Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jessica K. Niggel"'
Autor:
Leonardo Murgiano, Jessica K. Niggel, Leontine Benedicenti, Matteo Cortellari, Arianna Bionda, Paola Crepaldi, Luigi Liotta, Geoffrey K. Aguirre, William A. Beltran, Gustavo D. Aguirre
Publikováno v:
Genes, Vol 15, Iss 2, p 238 (2024)
While the manifestations of many inherited retinal disorders are limited to loss of vision, others are part of a syndrome that affects multiple tissues, particularly the nervous system. Most syndromic retinal disorders are thought to be recessively i
Externí odkaz:
https://doaj.org/article/697de4d93eb54a14a1e7b8f2b2589ed3
Autor:
Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 425-437 (2019)
Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to pr
Externí odkaz:
https://doaj.org/article/b360b93802cd41f18edb473e292b5ad5
Publikováno v:
Vet Ophthalmol
OBJECTIVE To conduct a genetic and candidate gene association study with samples from phenotype-ascertained dogs to identify putative disease-associated gene/mutation for optic nerve hypoplasia (ONH) in the miniature poodle. ANIMALS STUDIED A total o
Autor:
Sue Pearce-Kelling, Gustavo D. Aguirre, Vidhya Jagannathan, Leonardo Murgiano, Kendall Carlin, Evelyn Santana, Doreen Becker, Courtney Spector, Jessica K. Niggel, Keiko Miyadera, Tosso Leeb
Publikováno v:
Scientific Reports
Murgiano, Leonardo; Becker, Doreen; Spector, Courtney; Carlin, Kendall; Santana, Evelyn; Niggel, Jessica K; Jagannathan, Vidya; Leeb, Tosso; Pearce-Kelling, Sue; Aguirre, Gustavo D; Miyadera, Keiko (2020). CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Scientific reports, 10(1), p. 21162. Springer Nature 10.1038/s41598-020-77980-5
Murgiano, Leonardo; Becker, Doreen; Spector, Courtney; Carlin, Kendall; Santana, Evelyn; Niggel, Jessica K; Jagannathan, Vidya; Leeb, Tosso; Pearce-Kelling, Sue; Aguirre, Gustavo D; Miyadera, Keiko (2020). CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Scientific reports, 10(1), p. 21162. Springer Nature 10.1038/s41598-020-77980-5
Aberrant photoreceptor function or morphogenesis leads to blinding retinal degenerative diseases, the majority of which have a genetic aetiology. A variant in PRCD previously identified in Portuguese Water Dogs (PWDs) underlies prcd (progressive rod-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68617d608d2032b1d706d9654f5a0d10