Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Fuyuki Hasegawa"'
Autor:
Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been thoroughly characterized. We identified d
Externí odkaz:
https://doaj.org/article/f328667ec5474d7ab76dccc3d414bfa8
Autor:
Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the
Externí odkaz:
https://doaj.org/article/2fed5a9f859a47749916e70e75d621e2
Autor:
Saki Aoto, Mayumi Hangai, Hitomi Ueno-Yokohata, Aki Ueda, Maki Igarashi, Yoshikazu Ito, Motoko Tsukamoto, Tomoko Jinno, Mika Sakamoto, Yuka Okazaki, Fuyuki Hasegawa, Hiroko Ogata-Kawata, Saki Namura, Kazuaki Kojima, Masao Kikuya, Keiko Matsubara, Kosuke Taniguchi, Kohji Okamura
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Deep learning has rapidly been filtrating many aspects of human lives. In particular, image recognition by convolutional neural networks has inspired numerous studies in this area. Hardware and software technologies as well as large quantiti
Externí odkaz:
https://doaj.org/article/8e81eedb074040c79c3a2caf7c9ee8f6
Autor:
Hidetaka Uryu, Ohsuke Migita, Minami Ozawa, Chikako Kamijo, Saki Aoto, Kohji Okamura, Fuyuki Hasegawa, Torayuki Okuyama, Motomichi Kosuga, Kenichiro Hata
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100921- (2022)
Fabry disease is a congenital lysosomal storage disease, and most of these cases develop organ damage in middle age. There are some promising therapeutic options for this disorder, which can stabilize the progression of the disease. However, a long d
Externí odkaz:
https://doaj.org/article/4b495fea4fb14888adde95bf19734d62
Autor:
Miyuki Nishiyama, Seiji Wada, Fuyuki Hasegawa, Yohji Uehara, Mamoru Ozaki, Kenichiro Hata, Yushi Ito, Haruhiko Sago
Publikováno v:
Clinical Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Confined placental mosaicism (CPM) leads to discordant noninvasive prenatal testing (NIPT) results. We describe a very rare case of CPM of trisomy 6 detected through genome‐wide NIPT. This case was associated with placental abruption, whic
Externí odkaz:
https://doaj.org/article/d973c62648d14df5b04f7fb71a8feb71
Autor:
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata-Kawata, Saki Aoto, Osuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata
BackgroundWhole-exome sequencing (WES) is a strong diagnostic tool for foetal structural anomalies, but the causative gene for more than half the anomalies have not been identified. Therefore, improving the diagnostic yield based on WES data is essen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f274e9e45f2a92bd2cd5c67ec08c653
https://doi.org/10.1101/2023.02.05.23285039
https://doi.org/10.1101/2023.02.05.23285039
Autor:
Aiko Sasaki, Fuyuki Hasegawa, Haruhiko Sago, Seiji Wada, Kohei Ogawa, Rina Akaishi, Miyuki Nishiyama
Publikováno v:
J Community Genet
The increasing prevalence of advanced paternal age (APA) has mirrored the rise in maternal age. APA is associated with an increased risk of de novo pathogenic single-nucleotide variants, but this topic has been much less frequently discussed than adv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9bcc99fd024461413a5912b1197db96
https://doi.org/10.1007/s12687-021-00555-y
https://doi.org/10.1007/s12687-021-00555-y
Autor:
Patricia Winters, Kirsten J. Curnow, Alexandra Benachi, Maria Mar Gil, Belen Santacruz, Miyuki Nishiyama, Fuyuki Hasegawa, Haruhiko Sago
Publikováno v:
Journal of community genetics. 13(4)
In this study, we wanted to assess the impact of the use of a patient educational app on patient knowledge about noninvasive prenatal testing (NIPT) and preparedness for prenatal screening decision-making. A randomized control study was carried out a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6524cbb87bef0ddc3ed10a648022a706
https://pubmed.ncbi.nlm.nih.gov/35680723
https://pubmed.ncbi.nlm.nih.gov/35680723
Autor:
Aiko Sasaki, Rina Akaishi, Yuki Sekido, Yoshiyuki Tachibana, Fuyuki Hasegawa, Haruhiko Sago, Nobuaki Ozawa, Miyuki Nishiyama, Kohei Ogawa, Nagayoshi Umehara, Seiji Wada
Publikováno v:
Journal of Human Genetics
In-person models of genetic counseling (GC) have been the common method in Japan for pregnant women to receive GC. However, recent increases in the number of pregnant women considering undergoing prenatal testing have made it challenging to retain in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6289fa3a9332c45d22c599c0bede25e
https://pubmed.ncbi.nlm.nih.gov/33486503
https://pubmed.ncbi.nlm.nih.gov/33486503
Autor:
Yoshikazu Ito, Kohji Okamura, Maki Igarashi, Saki Namura, Hitomi Ueno-Yokohata, Fuyuki Hasegawa, Hiroko Ogata-Kawata, Aki Ueda, Masao Kikuya, Mika Sakamoto, Kazuaki Kojima, Keiko Matsubara, Kosuke Taniguchi, Motoko Tsukamoto, Yuka Okazaki, Tomoko Jinno, Mayumi Hangai, Saki Aoto
Publikováno v:
Scientific reports. 12(1)
Deep learning has rapidly been filtrating many aspects of human lives. In particular, image recognition by convolutional neural networks has inspired numerous studies in this area. Hardware and software technologies as well as large quantities of dat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bc473ef42dbd533257cecc963541f5
https://pubmed.ncbi.nlm.nih.gov/35260616
https://pubmed.ncbi.nlm.nih.gov/35260616