Thaddeus P. Dryja
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Philosophy Biology
Thaddeus P. Dryja's Degrees
- Doctorate Medicine Harvard University
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(Suggest an Edit or Addition)Thaddeus P. Dryja'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 human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma (1986) (2880)
- Expression of recessive alleles by chromosomal mechanisms in retinoblastoma (1983) (1954)
- 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)
- Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa (1993) (600)
- Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. (1990) (557)
- Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. (1991) (491)
- 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)
- A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa (1992) (416)
- Point mutational inactivation of the retinoblastoma antioncogene. (1989) (397)
- 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)
- Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. (2002) (291)
- Null RPGRIP1 alleles in patients with Leber congenital amaurosis. (2001) (285)
- Homozygosity of chromosome 13 in retinoblastoma. (1984) (279)
- Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. (1989) (279)
- Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999) (276)
- Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. (1995) (273)
- Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness (1997) (252)
- 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)
- Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. (1989) (241)
- Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma (1983) (238)
- 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)
- Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. (1996) (230)
- Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. (1986) (219)
- Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene (1991) (215)
- A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens (1993) (206)
- Parental origin of mutations of the retinoblastoma gene (1989) (204)
- 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)
- Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness (1996) (195)
- Oncogenes and tumor-suppressing genes. (1988) (195)
- Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes. (1999) (194)
- 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)
- Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. (1998) (180)
- Molecular genetics of retinitis pigmentosa. (1995) (174)
- Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. (1998) (171)
- Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE) (2001) (169)
- Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. (1989) (168)
- Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. (2000) (161)
- Complete genomic sequence of the human retinoblastoma susceptibility gene. (1993) (161)
- Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. (2003) (157)
- Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. (1991) (157)
- Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle (2008) (153)
- Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. (1997) (151)
- 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)
- The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. (1991) (144)
- Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations (1986) (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)
- 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)
- Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. (1989) (127)
- Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. (2007) (124)
- Barrier to Autointegration Factor Interacts with the Cone-Rod Homeobox and Represses Its Transactivation Function* (2002) (124)
- 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)
- Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. (1999) (117)
- Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. (1986) (112)
- Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. (1989) (110)
- Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. (2004) (109)
- Variation in retinitis pigmentosa‐11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations (2006) (109)
- 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)
- Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. (1984) (99)
- Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. (2008) (98)
- Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX (2001) (97)
- Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. (2004) (96)
- Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. (2001) (94)
- A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. (2009) (93)
- Molecular etiology of low-penetrance retinoblastoma in two pedigrees. (1993) (90)
- Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. (2008) (90)
- Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. (2000) (87)
- Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells. (1990) (87)
- Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (1994) (87)
- Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity. (1995) (86)
