Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Chris Whitebirch"'
Autor:
Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
Publikováno v:
International Journal of Retina and Vitreous, Vol 3, Iss 1, Pp 1-11 (2017)
Abstract Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by
Externí odkaz:
https://doaj.org/article/b04efcb315cd4c5ba5fe05ba979b6ba4
Autor:
Laura M. Amendola, Elizabeth Shuster, Michael C. Leo, Michael O. Dorschner, Bradley A. Rolf, Brian H. Shirts, Marian J. Gilmore, Sonia Okuyama, Jamilyn M. Zepp, Tia L. Kauffman, Kathleen F. Mittendorf, Cecilia Bellcross, Charisma L. Jenkins, Galen Joseph, Leslie Riddle, Sapna Syngal, Chinedu Ukaegbu, Katrina A.B. Goddard, Benjamin S. Wilfond, Gail P. Jarvik, Jake Allen, Katherine P. Anderson, Frank Angelo, Briana L. Arnold, Cecelia Bellcross, Tiffany Bendelow, Barbara B. Biesecker, Kristin D. Breslin, Joanna E. Bulkley, Kristina F. Booker, Mikaella Caruncho, James V. Davis, Sonia Deutsch, Beth Devine, Devan M. Duenas, Donna J. Eubanks, Heather Spencer Feigelson, Amanda S. Freed, Clay Greaney, Inga Gruß, Claudia Guerra, Boya Guo, Joan Holup, Jessica Ezzell Hunter, Chalinya L. Ingphakorn, Paige Jackson, Leah S. Karliner, Erin Keast, Sarah Knerr, Alyssa H. Koomas, Stephanie A. Kraft, Mi H. Lee, Robin Lee, Sandra Soo-Jin Lee, Hannah S. Lewis, Elizabeth G. Liles, Nangel M. Lindberg, Frances Lynch, Carmit K. McMullen, Elizabeth Medina, Kristin R. Muessig, C. Samuel Peterson, Angela R. Paolucci, Rosse Rodriguez Perez, Kathryn M. Porter, Chelese L. Ransom, Ana Reyes, Leslie S. Riddle, Sperry Robinson, Alan F. Rope, Emily Schield, Jennifer L. Schneider, Kelly J. Shipman, Britta N. Torgrimson-Ojerio, Meredith L. Vandermeer, Alexandra M. Varga, David L. Veenstra, W. Chris Whitebirch, Larissa Lee White
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(6)
This study aimed to evaluate the laboratory-related outcomes of participants who were offered genomic testing based on cancer family history risk assessment tools.Patients from clinics that serve populations with access barriers, who are screened at
Autor:
Chris Whitebirch, Karita Antunes Costa, John Chiang, Mariana Vallim Salles, Juliana Maria Ferraz Sallum
Publikováno v:
International Journal of Retina and Vitreous, Vol 3, Iss 1, Pp 1-11 (2017)
International Journal of Retina and Vitreous
International Journal of Retina and Vitreous
Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progre
Autor:
Margaret Humphries, J. Timothy Stout, Elvira N. Chegarnov, Mark E. Pennesi, Chris Whitebirch, Terence R. Flotte, Richard G. Weleber, Kathleen N Beasley, Beverly Thean, Jeffrey D. Chulay, Paul Yang
Publikováno v:
Human gene therapy. 29(12)
Previously, results at 2 years after subretinal injection of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in eight adults and four children with retinal degeneration caused by RPE65 mutations were reported. Now, resu