المؤلفون: Steven Falcone, Smiljana Spasic, Seif Tarek El-Swaify, Maja Kostic, Samir Sur, Prem S. Subramanian, Neil R. Miller, Byron L. Lam, Jacques J. Morcos

المصدر: Journal of Neuro-Ophthalmology. 42:108-114

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, genetic structures, Vision Disorders, Optic chiasm, Blurred vision, medicine, Humans, Right optic nerve, business.industry, Optic Nerve Neoplasms, Progressive visual loss, Headache, Optic Nerve, Middle Aged, Cavernous malformations, medicine.disease, Magnetic Resonance Imaging, eye diseases, Surgery, Visual field, Ophthalmology, medicine.anatomical_structure, Optic Chiasm, Right optic tract, Optic nerve, Hemianopsia, Female, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8cf272666f6e24ace04e626a5a6fa7
https://doi.org/10.1097/wno.0000000000001238

المؤلفون: Byron L. Lam, Benjamin J. Fowler

المصدر: International Medical Case Reports Journal. 13:667-671

مصطلحات موضوعية: Diplopia, medicine.medical_specialty, business.industry, General Medicine, 030204 cardiovascular system & hematology, Gene mutation, medicine.disease, Malignancy, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Biliary tract, Cavernous sinus, 030221 ophthalmology & optometry, medicine, Carcinoma, Adenocarcinoma, Radiology, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b5979e5a5618836e95def6c5e0bbcc74
https://doi.org/10.2147/imcrj.s272818