- Rhodopsin and autosomal dominant retinitis pigmentosa (1992) (80)
- Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy (2005) (77)
- Lacrimal Gland Tumors: A Clinicopathological Analysis of 160 Cases (1982) (76)
- Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. (1995) (75)
- Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (2000) (73)
- A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (2004) (73)
- ABCR Gene and Age-Related Macular Degeneration (1998) (70)
- 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)
- 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)
- Reliability of the mouse model of choroidal neovascularization induced by laser photocoagulation. (2014) (64)
- Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. (2002) (63)
- Histopathological classification of 272 primary epithelial tumors of the lacrimal gland. (1992) (61)
- Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene (1994) (59)
- Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. (2004) (58)
- Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13. (1986) (57)
- Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium. (1978) (57)
- 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)
- Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma. (1986) (55)
- Gene-based approach to human gene-phenotype correlations. (1997) (52)
- Histopathology of Explanted Collar Button Keratoprostheses: A Clinicopathologic Correlation (2003) (52)
- Understanding the etiology of Stargardt's disease. (2002) (51)
- Increased incidence of choroidal malignant melanoma occurring in a single population of chemical workers. (1980) (51)
- Mutations in the RPE 65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis (1998) (48)
- Bilateral Diffuse Uveal Melanocytic Proliferation Associated With Extraocular Cancers: Review of a Process Particularly Associated With Gynecologic Cancers (2001) (47)
- Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram (2007) (47)
- Sweat Gland Tumors in the Eyelids: A Clinicopathological Analysis of 55 Cases (1982) (46)
- Ophthalmic Molecular Genetics (2004) (44)
- Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. (1994) (44)
- Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. (2004) (43)
- Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma. (2018) (43)
- Detection of the XbaI RFLP within the retinoblastoma locus by PCR (1990) (43)
- Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration (2008) (43)
- Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance. (1999) (42)
- Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. (1991) (40)
- Novel frameshift mutations in CRX associated with Leber congenital amaurosis (2001) (39)
- Long-acting protein drugs for the treatment of ocular diseases (2017) (39)
- Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. (2002) (36)
- Rod and cone function in the Nougaret form of stationary night blindness. (1998) (36)
- Cutaneous Benign Mixed Tumor (Chondroid Syringoma) of the Eyelid: Clinical Presentation and Management (2004) (36)
- Deficiencies in sight with the candidate gene approach (1990) (36)
- Genetic sequences that predispose to retinoblastoma and osteosarcoma. (1986) (35)
- Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. (2005) (31)
- Glial cell component in retinoblastoma. (1985) (31)
- A silencer element in the retinoblastoma tumor-suppressor gene. (1994) (31)
- Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma. (2003) (30)
- Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. (1994) (30)
- Molecular and cytologic analysis of DNA amplification in retinoblastoma. (1985) (29)
- Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium. (1979) (29)
- Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. (1985) (28)
- Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. (2002) (28)
- Epidemiological Investigation of Increased Incidence of Choroidal Melanoma in a Single Population of Chemical Workers (1980) (27)
- Organometallic conformational equilibria : XVII. The orientation of the π-allyl ligand in π-cyclopentadienyl and π-indenyl complexes of iron and ruthenium☆ (1974) (26)
- Characterization and chromosomal localization of the gene for human rhodopsin kinase. (1996) (25)
- Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation. (1995) (25)
- Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase. (1991) (25)
- AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice (2015) (24)
- Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene (2007) (24)
- Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. (1995) (24)
- Predicting the risk of hereditary retinoblastoma. (1988) (23)
- The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene (2019) (23)
- Adenocarcinoma Arising from the Epithelium of the Iris and Ciliary Body (1980) (22)
- Linkage of genes for human esterase D and hereditary retinoblastoma. (1984) (22)
- Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. (1992) (22)
- Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (1998) (21)
- Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases (2005) (20)
- Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. (2007) (20)
