Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth D, Cadena"'
Autor:
Stephen P, Daiger, Lori S, Sullivan, Sara J, Bowne, Elizabeth D, Cadena, Dan, Koboldt, Kinga M, Bujakowska, Eric A, Pierce
Publikováno v:
Advances in experimental medicine and biology. 1185
Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85% of patients with inherited retinal diseases (IRDs), depending on the methods used, disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e28eb3038b519a4652dca325e1332bbd
https://pubmed.ncbi.nlm.nih.gov/31884611
https://pubmed.ncbi.nlm.nih.gov/31884611
Autor:
Sara J. Bowne, Stephen P. Daiger, Lori S. Sullivan, Eric A. Pierce, Elizabeth D. Cadena, Kinga M. Bujakowska, Daniel C. Koboldt
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783030273774
Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85% of patients with inherited retinal diseases (IRDs), depending on the methods used, disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1f9dbb233dd21216e8d18e1b0161190
https://doi.org/10.1007/978-3-030-27378-1_32
https://doi.org/10.1007/978-3-030-27378-1_32
Autor:
Sara J. Bowne, Kari Branham, Dianna K. Wheaton, Kaylie D. Jones, Stephen P. Daiger, Cheryl E. Avery, Elizabeth D. Cadena, David G. Birch, Lori S. Sullivan, John R. Heckenlively
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783319754017
Genetic testing of probands in families with an initial diagnosis of autosomal dominant retinitis pigmentosa (adRP) usually confirms the diagnosis, but there are exceptions. We report results of genetic testing in a large cohort of adRP families with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc2334bdbe200c2309eac60b11227175
https://doi.org/10.1007/978-3-319-75402-4_29
https://doi.org/10.1007/978-3-319-75402-4_29
Autor:
Daniel C. Koboldt, Lori S. Sullivan, Richard K. Wilson, Robert K. Koenekoop, David G. Birch, Susan H. Blanton, Cheryl E. Avery, Dianna K. Wheaton, Elizabeth D. Cadena, Robert S. Fulton, Stephen P. Daiger, Sara J. Bowne, Richard A. Lewis, George M. Weinstock
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783319171203
Whole-genome linkage mapping identified a region on chromosome 10q21.3-q22.1 with a maximum LOD score of 3.0 at 0 % recombination in a six-generation family with autosomal dominant retinitis pigmentosa (adRP). All known adRP genes and X-linked RP gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333f96e08c23fdc1537a5d7ddc493b19
https://europepmc.org/articles/PMC4906966/
https://europepmc.org/articles/PMC4906966/