المؤلفون: Katherine Wesseling Perry, Archana Raja, Emilie D. Douine, Xue Zhong Liu, Brent L. Fogel, Stan F. Nelson, Kenneth R. Maravilla, Eva H. Baker, Dave Viskochil, Kerstin Kutsche, Jordan H. Whitlock, Susan L. Samson, Christine M. Eng, Chloe M. Reuter, Suman Jayadev, David R. Adams, Sihoun Hahn, Rebecca C. Spillmann, Margaret Adam, Heather C Mefford, John C. Carey, Ehsan Ghayoor Karimiani, Donna M. Krasnewich, David Goldstein, Susan A. Korrick, Guoyun Yu, Tomas Honzik, Henry Houlden, Andrea L. Gropman, David A. Sweetser, Anna Bican, Carlos A. Bacino, Liliana Fernandez, Gabrielle Brown, Justin Alvey, Hane Lee, Emanuele G. Coci, Hongzheng Dai, Mario Saporta, Laurel A. Cobban, John F. Bohnsack, Stephanie Fox, Heidi Cope, Tyra Estwick, Lorraine Potocki, Nichole Hayes, Elizabeth A. Burke, Rizwan Hamid, Aaron R. Quinlan, Kelly Hassey, Lindsay C. Burrage, Jane Juusola, Adeline Vanderver, Malik Alawi, Teri A. Manolio, Maja Hempel, Esther M. Maier, Jennifer Kennedy, Bruce D. Gelb, Martha Horike-Pyne, Amarilis Sanchez-Valle, Euan A. Ashley, Surendra Dasari, Elizabeth Blue, Eva Morava-Kozicz, Natalie Rosenwasser, Alan H. Beggs, Bryn D. Webb, Isaac S. Kohane, Kelly Schoch, C. Christopher Lau, Nicole M. Walley, Laura M. Amendola, Genecee Renteria, Catherine H. Sillari, Jonathan A. Bernstein, Pinar Bayrak-Toydemir, R. Frank Kooy, Mariko Nakano-Okuno, Manuela Siekmeyer, Marije E. C. Meuwissen, Stephanie Bivona, Mark Wener, Precilla D'Souza, Olveen Carrasquillo, Paolo Moretti, Diane B. Zastrow, David J. Eckstein, Janet S. Sinsheimer, Kathy Sisco, Holly K. Tabor, William E. Byrd, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, Carsten Bonnenmann, J. Lawrence Merritt, Joan M. Stoler, Richard L. Maas, Paul G. Fisher, Jeanette C. Papp, Kimberly LeBlanc, Lilianna Solnica-Krezel, Mustafa Tekin, Mathias Woidy, Andrew B. Crouse, Katleen Ballon, David Murphy, Matthew T. Wheeler, Joseph Loscalzo, Ellen Macnamara, Cecelia P. Tamburro, Lefkothea P. Karaviti, Chunli Zhao, Ingrid A. Holm, Pankaj B. Agrawal, Alana L. Grajewski, Stephen C. Pak, Ian R. Lanza, Mohammad Doosti, Jennifer E. Posey, Rebecca Signer, Katie Golden-Grant, Christopher A. Walsh, Alica M. Goldman, Jyoti G. Dayal, Queenie K.-G. Tan, Martin G. Martin, Joy D. Cogan, Kevin S. Smith, Deborah A. Nickerson, Elisabeth McGee, Laure Fresard, Rena A. Godfrey, Sharyn A. Lincoln, Kathleen E. Sullivan, Mariska Davids, Melissa A. Walker, Prashant Sharma, Maria Iascone, Neil H. Parker, Carlos Ferreira, Elizabeth L. Fieg, Edwin K. Silverman, Michael L. Cunningham, Pengfei Liu, Edward M. Behrens, Sandra K. Loo, David R. Murdock, F. Sessions Cole, C. Ron Scott, Dan Doherty, Elly Brokamp, John H. Newman, Alden Y. Huang, Laura A. Pace, Avi Nath, Jimmy Bennet, Georg Christoph Korenke, Alyssa A. Tran, Gabriel F. Batzli, Jimann Shin, Matthew A. Deardorff, Naghmeh Dorrani, Diane Beysen, Irma Gutierrez, Stanislav Kmoch, Majid Alfadhel, Fred F. Telischi, Jennifer A. Sullivan, William A. Gahl, María Palomares-Bralo, Gerard T. Berry, Colleen E. McCormack, Lance H. Rodan, Reza Maroofian, Lenka Nosková, Judy Schaechter, Lynne A. Wolfe, Deborah Krakow, Daryl A. Scott, Tara Wenger, Jason Hom, Dustin Baldridge, Lynette Rives, Lee-kai Wang, Dawn L. Earl, Ralph L. Sacco, Fernando Santos-Simarro, Irman Forghani, Fuki M. Hisama, Terra R. Coakley, Hsiao-Tuan Chao, Jeremy D. Woods, Emily G. Kelley, Jean M. Johnston, Neil A. Hanchard, Amy K. Robertson, Matt Velinder, Byron L. Lam, Wendy H. Raskind, William J. Craigen, Stephan Züchner, Guney Bademci, Julian A. Martinez-Agosto, Mary Koziura, Beth A. Martin, Angela Sun, John A. Phillips, Seema R. Lalani, Daniela Buhas, Emily Solem, Gary D. Clark, Gill Bejerano, Ingo Kurth, Deborah Barbouth, Tiina K. Urv, Fanny Kortüm, Ian A. Glass, Ta Chen Peter Chang, Yong Huang, Roy C. Levitt, Paola Francesca Ajmone, Brenna Boyd, René Santer, Tim Schedl, David D. Draper, Ghayda M. Mirzaa, Aroa Rodríguez Alonso, Stephanie Wallace, Colleen E. Wahl, Calum A. MacRae, Gail P. Jarvik, Jacob L. McCauley, Jill A. Rosenfeld, Ronit Marom, Monte Westerfield, Matthew Might, Poupak Javaher-Haghighi, Brendan C. Lanpher, Devon Bonner, Cynthia J. Tifft, Cecilia Esteves, May Christine V. Malicdan, Jim Bale, Fariha Jamal, Nicola Longo, Christina G.S. Palmer, Lisa Emrick, Peter H. Byers, Vandana Shashi, Tiphanie P. Vogel, Richard A. Lewis, Jijun Wan, Barbara N. Pusey, Maria T. Acosta, Jaak Jaeken, Allyn McConkie-Rosell, Shirley Sutton, John Yang, Lorenzo D. Botto, Hilde Peeters, Rong Mao, Catherine Groden, Brendan Lee, Marta M. Majcherska, Rami Abou Jamra, Ashok Balasubramanyam, Joel B. Krier, Majid Mojarrad, Maria Francesca Bedeschi, Mahshid S. Azamian, Shruti Marwaha, Heather A. Colley, Katrina M. Dipple, Sirisak Chanprasert, Alexa T. McCray, Nicholas Stong, Anne V. Hing, Laura A. Mamounas, Edward C. Smith, Lauren C. Briere, John J.E. Mulvihill, Virginia P. Sybert, Maura R.Z. Ruzhnikov, Valerie Maduro, Frances A. High, Manish J. Butte, Willa Thorson, J. Carl Pallais, Jennefer N. Kohler, Dana Kiley, Raphael Bernier, Christina Lam, Michael J. Bamshad, Patricia A. Ward, Michael F. Wangler, Anita E. Beck, Shinya Yamamoto, Beverly Berg-Rood, Robb Rowley, Gabor T. Marth, Cynthia M. Cooper, Jeffrey G. Jarvik, Thomas C. Markello, Saskia Biskup, Devin Oglesbee, Laura Duncan, Elijah Kravets, Daniel J. Wegner, Mercedes E. Alejandro, Sarah K. Nicholas, Jennifer A. Wambach, Marni J. Falk, Brianna M. Tucker, Marie Morimoto, Corina Heller, Donna Novacic, Camilo Toro, Ashley Andrews, James P. Orengo, Shweta U. Dhar, Pauline E. Schneeberger

