Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

Autor: Stuart Caroline, Caruso Rafael C, Kleta Robert, Brooks Brian P, Ludlow Jonathan, Stratakis Constantine A

Publikováno v: BMC Ophthalmology, Vol 4, Iss 1, p 7 (2004)

Abstract Background Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and – occasionally – autonomic instability. Mutations have been found in the AAAS gene on 12

Externí odkaz: https://doaj.org/article/27b59baba59d419db11dec1195711528

Ciliary Neurotrophic Factor (CNTF) for Human Retinal Degeneration: Phase I Trial of CNTF Delivered by Encapsulated Cell Intraocular Implants

Autor: Sieving, Paul A., Caruso, Rafael C., Tao, Weng, Coleman, Hanna R., Thompson, Darby J. S., Fullmer, Keri R., Bush, Ronald A.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2006 Mar 01. 103(10), 3896-3901.

Externí odkaz: https://www.jstor.org/stable/30048684

Central Visual Function and the NEI-VFQ-25 Near and Distance Activities Subscale Scores in People with Type 1 and 2 Diabetes

Autor: Cusick, Michael, Sangiovanni, John Paul, Chew, Emily Y., Csaky, Karl G., Hall-Shimel, Katherine, Reed, George F., Caruso, Rafael C., Ferris, Frederick L., III

Publikováno v: In American Journal of Ophthalmology 2005 139(6):1042-1050

13 - Degenerações Retinianas Hereditárias Progressivas e “Estacionárias”

Autor: Cukras, Catherine A., Zein, Wadih M., Caruso, Rafael C., Sieving, Paul A.

