syndrome Type II and Non–Syndromic Recessive Retinitis Pigmentosa (2005) (3)
- Opsin phosphorylation in retinas from autopsy eyes with retinitis pigmentosa. (1990) (3)
- 762 GENETIC COMPLEMENTATION ANALYSIS IN FIBROBLASTS FROM GYRATE ATROPHY (GA) AND THE SYNDROME OF HYPERORNITHINEMIA, HYPERAMMONEMIA AND HOMOCITRULLINURIA (HHH) (1981) (3)
- Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome (1996) (3)
- Defects in RGS9 or its anchor protein R9AP in patients with bradyopsia, a novel form of retinal dysfunction (2004) (2)
- Retinitis pigmentosa, the electroretinogram, and Mendel's laws. (1973) (2)
- EXTENDED WEARING TRIAL OF TRIFIELD PRISM VISUAL AID FOR TUNNEL VISION AMONG PATIENTS WITH RETINITIS PIGMENTOSA OR CHOROIDEREMIA (2004) (2)
- Rod and Cone Opsin Mislocalization in an Autopsy Eye From a Female Carrier of X–linked RP With a Gly436Asp Mutation in the RPGR Gene (2005) (2)
- Retinitis Pigmentosa Due to Dominant Rhodopsin Mutations: Rates of Progression Correlate With Location of Affected Amino Acid (2002) (2)
- Generalized Defects In Spliceosome Composition And Pre-mRNA Splicing Are Associated With Retinitis Pigmentosa In Humans (2011) (2)
- Shared Mutations in NR2E3 In Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Clumped Pigmentary Retinal Degeneration (2002) (2)
- Residual Peripheral Fields in RP and the Risk for Pedestrian Collisions (2015) (2)
- Identification Of Novel Mutations In The PRPF31 Gene (RP11) In Patients With Autosomal Dominant Retinitis Pigmentosa With Reduced Penetrance (2002) (2)
- Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa (2007) (2)
- Disease Progression in Patients with X–Linked Retinitis Pigmentosa Due to RPGR Gene Mutations (2006) (2)
- Molecular characterization of SNRNP200 mutations causing autosomal dominant retinitis pigmentosa with incomplete penetrance and phenotypic variability (2014) (1)
- Mutations of the {beta}-subunit of human NAD-specific isocitrate dehydrogenase in patients with Retinitis Pigmentosa (2008) (1)
- Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations (2014) (1)
- Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa (2011) (1)
- cGMP-gated channel in autosomal recessive retiiitis pigmentosa (2005) (1)
- Letter From the DSMC Regarding a Clinical Trial of Lutein in Patients With Retinitis Pigmentosa—Reply (2011) (1)
- Disease Expression in Patients with USH2A Mutations (2004) (1)
- All-Exon Screen of the Ush2a Gene in Recessive Nonsyndromic Retinitis Pigmentosa and Usher Syndrome Type II (2003) (1)
- Next Generation Sequencing Of Pooled DNA From A Large Cohort Of Patients Reveals New SNRNP200 Mutations Associated With Retinitis Pigmentosa (2011) (1)
- FAM161A Mutations In Patients With Early-onset Retinitis Pigmentosa In The United States (2012) (1)
- Abnormal full field cone electroretinograms in central areolar choroidal dystrophy (1990) (1)
- ω-3 Intake in patients with retinitis pigmentosa receiving vitamin A-Reply. (2013) (1)
- Macular Pseudoholes in Retinitis Pigmentosa (2007) (0)
- Mutation Screening Of The FAM161A Gene (RP28) In An Autosomal Recessive Retinitis Pigmentosa Cohort (2011) (0)
- Identification of a Homozygous Missense Change in IRBP in a Consanguineous Family With Autosomal Recessive Retinitis Pigmentosa (2008) (0)
- Diurnal rhythm in rod sensitivity of light-entrained human subjects (A) (1982) (0)
- Ocular Function And Macular Pigment Density In Non-syndromic Retinitis Pigmentosa (2002) (0)
- Long-term Vision Changes in Carriers of X-linked Retinitis Pigmentosa (2014) (0)
- Evaluation of the ELOVL 4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (0)
- Mutation Survey of the IMPDH1 Gene in Patients With Autosomal Dominant Retinitis Pigmentosa and Review of the Clinical Findings Associated With IMPDH1 Mutations (2003) (0)
- Neural retinal cell transplantation: Authors’ reply (1999) (0)
- Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype–Genotype Correlations, and Neuropathology (2012) (0)
- New Techniques for Evaluating Pediatric Retinal Disease: Molecular Genetics (1992) (0)
- The Relationship of Cystoid Macular Edema to Urinary Iodine Concentration in Retinitis Pigmentosa (2014) (0)
- Correlations Between Visual Field Size and Electroretinogram Amplitude for Patients With Retinitis Pigmentosa (2005) (0)
- Mutation Screening of the Phosducin Gene in Patients With Retinitis Pigmentosa and Other Hereditary Retinal Diseases (2003) (0)
- Screen of the IMPDH 1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation , Asp 226 Asn (2005) (0)
