A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

Autor: Nobuo Fuse, Satoko Shimizu, Maya Eibschitz-Tsimhoni, Julia E. Richards, David M. Reed, Alan Sugar, Edward H. Trager, Frank W. Rozsa, Michael Boehnke, Sayoko E. Moroi, Miriam T. Schteingart, Charles M. Krafchak, Catherine A. Downs, Michael P. Epstein

Publikováno v: American Journal of Medical Genetics. :372-377

Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdac68d73a90a81de1390271efeea034
https://doi.org/10.1002/ajmg.a.30267

Contributors

Autor: Richard L Abbott, Sean D Adrean, Abdulrahman Al-Muammar, Jihan Akhtar, Eduardo C Alfonso, Richard C Allen, M Camille Almond, Lênio Alvarenga, Wallace LM Alward, Renato Ambrósio, Mohammad Anwar, Dimitri T Azar, James L Ball, Neal P Barney, Rebecca M Bartow, Jules Baum, Michael W Belin, Jason H Bell, Beth Ann Benetz, Zachary Berbos, Roger W Beuerman, Arpita Kadakia Bhasin, Pooja V Bhat, Joseph M Biber, Maria Bidros, Andrea D Birnbaum, Charles S Bouchard, Jay C Bradley, James D Brandt, Richard D Brasington, Harilaos S Brilakis, Cat N Burkat, Marta Calatayud, J Douglas Cameron, Mauro Campos, Emmett F Carpel, H Dwight Cavanagh, Cordelia Chan, Richard I Chang, Bernard H Chang, Kenneth C Chern, Steven Ching, James Chodosh, Phillip H Choo, Gary Chung, Joseph B Ciolino, Janine A Clayton, Elisabeth J Cohen, Oliver Comyn, M Soledad Cortina, John W Cowden, Christopher R Croasdale, Richard S Davidson, Elizabeth A Davis, Sheraz M Daya, Denise de Freitas, David L DeMill, Lauro Augusto de Oliveira, Marc D de Smet, Luciene B de Sousa, Ali R Djalilian, Claes H Dohlman, Eric D Donnenfeld, Richard K Dortzbach, William T Driebe, Steven P Dunn, Ralph C Eagle, Sean L Edelstein, Richard A Eiferman, Joseph A Eliason, Marjan Farid, William J Faulkner, Robert S Feder, Vahid Feiz, Matthew T Feng, John H Fingert, George J Florakis, Luigi Fontana, Richard K Forster, C Stephen Foster, F Stuart Foster, Gary N Foulks, Mitchell H Friedlander, Masahiko Fukuda, Anat Galor, Theresa J Gan, Prashant Garg, Sumit Garg, David B Glasser, Kenneth M Goins, Debra A Goldstein, Chloe Gottlieb, Michael R Grimmett, Oscar Gris, Erich B Groos, William D Gruzensky, Jose L Güell, Preeya K Gupta, M Bowes Hamill, Kristin M Hammersmith, Pedram Hamrah, Sadeer B Hannush, David R Hardten, Andrew Harrison, Ellen L Heck, David G Heidemann, David C Herman, J Martin Heur, William G Hodge, Carol J Hoffman, Edward J Holland, Gary N Holland, Marc A Honig, Christopher T Hood, Eliza N Hoskins, Andrew J W Huang, David Huang, Jennifer I Hui, Joseph D Iuorno, W Bruce Jackson, Frederick A Jakobiec, Bennie H Jeng, James V Jester, David R Jordan, Terry L Kaiura, Carol L Karp, Douglas G Katz, Stephen C Kaufman, Robert C Kersten, Stephen S Khachikian, Jennifer H Kim, Joung Y Kim, Stella K Kim, Terry Kim, Colin M Kirkness, Stephen D Klyce, Douglas D Koch, Regis P Kowalski, Jay H Krachmer, Peter R Laibson, Stephen S Lane, Jonathan H Lass, W Barry Lee, Olivia A Lee, Michael A Lemp, Phoebe D Lenhart, Yan Li, Thomas J Liesegang, Michele C Lim, Lily Koo Lin, Michael P Lin, Thomas D