المؤلفون: Demirci, F Yesim K, Rigatti, Brian W, Mah, Tammy S, Gorin, Michael B

المصدر: American Journal of Ophthalmology. 141(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurodegenerative, Biotechnology, Genetics, Rare Diseases, Adolescent, Codon, Nonsense, Exons, Exudates and Transudates, Eye Proteins, Female, Genetic Diseases, X-Linked, Humans, Male, Open Reading Frames, Polymerase Chain Reaction, Retinal Vessels, Retinitis Pigmentosa, Telangiectasis, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3fc5w8zd

المؤلفون: Jakobsdottir, Johanna, Conley, Yvette P, Weeks, Daniel E, Mah, Tammy S, Ferrell, Robert E, Gorin, Michael B

المصدر: American Journal of Human Genetics. 77(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Research, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 10, Cohort Studies, Gene Frequency, Genetic Linkage, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins, Linkage Disequilibrium, Macular Degeneration, Membrane Proteins, Odds Ratio, Pedigree, Polymorphism, Single Nucleotide, United States, White People, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9qd1d9vq

المؤلفون: Fisher, Sheila A, Abecasis, Goncalo R, Yashar, Beverly M, Zareparsi, Sepideh, Swaroop, Anand, Iyengar, Sudha K, Klein, Barbara EK, Klein, Ronald, Lee, Kristine E, Majewski, Jacek, Schultz, Dennis W, Klein, Michael L, Seddon, Johanna M, Santangelo, Susan L, Weeks, Daniel E, Conley, Yvette P, Mah, Tammy S, Schmidt, Silke, Haines, Jonathan L, Pericak-Vance, Margaret A, Gorin, Michael B, Schulz, Heidi L, Pardi, Fabio, Lewis, Cathryn M, Weber, Bernhard HF

المصدر: Human Molecular Genetics. 14(15)

مصطلحات موضوعية: Biological Sciences, Genetics, Macular Degeneration, Human Genome, Neurodegenerative, Aging, Genetic Linkage, Genetic Predisposition to Disease, Genome, Human, Humans, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/41p409m0

المؤلفون: Demirci, F Yesim K, Gupta, Nisha, Radak, Amy L, Rigatti, Brian W, Mah, Tammy S, Milam, Ann H, Gorin, Michael B

المصدر: American Journal of Ophthalmology. 139(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurosciences, Eye, Aged, Atrophy, Exons, Eye Proteins, Genetic Diseases, X-Linked, Humans, Macula Lutea, Male, Mutation, Open Reading Frames, Phenotype, Photoreceptor Cells, Vertebrate, Pigment Epithelium of Eye, Retinitis Pigmentosa, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4gq0d3mw

المؤلفون: Demirci, F Yesim K, Radak, Amy L, Rigatti, Brian W, Mah, Tammy S, Gorin, Michael B

المصدر: American Journal of Ophthalmology. 138(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Sequence, Child, Exons, Eye Proteins, Female, Guanine Nucleotide Exchange Factors, Humans, Male, Mutation, Missense, Polymorphism, Restriction Fragment Length, RNA Splicing, Retinitis Pigmentosa, Reverse Transcriptase Polymerase Chain Reaction, Sequence Deletion, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1kt7z1dm

المؤلفون: Demirci, F Yesim K, Rigatti, Brian W, Mah, Tammy S, Gorin, Michael B

المصدر: American Journal of Ophthalmology. 138(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Rare Diseases, Neurodegenerative, Biotechnology, Clinical Research, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, DNA Mutational Analysis, Genetic Heterogeneity, Heterozygote, Humans, Male, Mutation, Night Blindness, Pedigree, Polymerase Chain Reaction, Retinaldehyde, Retinitis Pigmentosa, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4xd8w82r

المؤلفون: Demirci, F Yesim K, Rigatti, Brian W, Wen, Gaiping, Radak, Amy L, Mah, Tammy S, Baic, Corrine L, Traboulsi, Elias I, Alitalo, Tiina, Ramser, Juliane, Gorin, Michael B

المصدر: American journal of human genetics. 70(4)

مصطلحات موضوعية: X Chromosome, Humans, Retinitis Pigmentosa, Carrier Proteins, Eye Proteins, Amino Acid Sequence, Base Sequence, Genetic Heterogeneity, Mutation, Open Reading Frames, Exons, Molecular Sequence Data, Genetic Linkage, Neurosciences, Genetics, Eye Disease and Disorders of Vision, Rare Diseases, Genetics & Heredity, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1rw549vc

المؤلفون: Weeks, Daniel E, Conley, Yvette P, Ferrell, Robert E, Mah, Tammy S, Gorin, Michael B

المصدر: Genome Research. 12(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Alleles, Genetic Linkage, Genetic Markers, Genetic Techniques, Genotype, Humans, Linear Models, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/08m294g0

المؤلفون: Keverline, Michael R, Mah, Tammy S, Keverline, Paul O, Gorin, Michael B

