Zobrazeno 1 - 10
of 241
pro vyhledávání: '"John R. Heckenlively"'
Autor:
Hayder Al-Hasani, Naheed W. Khan, Kari H. Branham, John R. Heckenlively, Stephen E. Sullivan, Lindsey B. De Lott, Abigail T. Fahim
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 19, Iss , Pp 100762- (2020)
Purpose: To report a case of pituitary adenoma in a patient with retinitis pigmentosa (RP) and consequent rapid constriction of the visual field in each eye, which is atypical for either of these pathologies. Observations: A 45-year old male, with a
Externí odkaz:
https://doaj.org/article/0c3737dc60134a3eb0f789a9b3913b85
Autor:
Steven K. Lundy, Enayat Nikoopour, Athanasios J. Karoukis, Ray Ohara, Mohammad I. Othman, Rebecca Tagett, K. Thiran Jayasundera, John R. Heckenlively
Publikováno v:
Frontiers in Medicine, Vol 5 (2018)
Autoimmune retinopathy (AIR) causes rapidly progressive vision loss that is treatable but often is confused with other forms of retinal degeneration including retinitis pigmentosa (RP). Measurement of anti-retinal antibodies (ARA) by Western blot is
Externí odkaz:
https://doaj.org/article/94e80add59ee4694a73230f663a02939
Autor:
Verity F. Oliver, Maria Franchina, Andrew E. Jaffe, Kari E. Branham, Mohammad Othman, John R. Heckenlively, Anand Swaroop, Betsy Campochiaro, Brendan J. Vote, Jamie E. Craig, Richard Saffery, David A. Mackey, Jiang Qian, Donald J. Zack, Alex W. Hewitt, Shannath L. Merbs
Publikováno v:
Cell Reports, Vol 5, Iss 6, Pp 1527-1535 (2013)
Age-related macular degeneration (AMD) is a leading cause of visual impairment worldwide. Aberrant DNA methylation within the promoter of IL17RC in peripheral blood mononuclear cells has recently been reported in AMD. To validate this association, we
Externí odkaz:
https://doaj.org/article/9916b486bd074600aac81861f8b924b1
The long-awaited second edition of an authoritative reference on electrophysiologic vision testing, including detailed information on techniques and problems, basic physiology and anatomy, theoretical concepts, and clinical findings; with extensive n
Autor:
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Publikováno v:
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
Autor:
John Suk, S. Amer Riazuddin, Kelly A. Frazer, Kari Branham, Pooja Biswas, Sindhu Devalaraja, Jeffrey L. Goldberg, Qais Zawaydeh, Benjamin Bakall, Pongali B. Raghavendra, J. Fielding Hejtmancik, Angel Soto-Hermida, Bonnie Huang, Paul A. Sieving, Sheikh Riazuddin, Richard G. Weleber, Berzhan Kurmanov, Jason Zhou, Gabriele Richard, Jacque L. Duncan, Shahid Y. Khan, Adda Villanueva, Akhila Alapati, Shyamanga Borooah, Radha Ayyagari, Hiroko Matsui, Luis Alexandre Rassi Gabriel, Andrew Huynh, Naheed W. Khan, John R. Heckenlively
Publikováno v:
PLoS genetics, vol 17, iss 10
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
PLoS Genetics
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
PLoS Genetics
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a8c5b8da8ed5400dee9737837f1c5b
https://escholarship.org/uc/item/8tq9x6bw
https://escholarship.org/uc/item/8tq9x6bw
Publikováno v:
The Journal of Immunology. 202:1057-1068
Autoimmune retinopathy (AIR) is a treatable condition that manifests in acute and progressive vision loss in patients. It has recently been determined that AIR is associated with an imbalance of TH1 versus regulatory T cell immunity toward the retina
Autor:
Richard G. Weleber, Robert Lukowski, M. W. Seeliger, Christina Brennenstuhl, Anne E. Bausch, Xiangang Zong, Sascha Venturelli, John R. Heckenlively, Vithiyanjali Sothilingam, Stylianos Michalakis, Susanne C. Beck, Günther Rudolph, Naoyuki Tanimoto, Ulrich Kellner, Peggy Reuter, Anja K. Mayer, Ditta Zobor, Susanne Kohl, Bernd Wissinger, Gesa Astrid Hahn, Britta Baumann, Paul A. Sieving, Xi-Qin Ding, Nicole Weisschuh, Christian P. Hamel, Martin Biel, Robert K. Koenekoop, Peter Ruth, Peter Charbel Issa, Timm Krätzig, Gesine Huber, Elvir Becirovic, Markus Burkard, Katrin Junger
Publikováno v:
The Journal of clinical investigation, vol 128, iss 12
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩
International audience; Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone functio
Autor:
Robin R. Ali, James W B Bainbridge, Henry Klassen, John G. Flannery, Eric A. Pierce, Elise Heon, Robert S. Molday, Deniz Dalkara, David G. Birch, Thomas A. Reh, Bart P. Leroy, Paul A. Sieving, Alessandro Iannaccone, Vadim Y. Arshavsky, S.P. Daiger, John R. Heckenlively, K. Thiran Jayasundera, Rajesh C. Rao, Kari Branham, José Sahel, Isabelle Audo, Artur V. Cideciyan, Paul Yang, Simon M. Petersen-Jones, Cagri G. Besirli, Abigail T. Fahim, Jacque L. Duncan, Debra A. Thompson, Mark E. Pennesi, David N. Zacks, Roberto Gattegna, Naheed W. Khan, Dror Sharon, David C. Musch, Enrica Strettoi
Publikováno v:
Translational Vision Science & Technology
Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to develop treatments for these blinding conditions at the forefront of the emerging field of precision medicine. As a result, the growth of clinical trials for IRDs
Autor:
John Romano, Gayatri Susarla, Lynn K. Stanwyck, Maria Pefkianaki, Arjun B. Sood, John R. Heckenlively, Weilin Chan, Lucia Sobrin, Steven K. Lundy, Kanishka Thiran Jayasundera
Publikováno v:
Translational Vision Science & Technology
Purpose To determine if immunological markers (1) are significantly different between autoimmune retinopathy (AIR) patients and controls and (2) correlate with disease progression in AIR patients. Methods We enrolled patients with a possible AIR diag