Uchiyama Yuri

ウチヤマユリ | Uchiyama Yuri

Affiliation and department：
Job title：助教
Homepage URL (1)： http://www.yokohama-cu.ac.jp/res_pro/researcher/database.html
Research theme for competitive and other funds (2)：

2021 - 2023 ATMシグナルパスウェイに係る新規遺伝子異常症候群の病態解明
2019 - 2021 Molecular genetic analysis of congenital thrombocytopenia, hemostatic and coagulation disorder

Papers (97)：

Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, et al. Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics. 2024
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics. 2024
Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Nobuyuki Horita, Yohei Kirino, Naomichi Matsumoto. Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply. Rheumatology (Oxford, England). 2023
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, et al. A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities. Journal of human genetics. 2023
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, et al. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of human genetics. 2023

ｍore...

MISC (15)：

Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Hideaki Nakajima, Naomichi Matsumoto. Pathogenic UBA1 Variants in Japanese Patients with Relapsing Polychondritis. ARTHRITIS & RHEUMATOLOGY. 2021. 73. 2292-2293
土田奈緒美, 内山由理, 内山由理, 桐野洋平, 國下洋輔, 峯岸薫, 吉見竜介, 中島秀明, 松本直通. UBA1遺伝子変異を有する新規自己炎症性疾患VEXAS症候群・再発性多発軟骨炎患者の報告. 日本人類遺伝学会大会プログラム・抄録集. 2021. 66th (CD-ROM)
Koji Sasaki, Yuri Uchiyama, Junji Ikeda, Masahiro Yoshitomi, Yuko Shimosato-Wada, Mayu Tokumasu, Hidemasa Matsuo, Kenichi Yoshida, Kentaro Oki, Genki Yamato, et al. The Detection of Minor Clones with Somatic KIT D816V Mutations Using Droplet Digital PCR in Pediatric De Novo AML: AML-05 Trial from the Japanese Pediatric Leukemia/Lymphoma Study Group. BLOOD. 2019. 134
佐々木康二, 柴徳生, 内山由理, 池田順治, 吉富誠弘, 下里侑子, 徳舛麻友, 松尾英将, 吉田健一, 大木健太郎, et al. 小児急性骨髄性白血病におけるKIT D816V変異を有するマイナークローンの検出(The detection of minor clones with somatic KIT D816V mutations in pediatric de novo AML). 臨床血液. 2018. 59. 9. 1506-1506
宮田世羽, 内野俊平, 熊田聡子, 下田木の実, 内山由理, 眞下秀明, 西田裕哉, 白井育子, 栗原栄二, 松本直通. 脳深部刺激療法が有効であった脳内鉄沈着を伴う神経変性症の男児同胞例. 脳と発達. 2018. 50. 3. 216-216

ｍore...

Professional career (1)：

医学博士 (群馬大学)

Awards (1)：

2021/05 - 日本血栓止血学会第43回日本血栓止血学会学術集会優秀ポスター賞

※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

Return to Previous Page