Zobrazeno 1 - 10 of 286 pro vyhledávání: '"Masumi, Ishikawa"'
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Akademický článek
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Autor: Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100643- (2020)
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by
Externí odkaz: https://doaj.org/article/da7aa63db0994ed9abb3d5997d5b9ff5
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2
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)
Autor: Kosuke Mochida, Anne Slavotinek, Roberto Mendoza-Londono, Parul Jayakar, Kiyoshi Kikkawa, Luis E. Figuera, Andreas R. Janecke, Hiroko Morisaki, Takaya Nakane, Nicol C. Voermans, Delfien Syx, Tetsuyuki Kobayashi, Tomoko Kobayashi, Toshihiro Ohura, Klaas J. Wierenga, Tomomi Yamaguchi, Takayuki Morisaki, Mari Minatogawa, Michihiro Kono, William A. Gahl, Judith D. Ranells, Ai Unzaki, Tomoki Kosho, Cynthia J. Tifft, Yoko Aoki, Masumi Ishikawa, Ohsuke Migita, Akiharu Kubo, Naomichi Matsumoto, Fransiska Malfait, Chiho Tokorodani, Yves Lacassie, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Glenda Sobey, Noriko Miyake, Ken Ishikawa, Anupriya Kaur, Hiroshi Kawame
Publikováno v: Journal of Medical Genetics, 59, 9, pp. 865-877
Journal of Medical Genetics, 59, 865-877
Journal of Medical Genetics, 59(9), 865-877. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, ' Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) ', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877 . https://doi.org/10.1136/jmedgenet-2020-107623
BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d298fb5f42a456694aa45a947844ec
https://hdl.handle.net/2066/287515
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3
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of
Autor: Yasufumi, Kondo, Tsuneaki, Yoshinaga, Katsuya, Nakamura, Tomomi, Yamaguchi, Masumi, Ishikawa, Tomoki, Kosho, Yoshiki, Sekijima
Publikováno v: Neurology. Genetics. 9(1)
To investigate the clinical effect of a heterozygous missense variant ofWe performed clinical, laboratory, radiologic, and genetic evaluations of members of a previously reported family with cerebral autosomal recessive arteriopathy with subcortical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb745501dacc9c9686861c60f2eeeec2
https://pubmed.ncbi.nlm.nih.gov/36530220
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Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing
Autor: Masahiko Kurabayashi, Kenji Okada, Tomomi Yamaguchi, Rie Kawamura, Norimichi Koitabashi, Ryuichi Funada, Masumi Ishikawa, Kazuyoshi Toda, Atsushi Hatamochi, Tomoki Kosho, Takahide Nakano, Daisuke Fukui, Atsushi Umeyama
Publikováno v: International Heart Journal. 59:1180-1185
Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c1db7faaf4c39e51a6a85762739d217
https://doi.org/10.1536/ihj.17-451
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6
A Normalized Index to Quantify Publication Productivity across Disciplinary Boundaries
Autor: Koh Yamamoto, Masumi Ishikawa
Publikováno v: International Journal of Institutional Research and Management. 1:67-81
The number of papers and number of citations have been widely used as indices for research capability in various situations, such as the comparison of research institutions and performance evaluation of researchers. However, it is well known that the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bd15b8aa2463f540e1b71bb2a328b262
https://doi.org/10.52731/ijirm.v1.i1.114
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7
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Autor: Mari Iijima, Yoshihiko Sato, Hitomi Nishizawa, Kyoko Takano, Yuko Arakawa, Atsushi Watanabe, Tomoyuki Akiyama, Tomoki Kosho, Masumi Ishikawa
Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100643-(2020)
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b447db2ce98b3d7583f46a3bb13debe3
https://ousar.lib.okayama-u.ac.jp/61035
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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Autor: Tomomi Yamaguchi, Keiko Wakui, Kunihiro Yoshida, Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa, Kyoko Takano, Yoshimitsu Fukushima, Tomoki Kosho, Yoshiki Sekijima
Publikováno v: Human Genome Variation. 4
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e7ef3d41b4c11288960ee0cfc4ee3b2
https://doi.org/10.1038/hgv.2017.52
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A novel frameshift mutation of
Autor: Tsuneaki, Yoshinaga, Katsuya, Nakamura, Masumi, Ishikawa, Tomomi, Yamaguchi, Kyoko, Takano, Keiko, Wakui, Tomoki, Kosho, Kunihiro, Yoshida, Yoshimitsu, Fukushima, Yoshiki, Sekijima
Publikováno v: Human Genome Variation
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::91ce5643a63a77894b9ab8b280bf9462
https://pubmed.ncbi.nlm.nih.gov/29081981
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