Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Autor: Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari

Publikováno v: PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)

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://doaj.org/article/100510e296874924a61b4222d50d1e2c

Electroretinographic findings in transplant chorioretinopathy

Autor: Brian T Chan-Kai, Steven Yeh, Richard G Weleber, et al

Publikováno v: Clinical Ophthalmology, Vol 2010, Iss default, Pp 777-783 (2010)

Brian T Chan-Kai1, Steven Yeh2, Richard G Weleber2, Peter J Francis2, Grazyna Adamus2, S Robert Witherspoon3, Andreas K Lauer11Cullen Eye Institute, Baylor College of Medicine, Houston, Texas; 2Casey Eye Institute, Oregon Health and Science Universit

Externí odkaz: https://doaj.org/article/0b4becdb0a90422c8a9d2bf8b493bc1a

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Autor: Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger

Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200

Externí odkaz: https://doaj.org/article/3266adb14a06463ea339fc8ac073fe8e

Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated Stargardt disease: an open-label dose-escalation phase I/IIa clinical trial, cohorts 1-5

Autor: Maria A. Parker, Laura R. Erker, Isabelle Audo, Dongseok Choi, Saddek Mohand-Said, Kastytis Sestakauskas, Patrick Benoit, Terence Appelqvist, Melissa Krahmer, Caroline Ségaut-Prévost, Brandon J. Lujan, Ambar Faridi, Elvira N. Chegarnov, Peter N. Steinkamp, Cristy Ku, Mariana Matioli da Palma, Pierre-Olivier Barale, Sarah Ayelo-Scheer, Andreas Lauer, Tim Stout, David J. Wilson, Richard G. Weleber, Mark E. Pennesi, José Alain Sahel, Paul Yang

Publikováno v: Am J Ophthalmol

PURPOSE: To report on the safety of the first five cohorts of a gene therapy trial using recombinant equine infectious anemia virus expressing ABCA4 (EIAV-ABCA4) in adults with Stargardt Dystrophy (SD) due to mutations in ABCA4. DESIGN: Nonrandomized

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea46289d9bb8c140ffe8c9b8f6ea8180
https://europepmc.org/articles/PMC9308722/

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

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

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