المصدر: Ophthalmic Genetics. 19(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Aging, Neurodegenerative, Eye Disease and Disorders of Vision, Macular Degeneration, Clinical Research, Aged, Cohort Studies, Data Collection, Humans, Middle Aged, Ophthalmology, Prevalence, Professional Practice, Surveys and Questionnaires, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9nh8k979

المؤلفون: Fisher, Sheila A., Abecasis, Goncalo R., Yashar, Beverly M., Zareparsi, Sepideh, Swaroop, Anand, Iyengar, Sudha K., Klein, Barbara E.K., Klein, Ronald, Lee, Kristine E., Majewski, Jacek, Schultz, Dennis W., Klein, Michael L., Seddon, Johanna M., Santangelo, Susan L., Weeks, Daniel E., Conley, Yvette P., Mah, Tammy S., Schmidt, Silke, Haines, Jonathan L., Pericak-Vance, Margaret A., Gorin, Michael B., Schulz, Heidi L., Pardi, Fabio, Lewis, Cathryn M., Weber, Bernhard H.F.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/14/15/2257; http://dx.doi.org/10.1093/hmg/ddi230

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/14/15/2257
https://doi.org/10.1093/hmg/ddi230

المؤلفون: Weeks, Daniel E., Conley, Yvette P., Mah, Tammy S., Paul, T. Otis, Morse, Lawrence, Ngo-Chang, Julilani, Dailey, J.P., Ferrell, Robert E., Gorin, Michael B.

مصطلحات موضوعية: REPORTS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/9/9/1329; http://dx.doi.org/10.1093/hmg/9.9.1329

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/9/9/1329
https://doi.org/10.1093/hmg/9.9.1329

المؤلفون: Conley, Yvette P., Erturk, Deniz, Keverline, Andrew, Mah, Tammy S., Keravala, Annahita, Barnes, Laura R., Bruchis, Anna, Hess, John F., FitzGerald, P.G., Weeks, Daniel E., Ferrell, Robert E., Gorin, Michael B.

المصدر: The American Journal of Human Genetics ; volume 66, issue 4, page 1426-1431 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/302871
https://api.elsevier.com/content/article/PII:S0002929707601712?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707601712?httpAccept=text/plain

المؤلفون: Seymour, Albert B., Dash-Modi, Anita, O'Connell, Jeffrey R., Shaffer-Gordon, Maria, Mah, Tammy S., Stefko, S. Tonya, Nagaraja, Ramaiah, Brown, Jeremiah, Kimura, Alan E., Ferrell, Robert E., Gorin, Michael B.

المصدر: The American Journal of Human Genetics ; volume 62, issue 1, page 122-129 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/301667
https://api.elsevier.com/content/article/PII:S0002929707601293?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707601293?httpAccept=text/plain

المؤلفون: Gordon, Y. Jerold, Mann, Rupinder K., Mah, Tammy S., Gorin, Michael B.

المصدر: Cornea ; volume 21, issue 8, page 770-773 ; ISSN 0277-3740

الاتاحة: http://dx.doi.org/10.1097/00003226-200211000-00007
http://journals.lww.com/00003226-200211000-00007

المؤلفون: Schmidt, Silke, Klaver, Caroline C. W., Saunders, Ann M., Postel, Eric A., De La Paz, Monica A., Agarwal, Anita, Small, Kent W., Udar, Nitin, Ong, John M., Chalukya, Meenal V., Nesburn, Anthony, Keeney, M. Cristina, Domurath, Ruth M., Hogan, Moly, Mah, Tammy S., Conley, Yvette P., Ferrell, Robert E., Weeks, Daniel E., de Jong, Paulus T.V.M.

المصدر: Ophthalmic Genetics; Dec2002, Vol. 23 Issue 4, p209, 15p, 3 Charts, 2 Graphs

مصطلحات موضوعية: APOLIPOPROTEIN E, GENES, RETINAL diseases

المؤلفون: Weeks, Daniel E.^1,2, Conley, Yvette P.^1,3, Hui-Ju Tsai¹, Mah, Tammy S.⁴, Schmidt, Silke⁵, Postel, Eric A.⁶, Agarwal, Anita⁷, Haines, Jonathan L.⁸, Pericak-Vance, Margaret A.⁵, Rosenfeld, Philip J.⁹, Paul, T. Otis¹⁰, Eller, Andrew W.⁴, Morse, Lawrence S.¹¹, Dailey, J. P.¹², Ferrell, Robert E.¹, Gorin, Michael B.^1,4 gorinmb@upmc.edu

المصدر: American Journal of Human Genetics. Aug2004, Vol. 75 Issue 2, p174-189. 16p.

مصطلحات موضوعية: *RETINAL degeneration, *VISION disorders, *RETINAL diseases, *DISEASES in older people, *DEGENERATION (Pathology), *GERIATRICS