Masayo Kagami

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 18

Top Venues

Clinical epigenetics

Clinical case reports

Journal of medical genetics

European journal of endocrinology

This page only lists publications with an associated author ORCID identifier.

Publications

Tatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, Akie Nakamura, Hirohito Shima, Motoki Ohta, Yuki Yamada, Ai Nishida, Hiromune Narusawa, Yoshiaki Ohtsu, Keiko Matsubara, Sumito Dateki, Yoshihiro Maruo, Maki Fukami, Tsutomu Ogata, Masayo Kagami
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. European journal of endocrinology (2023)
Sayaka Kawashima, Akiko Yuno, Shinichiro Sano, Akie Nakamura, Keisuke Ishiwata, Tomoyuki Kawasaki, Kazuyoshi Hosomichi, Kazuhiko Nakabayashi, Hidenori Akutsu, Hirotomo Saitsu, Maki Fukami, Takeshi Usui, Tsutomu Ogata, Masayo Kagami
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (10) (2022)
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Hara-Isono, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. Journal of human genetics 67 (10) (2022)
Kaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, Eriko Nishi, Maki Fukami, Masayo Kagami
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1 :TSS-DMR. Journal of medical genetics 59 (12) (2022)
Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, Takanobu Inoue, Sayaka Kawashima, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders. The Journal of clinical endocrinology and metabolism 107 (8) (2022)
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Human genome variation 9 (1) (2022)
Sayaka Kawashima, Atsushi Hattori, Erina Suzuki, Keiko Matsubara, Machiko Toki, Rika Kosaki, Yukihiro Hasegawa, Kazuhiko Nakabayashi, Maki Fukami, Masayo Kagami
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements. Clinical epigenetics 13 (1) (2021)
Masayo Kagami, Kaori Hara-Isono, Keiko Matsubara, Kazuhiko Nakabayashi, Satoshi Narumi, Maki Fukami, Yumiko Ohkubo, Hirotomo Saitsu, Shuji Takada, Tsutomu Ogata
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clinical epigenetics 13 (1) (2021)
Sayaka Kawashima, Hiroko Yagi, Yasuhiro Hirano, Machiko Toki, Kei Izumi, Sumito Dateki, Noriyuki Namba, Tsutomu Kamimaki, Koji Muroya, Toshiaki Tanaka, Maki Fukami, Masayo Kagami, null null
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. Journal of pediatric endocrinology & metabolism : JPEM 33 (10) (2020)
Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, Masayo Kagami
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. Journal of medical genetics 58 (6) (2020)
Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Clinical case reports 8 (6) (2020)
Kaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, Kazuki Yamazawa, Kazuhito Satou, Nobuyuki Murakami, Shinji Saitoh, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clinical epigenetics 12 (1) (2020)
Kaori Hara-Isono, Keiko Matsubara, Masashi Mikami, Takahiro Arima, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. Clinical epigenetics 12 (1) (2020)
Takanobu Inoue, Akie Nakamura, Megumi Iwahashi-Odano, Kanako Tanase-Nakao, Keiko Matsubara, Junko Nishioka, Yoshihiro Maruo, Yukihiro Hasegawa, Hiroshi Suzumura, Seiji Sato, Yoshiyuki Kobayashi, Nobuyuki Murakami, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Satoshi Narumi, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 12 (1) (2020)
Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami, Tsutomu Ogata
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clinical epigenetics 11 (1) (2019)
Takuro Kimura, Masayo Kagami, Keiko Matsubara, Shuichi Yatsuga, Rio Mukasa, Chiho Yatsuga, Takako Matsumoto, Yasutoshi Koga
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. Clinical case reports 7 (1) (2018)
Marte G Haug, Atle Brendehaug, Gunnar Houge, Masayo Kagami, Tsutomu Ogata
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clinical case reports 6 (1) (2017)
Takanobu Inoue, Akie Nakamura, Keiko Matsubara, Hiromi Nyuzuki, Keisuke Nagasaki, Akira Oka, Maki Fukami, Masayo Kagami
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 173 (10) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Masayo Kagami