- A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases (2019) (19)
- Accuracy of detection of the retinoblastoma gene by esterase D linkage. (1985) (19)
- Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1 (2017) (18)
- Retrieval of human DNA from rodent-human genomic libraries by a recombination process. (1983) (17)
- Norrie disease. Diagnosis of a simplex case by DNA analysis. (1996) (17)
- Ocular findings in spinocerebellar ataxia 7. (2002) (17)
- Diagnosis in a patient with fundus albipunctatus and atypical fundus changes (2009) (16)
- Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1β by Canakinumab or IL-17A by Secukinumab (2015) (16)
- Adenocarcinoma arising from the epithelium of the ciliary body. (1981) (16)
- Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene (2005) (16)
- Visual acuity development in tyrosinase negative oculocutaneous albinism (1984) (15)
- Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. (1997) (15)
- Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. (2000) (14)
- Lack of adrenergic influence on the pigmentation of iris nevus cells. (1980) (13)
- Melanocytoma of the optic nerve associated with sound-induced phosphenes. (2006) (12)
- Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration (2021) (12)
- ISOLATION OF DNA FRAGMENTS FROM CHROMOSOME 13 (1983) (12)
- High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome. (2002) (12)
- Novel Mutations in the PRPC8 Gene, Encoding a Pre-mRNA Splicing Factor in Patients with Autosomal Dominant Retinitis Pigmentosa (2002) (11)
- Induction of Ocular Complement Activation by Inflammatory Stimuli and Intraocular Inhibition of Complement Factor D in Animal Models. (2018) (10)
- Retinitis pigmentosa and the rhodopsin gene. (1993) (10)
- Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA. (1990) (10)
- Chromosome 13 restriction fragment length polymorphisms (2004) (10)
- A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility. (2017) (10)
- Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture. (1982) (10)
- Lens regeneration in children (2018) (9)
- Low frequency of oncogenic mutations in the core promoter region of the RB1 gene (1999) (9)
- Identification and significance of multinucleate tumor cells in retinoblastoma. (1989) (9)
- Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. (1995) (9)
- Presence of cysteinyldopa in the mature bovine eye. (1977) (9)
- Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open‐Angle Glaucoma (2019) (8)
- Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. (1997) (8)
- A "negative" temporal artery biopsy, positive for arteritis. (2004) (8)
- Early Insight Into Neovascular Age-Related Macular Degeneration. (2016) (8)
- A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. (2006) (8)
- PCR detection of the Tth 111 I RFLP at the RB locus. (1990) (7)
- Solitary Myofibroma of the Sclera (2007) (7)
- Low incidence of deletion of the esterase D locus in retinoblastoma patients (2004) (7)
- Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. (2006) (7)
- Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections. (2018) (6)
- [Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]. (1998) (6)
- Disease Course of Patients With Autosomal Recessive Retinitis Pigmentosa Due to USH2A Gene Mutations (2008) (6)
- A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma (2019) (6)
- Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation (2009) (6)
- Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. (2004) (5)
- Recent studies of the retinoblastoma gene. What it means to the ophthalmologist. (1988) (5)
- Generation and characterization of CLG561: a fully-human, anti-properdin Fab for the treatment of age-related macular degeneration (2016) (5)
- Light stimulation of iris tyrosinase in vivo. (1980) (5)
- 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)
- Genetics of retinoblastoma (1989) (4)
- Isolated orbital amyloidosis causing internal and external ophthalmoplegia. (2019) (4)
- Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. (2006) (4)
- Two families from New England with usher syndrome type IC with distinct haplotypes. (2001) (4)
- Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. (1994) (4)
- Response of choroidal leiomyoma to treatment with proton beam radiation. (2010) (4)
- [Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members]. (1998) (4)
- Unbiased transmission of mutant alleles at the human retinoblastoma locus (1994) (4)
- 605. Residual Cesium Chloride in AAV Vectors Purified by CsCl Gradient Centrifugation Does Not Cause Obvious Inflammation or Retinal Degeneration in C57Bl6/J Mice Following Subretinal Injection (2015) (3)
- Screening of 51 Newly Identified USH2A Exons Among Patients With Usher Syndrome Type II and Non–Syndromic Recessive Retinitis Pigmentosa (2005) (3)
- 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)
- Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration (2022) (2)
- Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa (2007) (2)
- AMD-associated SNPs in the ARMS2/HTRA1 locus influence local gene expression in multiple human tissues (2016) (2)