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Death Domain Receptor Signaling Adaptor Proteins, Programmed cell death, Developmental Disabilities, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidermal growth factor, medicine, Guanine Nucleotide Exchange Factors, Humans, Death domain, Kinase, Original Articles, Phenotype, Hypotonia, Protein Transport, 030104 developmental biology, Mutation, Cancer research, Human medicine, Neurology (clinical), Nervous System Diseases, Signal transduction, medicine.symptom, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469dd7950f25b051fd734c3b254fdd78
https://doi.org/10.1093/brain/awaa204

المؤلفون: Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman

المصدر: Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genet

مصطلحات موضوعية: Male, Pathology, Usher syndrome, Visual Acuity, Cell Cycle Proteins, Retinal Pigment Epithelium, Sensorineural, Neurodegenerative, Eye, Ophthalmology & Optometry, Autoantigens, Multimodal Imaging, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Arylsulfatases, Pediatric, 0303 health sciences, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, ARSG, Adult, medicine.medical_specialty, ABHD12, cep250, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Article, Pallor, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, Opthalmology and Optometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Genetics, Humans, CEP78, Genetic Testing, Hearing Loss, Codon, Eye Disease and Disorders of Vision, 030304 developmental biology, Retrospective Studies, Aged, Retinal pigment epithelium, business.industry, Neurosciences, Dystrophy, Retinal, medicine.disease, Monoacylglycerol Lipases, Ophthalmology, Orphan Drug, chemistry, Nonsense, Optical Coherence, Atypical usher syndrome, Pediatrics, Perinatology and Child Health, sense organs, business, 030217 neurology & neurosurgery, Cone-Rod Dystrophies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5
https://escholarship.org/uc/item/0vc5m5k3

المؤلفون: M. Dominik Fischer, Alexandra Davies, Edmond Luo, Cristina Martinez-Fernandez de la Camara, James Aylward, Anna Paola Salvetti, Byron L. Lam, Jasmina Cehajic-Kapetanovic, Potyra R. Rosa, Aniz Girach, Tuyen Ong, Laura J Wood, Jasleen K Jolly, Brandon J. Lujan, Graeme C.M. Black, Alun R. Barnard, Ninel Z. Gregori, Robert E MacLaren, Paulo E. Stanga, Andrew J. Lotery, Anika Nanda, Kanmin Xue, Janet L. Davis

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, Genetic enhancement, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, Retinitis pigmentosa, medicine, Clinical endpoint, Retina, business.industry, Retinal, General Medicine, medicine.disease, eye diseases, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, medicine.symptom, business, Microperimetry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::599e0e25ff2a57b4ee69a8de68818190
https://ora.ox.ac.uk/objects/uuid:4e8ab24d-7fab-49f1-993b-3bc234ed1928

المؤلفون: Rachel M. Huckfeldt, Cecinio C. Ronquillo, Jin Kyun Oh, Wadih M. Zein, Michael B. Gorin, Nan-Kai Wang, Alessandro Iannaccone, Cristy A. Ku, Byron L. Lam, Mark E. Pennesi, Paul S. Bernstein, John P. Kelly, Robert K. Koenekoop, Jeeyun Ahn, Jia Yue You, Robert B. Hufnagel, Emily Place, Aaron Nagiel, Paul Yang, Austin D. Igelman, Xinxin Zhang, Mariana Matioli da Palma, David G. Birch, Amanda Burr, Michelle T. Cabrera, Kari Branham, Abigail T. Fahim, Benjamin Bakall