Publikováno v: In Yanoff & Duker Retina e Vítreo 2017:62-72

Colaboradores

Autor: Acera, Erika C., Afshari, Natalie A., Agarwal, Anita, Agranat, Joshua S., Ajlan, Radwan S., Akhlaq, Anam, Albini, Thomas A., Al-Ghoul, Ahmed, Ali, Ferhina S., Alió, Jorge L., Allemann, Norma, Allen, David, Allman, Keith G., Alvi, Nishat P., Ang, Leonard P.K., Apple, David J., Aquino, Maria Cecilia D., Arnold, Anthony C., Arshinoff, Steve A., Asbell, Penny A., Assil, Kerry K., Atebara, Neal H., Augsburger, James J., Aylward, G. William, Azar, Dimitri T., Bakri, Sophie J., Balcer, Laura J., Balducci, Nicole, Barboni, Piero, Barnett, Cullen J., Basu, Soumyava, Batta, Priti, Baumal, Caroline R., Bearelly, Srilaxmi, Berry, Jesse L., Bessette, Angela P., Bhatt, Nirali, Birdsong, Orry C., Biswas, Jyotirmay, Bodaghi, Bahram, Bose, Swaraj, Bouchard, Charles S., Boulton, Michael E., Brandt, James D., Brodie, Scott E., Brodsky, Michael C., Brooks, Cassandra C., Brumm, Matthew V., Budenz, Donald L., Bussel, Igor I., Cantor, Louis B., Capó, Hilda, Capone, Antonio, Jr., Carruthers, Alastair, Carruthers, Jean, Carter, Keith D., Caruso, Rafael C., Chahal, Harinderpal S., Chamon, Wallace, Chan, Chi-Chao, Chang, Melinda Y., Chang, Stanley, Chang, Victoria S., Charteris, David G., Chee, Soon-Phaik, Chen, John J., Chen, Xuejing, Chew, Paul T.K., Chiu, Bing, Chow, Clement C., Civan, Mortimer M., Clark, Abbot (Abe), Clarke, Jonathan C.K., Codère, François, Conner, Ian P., Coombs, Peter, Corrêa, Zélia M., Couch, Steven M., Coupland, Stuart G., Cowan, Claude L., Jr., Craven, E. Randy, Cukras, Catherine A., Dagi, Linda R., Dahan, Elie, Damgaard, Iben Bach, Damji, Karim F., Das, Dipankar, DeBusk, Adam, de la Cruz, Jose, Demer, Joseph L., Desai, Shilpa J., Dhaliwal, Deepinder K., Diamond, Gary R., Diniz, Daniel, Do, Diana V., Dolman, Peter J., Donahue, Sean P., Dortzbach, Richard K., Drenser, Kimberly A., Duker, Jacob S., Duker, Jay S., Durairaj, Vikram D., Dutton, Jonathan J., Edgington, Bryan, Eggers, Howard M., Eliott, Dean, Ellis, George S., Jr., Engelbert, Michael, Englander, Miriam, Esmaeli, Bita, Evans, Joshua W., Evans, Monica, Fahd, Daoud S., Faia, Lisa J., Fallano, Katherine A., Farjo, Ayad A., Feinstein, Eric, Fernandez, Karen B., Fisher, Yale L., Fishman, Gerald A., Fortun, Jorge A., Fragoso, Veronica Vargas, Freeman, Nicola, Friedman, David S., Friedman, Deborah I., Friedman, Neil J., Fynn-Thompson, Nicoletta, Gadaria-Rathod, Neha, Garcia-Zalisnak, Debora E., Gayre, Gregg S., Gedde, Steven J., Gery, Igal, Ghanem, Ramon C., Ghanem, Vinícius C., Ghosh, Saurabh, Gibbons, Allister, Gigantelli, James W., Giri, Pushpanjali, Goldberg, Ivan, Goldberg, Jeffrey L., Goldstein, Debra A., Goldstein, Michael H., Gonzales, John A., Granet, David B., Gray, Matthew J., Green, Kyle M., Greven, Craig M., Greven, Margaret A., Gross, Josh C., Gross, Ronald L., Grover, Sandeep, Guercio, Jason R., Gueudry, Julie, Gündüz, Ahmet Kaan, Hallak, Joelle A., Haller, Julia A., Hamrah, Pedram, Hardten, David R., Harris, Alon, Heier, Jeffrey S., Herndon, Leon W., Jr., Ho, Allen C., Hood, Christopher T., Hou, Joshua H., Houghton, Odette M., Houser, Kourtney, Howes, Frank W., Hsu, Jason, Hurwitz, Jeffrey J., Irochima, Francisco, Isteitiya, Jihad, Izak, Andrea M., Jacobs, Deborah S., Jain, Sandeep, Jampel, Henry D., Jampol, Lee M., Jap, Aliza, Johnson, Chris A., Johnson, Mark W., Johnson, T. Mark, Kaehr, Mark M., Kahook, Malik Y., Kaiser, Peter K., Kalarn, Sachin P., Kalevar, Ananda, Kane, Steven, Kanner, Elliott M., Kaplowitz, Kevin, Kapusta, Michael A., Karanjia, Rustum, Kardon, Randy H., Karp, Carol L., Kashani, Amir H., Kass, Michael A., Kataguiri, Paula, Katz, L. Jay, Kaufman, Paul L., Keenan, Jeremy D., Kenyon, Kenneth R., Khaw, Sir Peng Tee, Kim, Gene, Kim, Ivana K., Kimura, Alan E., Kinori, Michael, Kirwan, Caitriona, Kiss, Szilárd, Kitchens, John W., Klein, Kendra, Koch, Douglas