日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Not All Rhinitis Follows the Atopic March: Early-Life Risk Factors and Implications of Infectious Disease Across Three Phenotypes in JECS Cohort

并非所有鼻炎都遵循特应性进程:早期生活风险因素及传染病对 JECS 队列中三种表型的影响

Harama, Daisuke; Saito-Abe, Mayako; Pak, Kyongsun; Iwamoto, Shintaro; Sato, Miori; Miyaji, Yumiko; Sakamoto, Kei; Mezawa, Hidetoshi; Nishizato, Minaho; Yang, Limin; Kumasaka, Natsuhiko; Ohya, Yukihiro; Fukami, Maki; Yamamoto-Hanada, Kiwako

Parental Age and Childhood Allergy Risk

父母年龄与儿童过敏风险

Yamamoto-Hanada, Kiwako; Harama, Daisuke; Sato, Miori; Miyaji, Yumiko; Sakamoto, Kei; Nishizato, Minaho; Yang, Limin; Kumasaka, Natsuhiko; Mezawa, Hidetoshi; Iwamoto, Shintaro; Pak, Kyongsun; Nishizawa, Tomoki; Nadeau, Kari C; Fukami, Maki; Ohya, Yukihiro

A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions

母源外显子H剪接位点变异导致假性甲状旁腺功能减退症1B型,伴有GNAS差异甲基化区域的广泛甲基化缺陷

Urakawa, Tatsuki; Huang, Haipeng; Nagai, Takuhito; Hattori, Atsushi; Kawasaki, Tomoyuki; Saitsu, Hirotomo; Akutsu, Hidenori; Fukami, Maki; Kagami, Masayo

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site

通过长读长测序分析揭示了贝克威思-威德曼综合征患者H19/IGF2:IG-DMR区域的甲基化谱特征,这些患者的OCT4/SOX2结合位点存在缺陷。

Masubuchi, Hayate; Urakawa, Tatsuki; Kosaki, Rika; Nishimura, Riki; Wada, Yasunori; Dateki, Sumito; Yagasaki, Hideaki; Kagawa, Reiko; Nishimura, Yutaka; Soejima, Hidenobu; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome

一种与周期性斜视相关的新型 OPHN1 变异体,但并不伴有 OPHN1 综合征。

Nishina, Sachiko; Kofuji, Satoshi; Matsubara, Keiko; Anzai, Hazuki; Hirakata, Kyoko; Hanazono, Yuya; Okamoto-Uchida, Yoshimi; Hirayama, Jun; Ito, Nobutoshi; Fukami, Maki; Nishina, Hiroshi

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome

新型双等位基因 CDK9 变异与视网膜营养不良相关,但不伴有 CHARGE 样畸形综合征

Nishina, Sachiko; Torii, Kaoruko; Ishitani, Shizuka; Yoshida, Tomoyo; Fukami, Maki; Kurosawa, Kenji; Kosaki, Kenjiro; Saitsu, Hirotomo; Ishitani, Tohru; Hotta, Yoshihiro

Chromosomal and hormonal factors involved in human sexual dimorphism

人类性二态性涉及的染色体和激素因素

Fukami, Maki; Okamura, Kohji; Sasaki, Shoko; Kagami, Masayo; Dateki, Sumito

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature

一家族性非综合征性矮小症中发现亚显微16q24.2-q24.3缺失

Narita, Chisato; Utsunomiya, Hidekazu; Hamada, Junpei; Kageyama, Ikuko; Fukami, Maki; Nakamura, Akie

A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes

一种用于评估差异甲基化区域和印记紊乱相关基因DNA甲基化的综合性长读长测序系统

Urakawa, Tatsuki; Hattori, Atsushi; Ogiwara, Yasuko; Masubuchi, Hayate; Igarashi, Mizuho; Nakamura, Sayuri; Hara-Isono, Kaori; Ishiwata, Keisuke; Ogata-Kawata, Hiroko; Kamura, Hiromi; Kuroki, Yoko; Nakabayashi, Kazuhiko; Fukami, Maki; Kagami, Masayo

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients

颞叶综合征:对60名经基因确诊的日本患者进行的全面临床研究

Ogawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo