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Papers (117)
- 永田 浩一, 浜田 奈々子, 西條 琢真, 上原 朋子, 武内 俊樹, 小崎 健次郎, 水野 誠司. CEP152変異マウスを用いたSeckel症候群の病態メカニズムの解明. 脳と発達. 2024. 56. Suppl. S207-S207
- Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A. 2024. e63614
- Takeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, Rie Kawamura, Mariko Taniguchi-Ikeda, Seiji Mizuno, Yukako Muramatsu, Ikuya Tsuge, Hirofumi Ohashi, Nakamichi Saito, et al. Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm. Human genetics. 2023
- 浜田 奈々子, 西條 琢磨, 上原 朋子, 武内 俊樹, 小崎 健次郎, 水野 誠司, 永田 浩一. 細胞周期制御遺伝子群の異常を原因とする小頭症と発達障害の病態メカニズム解析. 日本小児科学会雑誌. 2023. 127. 2. 181-181
- Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh. Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics. 2022. 68. 2. 111-112
- Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh. Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction. Journal of human genetics. 2022. 68. 2. 87-90
- 小野 智愛, 新堀 哲也, 深見 真紀, 黒澤 健司, 大橋 博文, 岡本 伸彦, 水野 誠司, 緒方 勤, 松原 洋一, 津幡 真理, et al. Noonan症候群類縁疾患を有する児を育てる養育者の心理社会的側面に関する実態調査. 日本遺伝カウンセリング学会誌. 2022. 43. 3. 143-154
- Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, et al. Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome. Journal of medical genetics. 2022. 60. 4. 359-367
- 稲葉 美枝, 長倉 正宗, 上原 朋子, 小崎 健次郎, 水野 誠司. 頭蓋骨早期癒合症と成長障害を伴う多発奇形先天異常症候群にCDC45複合ヘテロ接合性変異を同定したMeier-Gorlin症候群の1男児例. 日本小児科学会雑誌. 2022. 126. 2. 374-374
- Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, Tomoko Uehara, Kumiko Yanagi, Yuiko Hasegawa, Kimiko Ueda, Seiji Mizuno, Tadashi Kaname, Kenjiro Kosaki, et al. The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. American journal of medical genetics. Part A. 2022. 188. 2. 446-453
- Tasuku Mariya, Takema Kato, Takeshi Sugimoto, Syunsuke Miyai, Hidehito Inagaki, Tamae Ohye, Eiji Sugihara, Yukako Muramatsu, Seiji Mizuno, Hiroki Kurahashi. Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. Journal of human genetics. 2022. 67. 6. 363-368
- Daisuke Ichikawa, Kyoko Yamashita, Yusuke Okuno, Hideki Muramatsu, Norihiro Murakami, Kyogo Suzuki, Daiei Kojima, Shinsuke Kataoka, Motoharu Hamada, Rieko Taniguchi, et al. Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas. NPJ genomic medicine. 2021. 6. 1. 49-49
- Yoshihiro Nishida, Kunihiro Ikuta, Atsushi Natsume, Naoko Ishihara, Maki Morikawa, Hiroyuki Kidokoro, Yukako Muramatsu, Norie Nonobe, Kanako Ishizuka, Takuya Takeichi, et al. Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital. Scientific reports. 2021. 11. 1. 11933-11933
- 小野 智愛, 新堀 哲也, 深見 真紀, 黒澤 健司, 大橋 博文, 岡本 伸彦, 水野 誠司, 緒方 勤, 松原 洋一, 津幡 真理, et al. Noonan症候群類縁疾患を有する子どもの療養生活及び養育者の心理社会的側面に関する実態調査. 日本遺伝カウンセリング学会誌. 2021. 42. 2. 55-55
- Kohji Kato, Fuyuki Miya, Yasuyoshi Oka, Seiji Mizuno, Shinji Saitoh. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Journal of human genetics. 2021. 66. 5. 491-498
- Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido, Noriko Nomura, Yoshihito Tokita, Shin Hayashi, Seiji Mizuno, Kenichiro Yamada, et al. R3HDM1 haploinsufficiency is associated with mild intellectual disability. American Journal of Medical Genetics Part A. 2021
- Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, et al. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in Medicine. 2021
- Yuri A Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna-Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, et al. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genetics in medicine : official journal of the American College of Medical Genetics. 2021. 23. 6. 1050-1057
- Hisato Suzuki, Mie Inaba, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki, Motomichi Doi. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. American journal of medical genetics. Part A. 2020. 185. 4. 1182-1186
- Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa, Hideki Muramatsu, Yusuke Okuno, Koichiro Higasa, Mayuko Shimada, Honoka Takeshima, Katsuhiro Hanada, Taichi Hirano, et al. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Science Advances. 2020. 6. 51. eabd7197-eabd7197
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