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, JAG1, Visual acuity, genetic structures, Optic Disk, Visual Acuity, jaundice, Medical Records, Retina, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, Alagille syndrome, medicine, Genetics, Humans, Genetic Testing, Fluorescein Angiography, business.industry, Medical record, Optical Imaging, Eye Diseases, Hereditary, Jaundice, medicine.disease, eye diseases, retinal dystrophies, 030104 developmental biology, medicine.anatomical_structure, Cohort, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, Female, sense organs, medicine.symptom, business, cholestasis, Retinal Dystrophies, Jagged-1 Protein, Tomography, Optical Coherence, Optic disc

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae4fb9656764812418779807292ebb
http://europepmc.org/articles/PMC8254011

المؤلفون: Christine N. Kay, Alicia Chacon, Thomas B. Connor, William W. Hauswirth, Erica N. Woertz, Michel Michaelides, Mark E. Pennesi, Kimberly E Stepien, Joseph Carroll, Byron L. Lam, Niamh Wynne, Sasha Strul, C. Gail Summers, Arlene V. Drack, Brian P. Brooks, Deborah M. Costakos, Katie M. Litts, Alina V. Dumitrescu, Gerald A. Fishman

المصدر: Translational Vision Science & Technology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Achromatopsia, Visual acuity, genetic structures, Visual Acuity, Biomedical Engineering, Color Vision Defects, albinism, Article, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Foveal, Ophthalmology, medicine, Humans, In patient, Aged, adaptive optics scanning light ophthalmoscopy, Entire population, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, foveal cones, Benchmarking, 030104 developmental biology, 030221 ophthalmology & optometry, Albinism, sense organs, medicine.symptom, achromatopsia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05e509e67856dcc389146a677f05773
http://europepmc.org/articles/PMC8132001

المؤلفون: William W. Hauswirth, Erica N. Woertz, Christine N. Kay, Katie M. Litts, Mark E. Pennesi, Michel Michaelides, Michalis Georgiou, Gerald A. Fishman, Byron L. Lam, Joseph Carroll, Emily J Patterson

المصدر: Translational Vision Science & Technology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, Achromatopsia, genetic structures, Image quality, Biomedical Engineering, Visual Acuity, Color Vision Defects, Article, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Medical imaging, Medicine, Humans, Adaptive optics, Artifact (error), optical coherence tomography, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, 030104 developmental biology, inherited retinal disease, 030221 ophthalmology & optometry, sense organs, medicine.symptom, achromatopsia, business, Artifacts, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a79e58ba086c8e74627c2fe580ad26
http://europepmc.org/articles/PMC7804582

المؤلفون: Cornelis Rowaan, Joanne Martin, Steven Gayer, Osmany Gil Figueredo, Carlos Mendoza-Santiestaban, Jean-Marie A. Parel, Alex Gonzalez, Mu Liu, Byron L. Lam

المصدر: Journal of Visualized Experiments.

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, General Chemical Engineering, Dark Adaptation, Adaptation (eye), Retina, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Retinal Diseases, Anesthesiology, Electroretinography, medicine, Humans, Anesthesia, Scotopic vision, Child, General Immunology and Microbiology, business.industry, General Neuroscience, Infant, Retinal, chemistry, Child, Preschool, sense organs, medicine.symptom, business, Darkroom, Erg, Photopic vision

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f8e8cd8790cb838ef8452963755ede
https://doi.org/10.3791/61734-v

المؤلفون: Rajeshwari D. Koilkonda, William J. Feuer, Huijun Yuan, John Guy, William W. Hauswirth, Byron L. Lam, Vittorio Porciatti, Janet L. Davis, Phillip Gonzalez

المصدر: Ophthalmology. 124:1621-1634

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, genetic structures, Nerve fiber layer, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, Medicine, Young adult, Prospective cohort study, Generalized estimating equation, medicine.diagnostic_test, business.industry, Retinal, eye diseases, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business, Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::186d360527a66319058b3b6ab85e2bfa
https://doi.org/10.1016/j.ophtha.2017.05.016