Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kaori Miyana"'
Autor:
Tomomi Ogata, Kazuhiro Muramatsu, Kaori Miyana, Hiroshi Ozawa, Motoki Iwasaki, Hirokazu Arakawa
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however,
Externí odkaz:
https://doaj.org/article/5deede180c984629bc6413213f365a27
Autor:
Kumiko Yanagi, Jonathan Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Kazuhito Satou, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Tadashi Kaname
Publikováno v:
Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bf433626a0f20216b5bb0f12689eeb0
https://doi.org/10.1038/s10038-023-01130-8
https://doi.org/10.1038/s10038-023-01130-8
Autor:
Kaori Miyana, Matsumoto Ayumi, Masaya Kubota, Itaru Hayakawa, Kazuhiro Muramatsu, Jin Muromoto
Publikováno v:
Journal of Fetal Medicine. :151-155
Twin-to-twin transfusion syndrome (TTTS) is a severe gestational complication due to an imbalance of blood flow between monochorionic diamniotic twins. TTTS can cause brain damage, most commonly ischemic lesions, but there are only a few reports of c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef048a670372c923e2feb3c68f5997d2
https://doi.org/10.1007/s40556-021-00304-8
https://doi.org/10.1007/s40556-021-00304-8
Autor:
Kaori Miyana, Motoki Iwasaki, Hirokazu Arakawa, Hiroshi Ozawa, Kazuhiro Muramatsu, Tomomi Ogata
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
BMC Pediatrics
BMC Pediatrics
BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however, data on t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63654d0d5db19d772ffc429cc396318
https://doi.org/10.21203/rs.3.rs-24646/v2
https://doi.org/10.21203/rs.3.rs-24646/v2
Autor:
Tomomi Ogata, Kazuhiro Muramatsu, Kaori Miyana, Hiroshi Ozawa, Motoki Iwasaki, Hirokazu Arakawa
Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however, data on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97e43e4bc607764c990c40df61c3eb2e
https://doi.org/10.21203/rs.3.rs-24646/v1
https://doi.org/10.21203/rs.3.rs-24646/v1
Autor:
Rachel Schot, Soma Das, Gisele E. Ishak, Andrea Hanson-Kahn, Marjon van Slegtenhorst, Arthur Lee, William B. Dobyns, Jonathan A. Bernstein, Kimberly A. Aldinger, Frans W. Verheijen, Felice D'Arco, Dan Doherty, Martina Wilke, Laura Vandervore, Esmee Kasteleijn, Ghayda M. Mirzaa, Joyce Kobori, Marsha M. Wheeler, Katherine R. Chao, Lucinda Carr, Elizabeth C. Engle, Tetsuya Okazaki, Yoshiaki Saito, Andrew E. Timms, Marjolein H G Dremmen, Krzysztof Szczałuba, Michael J. Bamshad, Megan E. Grout, Kaori Miyana, Grazia M.S. Mancini, Brenda J. Barry, Deborah A. Nickerson, Masayuki Sasaki
Publikováno v:
American Journal of Human Genetics, 103(6), 1009-1021. Cell Press
To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem hypoplasia. During a multicenter review, we recognized a rare lissencephaly variant with a comple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffbb3be6c1c17f6f2b8ba4840be27cc
https://biblio.vub.ac.be/vubir/macf1-mutations-encoding-highly-conserved-zincbinding-residues-of-the-gar-domain-cause-defects-in-neuronal-migration-and-axon-guidance(75507f8c-20c7-4001-9b37-f7506e94c546).html
https://biblio.vub.ac.be/vubir/macf1-mutations-encoding-highly-conserved-zincbinding-residues-of-the-gar-domain-cause-defects-in-neuronal-migration-and-axon-guidance(75507f8c-20c7-4001-9b37-f7506e94c546).html