Lindquist, Richard L Lindstrom, David Litoff, Christopher Liu, Careen Y Lowder, Anthony J Lubniewski, Hall T McGee, Ian W McLean, Marian S Macsai, Felicidad Manero, Mark J Mannis, Dimosthenis Mantopoulos, Carlos E Martinez, Csaba L Mártonyi, Raneen S Mashor, William D Mathers, Manisha N Mehta, David M Meisler, Shahzad I Mian, Darlene Miller, Corey A Miller, Monty Montoya, Merce Morral, Andrew L Moyes, Michael L Murphy, Nariman Nassiri, Kristiana D Neff, J Daniel Nelson, Jeffrey A Nerad, Marcelo V Netto, Christopher J Newton, Lisa M Nijm, Teruo Nishida, Bruce A Noble, Michael L Nordlund, Robert B Nussenblatt, David G O'Day, Jenny V Ongkosuwito, Karen W Oxford, David A Palay, Florentino E Palmon, Deval R Paranjpe, Mansi Parikh, David H Park, D J John Park, Matthew R Parsons, Charles J Pavlin, Eric S Pearlstein, Alicia Perry, W Matthew Petroll, Daryl R Pfister, Roswell R Pfister, Stephen C Pflugfelder, Francis W Price, Marianne O Price, Louis E Probst, John J Purcell, Andrew A E Pyott, Michael B Raizman, Leela V Raju, J Bradley Randleman, Gullapalli N Rao, Christopher J Rapuano, Charles D Reilly, Adimara de Candelaria Renesto, Renata A Rezende, Danielle M Robertson, David S Rootman, Jason S Rothman, Roy Scott Rubinfeld, Alan E Sadowsky, Shizuya Saika, Monali V Sakhalkar, James J Salz, Virender S Sangwan, Marinho Scarpi, Bradley H Scharf, Greg Schmidt, Artur Schmitt, Fernanda Piccoli Schmitt, Miriam T Schteingart, Ivan R Schwab, Brian L Schwam, Gary S Schwartz, H Nida Sen, Michael B Shapiro, Shigeto Shimmura, Neera Singal, Heather M Skeens, Craig A Skolnick, Allan R Slomovic, Janine A Smith, Michael E Snyder, Renée Solomon, Sarkis H Soukiasian, Sathish Srinivasan, John F Stamler, Roger F Steinert, Glenn L Stoller, Barbara W Streeten, R Doyle Stulting, Alan Sugar, Joel Sugar, Donald Tan, Joseph Tauber, Mark A Terry, Howard H Tessler, Marta Torrabadella, Elias I Traboulsi, William B Trattler, Julie H Tsai, David T Tse, Elmer Y Tu, Roxana Ursea, Pravin K Vaddavalli, Woodford S Van Meter, Gary A Varley, Roshni Vasaiwala, Anthony J Verachtert, David D Verdier, Ana Carolina Vieira, Vanee V Virasch, Li Wang, George O Waring, Michael A Warner, Kevin J Warrian, Guy F Webster, Mitchell P Weikert, Robert W Weisenthal, Jayne S Weiss, Pongmas Wichiensin, Kirk R Wilhelmus, Steven E Wilson, Maria A Woodward, Richard W Yee, Sonya Yoo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c4b98029da83cc92c271fdbbe3702508
https://doi.org/10.1016/b978-0-323-06387-6.00005-2

Bilateral eyelid ecchymoses and corneal crystals: an unusual presentation of multiple myeloma

Autor: Debra A. Goldstein, Miriam T Schteingart, Andrea D. Birnbaum, Howard H. Tessler

Publikováno v: Cornea. 24(6)

This report describes a case of multiple myeloma that presented as bilateral eyelid ecchymoses and corneal crystals in the absence of widespread signs of systemic disease.A 55-year-old man was found to have the sudden appearance of bilateral eyelid e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ab7e010dd9c6f20ef88b29b28cde770
https://pubmed.ncbi.nlm.nih.gov/16015100