Kazuki Yamazawa

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Venues

Journal of human genetics

Human genome variation

American journal of medical genetics. Part A

Journal of medical genetics

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

Publications

Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya, Takeyuki Sugawara, Hiroyuki Sakagami, Kazuki Yamazawa
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations. Journal of human genetics (2024)
Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya, Takeyuki Sugawara, Hiroyuki Sakagami, Kazuki Yamazawa
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations. Journal of human genetics 69 (3-4) (2024)
Moeko Nakashima, Tomoko Shiroshima, Masahiro Fukaya, Takeyuki Sugawara, Hiroyuki Sakagami, Kazuki Yamazawa
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations. Journal of human genetics 69 (3-4) (2024)
Kazuki Yamazawa, Kokichi Sugano, Kohji Tanakaya, Satomi Inoue, Haruka Murakami, Moeko Nakashima, Masataka Adachi, Shinya Oki, Takeshi Makabe, Hiroshi Yamashita, Arisa Ueki, Ayako Sasaoka, Ayako Nakashoji, Takayuki Kinoshita, Tatsuo Matsunaga, Masami Arai, Seigo Nakamura, Hiroaki Miyata, Masachika Ikegami, Hiroyuki Mano, Shinji Kohsaka, Akira Matsui
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition. Cancer science (2023)
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)
Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population. Human genome variation 9 (1) (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)
Yasuto Yagi, Naoko Abeto, Junichi Shiraishi, Chieko Miyata, Satomi Inoue, Haruka Murakami, Moeko Nakashima, Kokichi Sugano, Mineko Ushiama, Teruhiko Yoshida, Kazuki Yamazawa
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma. Human genome variation 9 (1) (2022)
Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder. Human genome variation 8 (1) (2021)
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)
Aiko Isobe, Naonori Maeda, Hisayo Fujita, Sari Banno, Tomoka Kageyama, Naomi Hatabu, Rieko Sato, Eri Suzuki, Masashi Miharu, Osamu Komiyama, Moeko Nakashima, Tatsuo Matsunaga, Gen Nishimura, Kazuki Yamazawa
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2. American journal of medical genetics. Part A 185 (3) (2020)
Nobuhiro Hashimoto, Sumito Dateki, Eri Suzuki, Takatoshi Tsuchihashi, Aiko Isobe, Sari Banno, Tomoka Kageyama, Naonori Maeda, Naomi Hatabu, Rieko Sato, Masashi Miharu, Hisayo Fujita, Osamu Komiyama, Hitomi Shimizu, Tomonobu Hasegawa, Kazuki Yamazawa
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia. Human genome variation 7 (2020)
Kazuki Yamazawa, Yohei Yamada, Tatsuo Kuroda, Hideki Mutai, Tatsuo Matsunaga, Osamu Komiyama, Takao Takahashi
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome. American journal of medical genetics. Part A 176 (2) (2017)

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Publication Activity (10 Years)

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Kazuki Yamazawa