- Defects in RGS9 or its anchor protein R9AP in patients with bradyopsia, a novel form of retinal dysfunction (2004) (2)
- Shared Mutations in NR2E3 In Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Clumped Pigmentary Retinal Degeneration (2002) (2)
- Complement Proteins in the Retina in Cancer-Associated Retinopathy. (2019) (2)
- Melanocytic tumor of the anterior uvea. (1978) (2)
- Identification Of Novel Mutations In The PRPF31 Gene (RP11) In Patients With Autosomal Dominant Retinitis Pigmentosa With Reduced Penetrance (2002) (2)
- Retinitis Pigmentosa Due to Dominant Rhodopsin Mutations: Rates of Progression Correlate With Location of Affected Amino Acid (2002) (2)
- Erratum: Retinitis pigmentosa and allied diseases: Numerous diseases, genes and inheritance patterns (Human Molecular Genetics (2002) vol. 11 (1219-1227)) (2003) (2)
- Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization (2004) (2)
- Age at menarche and exposure to light. (1977) (2)
- Conjunctival Non-Caseating Granulomas in a Human Immunodeficiency Virus (HIV) Positive Patient Attributed to Sarcoidosis (2006) (2)
- All-Exon Screen of the Ush2a Gene in Recessive Nonsyndromic Retinitis Pigmentosa and Usher Syndrome Type II (2003) (1)
- Overlapping immunohistochemical features of adenocarcinoma of the nonpigmented ciliary body epithelium and renal cell carcinoma. (2021) (1)
- Fundamentals of Genetics (2008) (1)
- Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 2-2002- a 58-year-old woman with unilateral loss of vision and postmenopausal bleeding. (2002) (1)
- Analysis of the C–Reactive Protein Gene in Patients With Neovascular Age–Related Macular Degeneration (2006) (1)
- Disease Expression in Patients with USH2A Mutations (2004) (1)
- Mutations of the {beta}-subunit of human NAD-specific isocitrate dehydrogenase in patients with Retinitis Pigmentosa (2008) (1)
- Correction for Bernards et al., Structure and Expression of the Murine Retinoblastoma Gene and Characterization of its Encoded Protein, PNAS 1989 86:6474-6478 (2006) (1)
- Clinical Pharmacogenetic Analysis of Patients With Neovascular AMD Treated With Ranibizumab in the EXCITE Trial (2009) (1)
- The best excitement in age-related macular degeneration. (1999) (1)
- An Open-Label Proof-Of Concept Study to Assess the Efficacy of AIN457 in Patients With Noninfectious Uveitis (2010) (1)
- cGMP-gated channel in autosomal recessive retiiitis pigmentosa (2005) (1)
- Low-Penetrance of RB-1 Gene Mutation in Familial Retinoblastoma 135 (1996) (0)
- Immunohistochemical Profiles of Sebaceous, Squamous and Basal Cell Carcinoma using Antibodies to Epithelial Membrane Antigen (EMA) and Anti-cytokeratin (CAM 5.2) (2003) (0)
- A mouse model to assess gene therapy for RLBP1-associated retinal dystrophy (2014) (0)
- Evaluation of the ELOVL 4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (0)
- HTRA1 Genotypes Associated With Risk of Neovascular Age-Related Macular Degeneration Independent of CFH and Smoking (2007) (0)
- DISTRIBUTION OF APOE ALLELES AMONG PATIENTS WITH NEOVASCULAR AGE–RELATED MACULAR DEGENERATION AND THEIR UNAFFECTED SIBLINGS (2004) (0)
- Analysis of Exons Specific to the Go1 Transcript of the Bipolar G–Protein in Patients With Congenital Stationary Night Blindness (2005) (0)
- A TaqI RFLP identified at the retinoblastoma locus on chromosome 13. (1988) (0)
- Novel frameshift mutations in CRX associated with de novo and autosomal dominant Leber Congenital Amaurosis (2021) (0)
- A Screen for Mutations in the GNB1 Gene in Patients With Autosomal Dominant Retinitis Pigmentosa (2006) (0)
- Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements. (2005) (0)
- Light stimulation of iris tyrosinase in vivo. [Rabbits] (1980) (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)
- Mutation Survey of the RP2 and RPGR Genes (Including ORF15) and Evidence for Genotype-Phenotype Correlations (2003) (0)
- Human retinoblastoma polypeptide, its antibody its composition and its detection (1996) (0)
- Analysis of the 1q24-q41 Region and the Candidate Gene RGS13 in Sibling Pairs Extremely Discordant for Neovascular Age-Related Macular Degeneration (2007) (0)
- Hypertension is a Risk Factor for Neovascular Age–Related Macular Degeneration (2006) (0)
- Mutation Screening of the USH3A Gene in Patients with Retinitis Pigmentosa with Partial Hearing Loss (2002) (0)
- Mutations of the β‐subunit of human NAD‐specific isocitrate dehydrogenase in patients with Retinitis Pigmentosa (2008) (0)
- Epidemiological Study of Extremely Discordant Sibpairs with Neovascular Age-related Macular Degeneration (2003) (0)
- Screen for Mutations the Lecithin Retinol Acyltransferase (LRAT) Gene in Patients With Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa (2006) (0)
- Missense mutation in the gene encoding the α subunit of rod transducin cosegregates with Nougaret's congenital night blindness (1996) (0)
- A Screen for Mutations of the SLC6A6 Gene in Patients with Retinitis Pigmentosa and Leber Congenital Amaurosis (2003) (0)
- Extremely Discordant Sibpair Study of the Neovascular Form of Age-Related Macular Degeneration (2002) (0)