- Mutations in the GRM6 Gene Encoding the Mglur6 Receptor in Patients With Autosomal Recessive Night Blindness and Abnormal Cone ERG on Responses (2005) (0)
- Cone pigment regeneration, retinitis pigmentosa and light deprivation (1972) (0)
- A SCREEN FOR MUTATIONS OF THE IMPG1 GENE IN PATIENTS WITH RETINITIS PIGMENTOSA (2004) (0)
- Mutation Survey of the RP2 and RPGR Genes (Including ORF15) and Evidence for Genotype-Phenotype Correlations (2003) (0)
- Histologic Study of Dominant Retinitis Pigmentosa RP13: Comparison with Rhodopsin Pro23His,Cys110Arg, and Glu181Lys (2002) (0)
- Mutation Screening of the USH3A Gene in Patients with Retinitis Pigmentosa with Partial Hearing Loss (2002) (0)
- Whole Genome Analysis Of 16 Unrelated Patients With Autosomal Recessive Retinitis Pigmentosa Reveals Novel Single-Base And Large Structural Genomic Mutations (2012) (0)
- COMMENTS ON RETINITIS PIGMENTOSA-Reply (1969) (0)
- Hereditary and nutritionally induced retinal degenerations: electrophysiologic and biochemical studies. (1976) (0)
- A Screen for Mutations in the GNB1 Gene in Patients With Autosomal Dominant Retinitis Pigmentosa (2006) (0)
- Mutations of the β‐subunit of human NAD‐specific isocitrate dehydrogenase in patients with Retinitis Pigmentosa (2008) (0)
- Mutation Screening of the ESRRB Gene in Patients With Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa (2003) (0)
- Treatment Trial for Retinitis Pigmentosa (1997) (0)
- Novel frameshift mutations in CRX associated with de novo and autosomal dominant Leber Congenital Amaurosis (2021) (0)
- Screen for Mutations the Lecithin Retinol Acyltransferase (LRAT) Gene in Patients With Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa (2006) (0)
- Retina, The Journal of Retinal and Vitreous Diseases 2017 Scientific Reviewers. (2018) (0)
- Mutations In The USH2A Gene Are A Frequent Cause Of Recessive Nonsyndromic Retinitis Pigmentosa As Well As Usher Syndrome Type II (2002) (0)
- Analysis of Exons Specific to the Go1 Transcript of the Bipolar G–Protein in Patients With Congenital Stationary Night Blindness (2005) (0)
- Genetic Heterogeneity Among Patients with Pericentral Retinitis Pigmentosa (2013) (0)
- Histologic Study of Autopsy Eyes From a Male With X-Linked Retinitis Pigmentosa and an RPGR Gly436Asp Mutation (2009) (0)
- Friendenwald award and lecture. (1987) (0)
- Night Vision Aid (1983) (0)
- Macular Cysts in Retinitis Pigmentosa: Prevalence, Genetic Predisposition, and Clinical Significance (2007) (0)
- Evaluation of the arrestin gene in patients with retinitis pigmentosa or an allied disease (1994) (0)
- A Screen for Mutations of the SLC6A6 Gene in Patients with Retinitis Pigmentosa and Leber Congenital Amaurosis (2003) (0)
- Search for mutations in the peropsin gene, an RPE–specific rhodopsin homolog, in patients with inherited retinal degeneration (2004) (0)
- Comprehensive genetic analysis of an Usher I patient cohort (2013) (0)
- Histopathology of the Retina in an Eye Donation From a Patient With an RPE65 Mutation (2010) (0)
- Screen for mutations in the human recoverin gene in patients with retinitis pigmentosa or an allied disease (1996) (0)
- A Defect in the Krebs Cycle in Retinitis Pigmentosa (2008) (0)
- A Screen for Mutations of the Aipl1 Gene in Patients With Supernormal Scotopic Erg B–Wave (2005) (0)
- Uniparental Primary Heterodisomy with Bitelomeric Isodisomyh of Chromosome 1 in a Patient with Onsyndromic Retinitis Pigmentosa and a Mutation in the Usher Syndrome Gene USH2A (2002) (0)
- A 353-bp Alu insertion in MAK is a prevalent cause of recessive retinitis pigmentosa in North American Jewish patients (2013) (0)
- Meta–Analysis of Histopathologic–Genotype Correlations in Human Retinal Degeneration (2004) (0)
- Identification of Genetic Defects Causing Recessive Retinal Degeneration Aided by Homozygosity Mapping in Consanguineous Families (2008) (0)
- Replacement Gene Therapy in a Mouse Model of X-Linked Retinitis Pigmentosa Lacking RPGR (2008) (0)
- Mutation Spectrum of the CHM Gene in Patients With Choroideremia (2007) (0)
- Splicing Defect attheOrnithine Aminotransferase (OAT)Locus inGyrateAtrophy (1990) (0)
- Histologic Study of Autopsy Eyes From a Male With X-Linked Stationary Night Blindness With Myopia and a Novel Mutation in the NYX Gene, Leu202Pro (2010) (0)
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What Schools Are Affiliated With Eliot L. Berson?
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