D., Koh, Victor T.C., Kohnen, Thomas, Koustenis, Andrew, Lane, Stephen S., Lavin, Patrick J.M., Lavinsky, Fabio, Lawton, Andrew W., Lee, Bryan S., Lee, Daniel, Lee, Gregory D., Lee, Olivia L., Lee, Paul P., Lee, Richard M.H., Lim, Dawn K.A., Lim, Jennifer I., Lim, Ridia, Lin, Tony K.Y., Lind, John T., Liu, Yao, Liyanage, Sidath E., Lockwood, Alastair J., Loewen, Nils A., Longmuir, Reid A., Lopez, Pedro F., Lundström, Mats, Maamari, Robi N., Madu, Assumpta, Maloney, Maya H., Mandava, Naresh, Marmor, Michael F., Mathura, Jeevan R., Jr., Mattox, Cynthia, McClatchey, Scott K., McLeod, Stephen D., McMillan, Brian D., McNab, Alan A., Mehta, Jodhbir S., Mejico, Luis J., Mercado, Carolina L., Mian, Shahzad I., Mieler, William F., Miller, David, Miller, Kyle E., Mimura, Tatsuya, Mirza, Rukhsana G., Mititelu, Mihai, Moorthy, Ramana S., Moshfeghi, Andrew A., Moshirfar, Majid, Moss, Heather E., Moster, Mark L., Muir, Kelly W., Neff, Ann G., Nerad, Jeffrey A., Nikpoor, Neda, Noecker, Robert J., Nosé, Ricardo, Okada, Annabelle A., O’Keefe, Michael, Olson, Jeffrey L., Olver, Jane M., Opalinski, Yvonne A.V., Örge, Faruk H., Packer, Mark, Pandey, Suresh K., Parikh, Vishal S., Pasquale, Louis R., Patel, Sarju S., Patel, Vivek R., Pavesio, Carlos E., Perez, Victor L., Perez-Straziota, Claudia E., Phillips, Lauren T., Piltz-Seymour, Jody R., Piva, Alfio P., Podbielski, Dominik W., Pondelis, Nicolas J., Price, Francis W., Jr., Price, Marianne O., Pritchard, Cindy, Quiros, Peter A., Rachitskaya, Aleksandra V., Ramulu, Pradeep Y., Randleman, J. Bradley, Rao, Narsing A., Rao, Naveen K., Rao, P. Kumar, Rao, Rajesh C., Rathinam, Sivakumar, Read, Russell W., Regatieri, Caio Vinicius Saito, Regillo, Carl D., Reichel, Elias, Rhee, Douglas J., Ringeisen, Alexander L., Ritch, Robert, Robbins, Shira L., Rodger, Damien C., Roh, Miin, Roh, Shiyoung, Rosado-Adames, Noel, Rosen, Emanuel S., Rubenstein, Jonathan B., Rubin, Richard M., Rubin, Steven E., Rubsamen, Patrick E., Rupp, Jason D., Saadati, Hossein G., Sadun, Alfredo A., Saeedi, Osamah J., Salchow, Daniel J., Salim, Sarwat, Samuelson, Thomas W., Sandhu, Simrenjeet, Santhiago, Marcony R., Savini, Giacomo, Sayed-Ahmed, Ibrahim O., Scheffler, Amy C., Schor, Paulo, Schubert, Hermann D., Schuman, Joel S., Schwartz, Gary S., Sebag, J., Sebrow, Dov B., Sen, H. Nida, Shah, Gaurav K., Shields, Carol L., Shildkrot, Yevgeniy (Eugene), Shingleton, Bradford J., Shtein, Roni M., Shultz, Ryan W., Sierra, Patricia B., Siesky, Brent, Sieving, Paul A., Skondra, Dimitra, Small, Kent W., Smiddy, William E., Somogyi, Marie, Soong, H. Kaz, Soukiasian, Sarkis H., Spaide, Richard F., Spektor, Tatyana, Spoor, Thomas C., Srivastava, Sunil K., Stagg, Brian C., Steel, David H.W., Stein, Joshua D., Strominger, Mitchell B., Sugar, Alan, Sugar, Joel, Sychev, Yevgeniy V., Tai, Tak Yee Tania, Tan, James C., Tanenbaum, Myron, Taneri, Suphi, Tasman, William, Telander, David G., Thall, Edmond H., Thanos, Aristomenis, Theophanous, Christos N., Thomas, Benjamin J., Thulasi, Praneetha, Tibbetts, Michael D., Tingey, David P., Tobaigy, Faisal M., Todorich, Bozho, Tompson, Stuart W., Tsai, James C., Tsai, Julie H., Tucker, Nancy, Tuli, Sonal S., Vargason, Caroline W., Vasaiwala, Roshni A., Vasconcelos-Santos, Daniel Vitor, Vaughn, Gregory J., Venkat, Arthi, Villarreal, Guadalupe, Jr., Vinod, Kateki, Vislisel, Jesse M., Vrcek, Ivan, Wadia, Hormuz P., Walker, Brian D., Walton, David S., Wang, Li, Wang, Michelle Y., Wang, Robert C., Wax, Martin, Weinstein, Joel M., Weiter, John J., Werner, Liliana, Wevill, Mark, Wiggs, Janey L., Williams, Andrew M., Williams, George A., Witmer, Matthew T., Wollstein, Gadi, Woodward, Maria A., Wride, Nicholas K., Wu, Albert, Xu, David, Young, Joshua A., Yung, Edward S., Yu-Wai-Man, Cynthia, Zein, Wadih M., Zhu, Ivy

Publikováno v: In Oftalmología Edition: Fifth Edition. 2020:xiv-xxii