- A Defect in the Krebs Cycle in Retinitis Pigmentosa (2008) (0)
- Molecular Genetics of Intraocular Tumors (2020) (0)
- ORGANOMETALLIC CONFORMATIONAL EQUILIBRIA PART 17, THE ORIENTATION OF THE PI-ALLYL LIGAND IN PI-CYCLOPENTADIENYL AND PI-INDENYL COMPLEXES OF IRON AND RUTHENIUM (1974) (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)
- Human DNA for the diagnosis of glioma retinae. (1987) (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)
- Human DNA for diagnosis of retinoblastoma. (1987) (0)
- Fundus Changes in Heterozygote Carriers in a Family with Novel Mutations in the RLBP1 (CRALBP) Gene (2002) (0)
- Melastatin Expression in Ocular Melanocytic Proliferations (2003) (0)
- Retinopathy Mutations Alter Phosphorylation and Transcriptional Regulatory Function of the Basic Motif–Leucine Zipper Protein Nrl (2006) (0)
- DNA testing for retinoblastoma. (1991) (0)
- Complement factor B is necessary for sub-RPE deposit formation in Efemp1R345W/R345W knock-in mice (2019) (0)
- Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma. (2018) (0)
- Independent Effects of CFH Genotype and Smoking History, but No Effect of APOE and ELOVL4 Genotype, on Risk for Neovascular Age–Related Macular Degeneration (2006) (0)
- Importance of genotyping in clinical trials of inherited and orphan retinal diseases. (2005) (0)
- Analysis of Polymorphisms in the Cart Gene (Cocaine and Amphetamine Receptor Transcript) as Risk Factors for Neovascular Age–Related Macular Degeneration (2005) (0)
- Rapid Mid–Stromal Corneal Calcification in Acanthamoeba keratitis (2006) (0)
- Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley. (2012) (0)
- A SCREEN FOR MUTATIONS OF THE IMPG1 GENE IN PATIENTS WITH RETINITIS PIGMENTOSA (2004) (0)
- Recombinant adeno-associated viral vector (rAAV)-mediated expression of RLBP1 (CRALBP) rescues the dark adaptation defect in a mouse model of RLBP1-associated retinal degeneration (2014) (0)
- Statin Use And Risk Of Neovascular Age–related Macular Degeneration (2004) (0)
- Histologic Study of Dominant Retinitis Pigmentosa RP13: Comparison with Rhodopsin Pro23His,Cys110Arg, and Glu181Lys (2002) (0)
- Extremely Discordant Sibpair Multivariate Analyses of Apoe Alleles, Smoking, Hypertension and Hypercholesterolemia Shows That Smoking Is the Strongest Risk Factor Associated With Neovascular Age–Related Macular Degneration (2005) (0)
- Novel CRALBP Mutations Associated With Retinitis Punctata Albescens: Further Evidence Of Genetic Heterogeneity (2002) (0)
- Analysis of the TCP–1 Gene (T–Complex Polypeptide–1) in Patients With Neovascular Age–Related Macular Degeneration (2006) (0)
- A protective association of selective serotonin reuptake inhibitors and a harmful association of calcium channel blockers for primary open-angle glaucoma identified in a healthcare database analysis (2017) (0)
- Mutation Screening of the ESRRB Gene in Patients With Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa (2003) (0)
- Microbiome Characterization in Retina and Choroid of Patients with Age-related Macular Degeneration (2016) (0)
- Impaired perception of moving high-contrast and low-contrast optotypes by bradyopsia patients lacking RGS9 (2006) (0)
- Mutations In The USH2A Gene Are A Frequent Cause Of Recessive Nonsyndromic Retinitis Pigmentosa As Well As Usher Syndrome Type II (2002) (0)
- Deletion of complement factor H is associated with accumulation of subretinal Iba-1-positive cells and retinal degeneration in aged mice (2017) (0)
- Anti-TNF-α treatment in skin burns (2018) (0)
- Evaluation of the arrestin gene in patients with retinitis pigmentosa or an allied disease (1994) (0)
- Search for mutations in the peropsin gene, an RPE–specific rhodopsin homolog, in patients with inherited retinal degeneration (2004) (0)
- Screen for mutations in the human recoverin gene in patients with retinitis pigmentosa or an allied disease (1996) (0)
- UVR Exposure and Risk of Neovascular Age-Related Macular Degeneration (2007) (0)
- Impaired Perception of Moving High– and Low–Contrast Optotypes by Bradyopsia Patients Lacking RGS9 (2006) (0)
- A Screen for Mutations of the Aipl1 Gene in Patients With Supernormal Scotopic Erg B–Wave (2005) (0)
- Meta–Analysis of Histopathologic–Genotype Correlations in Human Retinal Degeneration (2004) (0)
- Recurrent keratoconus: an analysis of breaks in Bowman’s layer in corneal grafts (2023) (0)
- Human DNA for the detection of Retinoblastoma (1987) (0)
- Evidence of complement involvement in cancer-associated retinopathy (CAR) (2018) (0)
- Department of Ophthalmology (hospital Based Faculty) Diagnosis and Management of Amblyopia Massachusetts Eye and Ear Infirmary (0)
- Mutation Screening of the Phosducin Gene in Patients With Retinitis Pigmentosa and Other Hereditary Retinal Diseases (2003) (0)
- Prostatic Adenocarcinoma Metastatic to the Anterior Uveal Tract (2003) (0)
- Assessment of Risk for Hereditary Retinoblastoma (2008) (0)
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What Schools Are Affiliated With Thaddeus P. Dryja?
Thaddeus P. Dryja is affiliated with the following schools:
