Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Kanako Kawai"'
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Akademický článek
Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.
Autor: Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda
Publikováno v: PLoS ONE, Vol 19, Iss 6, p e0305812 (2024)
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy and a major cause of blindness. RP is caused by several variants of multiple genes, and genetic diagnosis by identifying these variants is important for optimizing treatment and
Externí odkaz: https://doaj.org/article/d117b69078c4403dac3f87d40a2bb985
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2
Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population
Autor: Akira, Inaba, Akiko, Yoshida, Akiko, Maeda, Kanako, Kawai, Shinji, Kosugi, Masayo, Takahashi
Publikováno v: Journal of Genetic Counseling. 31:860-867
Inherited retinal disease (IRD) is clinically and genetically heterogeneous. Awareness of the importance of genetic testing for IRD in the clinical setting is increasing with the recent development of new therapeutic strategies, such as gene therapy.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73b05ba1b5ed1055fe2c088786f35a4
https://doi.org/10.1002/jgc4.1556
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3
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients
Autor: Shinji Kosugi, Masayo Takahashi, Akira Inaba, Kanako Kawai, Yasuo Kurimoto, Yasuhiko Hirami, Akiko Maeda, Akiko Yoshida
Publikováno v: International Journal of Molecular Sciences
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 7817, p 7817 (2020)
USH2A is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in USH2A can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with imp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27b527de8d02f235815b41ff755049f8
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4
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in
Autor: Akira, Inaba, Akiko, Maeda, Akiko, Yoshida, Kanako, Kawai, Yasuhiko, Hirami, Yasuo, Kurimoto, Shinji, Kosugi, Masayo, Takahashi
Publikováno v: International Journal of Molecular Sciences
USH2A is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in USH2A can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with imp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f5bd98e7ba99a7868da2aa034adcfc3
https://pubmed.ncbi.nlm.nih.gov/33105608
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5
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
Autor: Masayo Takahashi, Ryoji Fujiki, Yasuo Kurimoto, Seiji Takagi, Akiko Yoshida, Osamu Ohara, Akira Inaba, Kanako Kawai, Ryutaro Akiba, Akiko Maeda, Yuki Arai, Yasuhiko Hirami
Publikováno v: Japanese Journal of Ophthalmology. 62:451-457
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d0a9df2a90b092bab224ab6b5f59b11
https://doi.org/10.1007/s10384-018-0601-x
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Plný text Recenzováno Digitální knihovna AV ČR
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