YAMAZAWA Kazuki 山澤一樹

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Yamazawa Kazuki 山澤一樹

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Researcher Number	10338113
Other IDs
Affiliation (Current)	2025: 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医長
Affiliation (based on the past Project Information) *help	2020 – 2025: 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医長 2015 – 2019: 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 医師 2012 – 2014: 慶應義塾大学, 医学部, 助教 2010: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 2007 – 2009: National Research Institute for Child Health and Development, 小児思春期発育研究部, 共同研究員
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 59:Sports sciences, physical education, health sciences, and related fields / General surgery Except Principal Investigator Basic Section 58060:Clinical nursing-related / Biological Sciences / Human genetics
Keywords	Principal Investigator メチル化 / ゲノムインプリンティング / ヒドロキシメチル化 / エピジェネティクス / 先天異常症候群 / インプリンティング / 先制医療 / インプリンティング疾患 / SGA / 生活習慣病 … More / DOHaD / ゲノム / 遺伝性乳がん・卵巣がん症候群 / 遺伝性腫瘍 / 遺伝性乳癌卵巣癌 / 先天異常 / シルパーラッセル症候群 / 胎盤 / 先天奇形症候群 / 人類遺伝学 / シルバーラッセル症候群 / 成長障害 / 遺伝学 … More Except Principal Investigator 遺伝子調節 / ゲノム医療 / 遠隔医療 / 遺伝カウンセリング / iPS細胞 / エピ変異 / 生殖補助医療 / 臨床像 / 胎盤 / 成長障害 / エピジェネティクス / インプリンティング Less

Elucidation of 5mC/5hmC Profiles and Development of Therapeutic Strategies for Imprinting DisordersPrincipal Investigator
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Research on the Creation of Evidence for Remote Genetic Counseling in Genetic Medicine in the Post-COVID Era
- Principal Investigator
  
  井上沙聡
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58060:Clinical nursing-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Creation of treatment strategies for imprinting disorders through hydroxymethylation profilingPrincipal Investigator
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Development of biomarkers for lifestyle-related diseases by methylation analysis for SGA children based on the DOHaD theoryPrincipal Investigator
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 59:Sports sciences, physical education, health sciences, and related fields
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
The role of hydroxymethylation in imprinting diseases caused by abnormal methylationPrincipal Investigator
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylationPrincipal Investigator
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Exploring the role of methylation and hydroxymethylation in Hereditary Breast and Ovarian CancerPrincipal Investigator
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  General surgery
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
The role of hydroxymethylation in congenital anomaly syndromes caused by aberrant methylationPrincipal Investigator
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
  Keio University
メチル化異常による先天奇形症候群における5－ヒドロキシメチルシトシンの役割の解明Principal Investigator
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
ヒト生殖系列におけるインプリンティング制御機構の解明
- Principal Investigator
  
  鏡雅代
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  National Research Institute for Child Health and Development
Elucidation of the pathogenic mechanism and the clinical spectrum of disorders associated with imprinted genes on human chromosome 14
- Principal Investigator
  
  KAGAMI Masayo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Research Institute for Child Health and Development
Molecular genetic analysis of Silver-Russell syndrome and intrauterine growth retardationPrincipal Investigator
- Principal Investigator
  
  YAMAZAWA Kazuki
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development

[Book] 小児疾患診療のための病態生理2－改訂第6版－2021
- Author(s)
  山澤一樹
- Total Pages
  1111
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-21K19751
[Book] 小児疾患診療のための病態生理2-改訂第6版-2021
- Author(s)
  山澤一樹
- Total Pages
  1111
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-19H03628
[Book] IUGRの遺伝学的要因. SGA性低身長症のマネジメント (藤枝憲二, 板橋家頭夫監修)2009
- Author(s)
  緒方勤, 伊達木澄人, 山澤一樹
- Publisher
  メディカルレビュー社
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations2024
- Author(s)
  Nakashima Moeko、Shiroshima Tomoko、Fukaya Masahiro、Sugawara Takeyuki、Sakagami Hiroyuki、Yamazawa Kazuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 69 Issue: 3-4 Pages: 119-123
- DOI
  10.1038/s10038-023-01210-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309
[Journal Article] Acute, Severe Hepatitis Caused by Coronavirus Disease 2019: A Case Report2023
- Author(s)
  MAEDA Naonori、MORI Nobuaki、YAMAZAWA Kazuki、ABE Natsuno、KIJIMA Toshihide、KISHIDA Sanae、SATO Rieko、SUZUKI Eri、FUJITA Hisayo、MIHARU Masashi
- Journal Title
  
  Kansenshogaku Zasshi
  
  Volume: 97 Issue: 1 Pages: 38-41
- DOI
  10.11150/kansenshogakuzasshi.e22026
- ISSN
  0387-5911, 1884-569X
- Year and Date
  2023-01-20
- Language
  Japanese
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309
[Journal Article] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023
- Author(s)
  Yamazawa Kazuki、Sugano Kokichi、Tanakaya Kohji、Inoue Satomi、Murakami Haruka、Nakashima Moeko、Adachi Masataka、Oki Shinya、Makabe Takeshi、Yamashita Hiroshi、Ueki Arisa、Sasaoka Ayako、Nakashoji Ayako、Kinoshita Takayuki、Matsunaga Tatsuo、Arai Masami、Nakamura Seigo、Miyata Hiroaki、Ikegami Masachika, et al.
- Journal Title
  
  Cancer Science
  
  Volume: - Issue: 7 Pages: 2993-3002
- DOI
  10.1111/cas.15799
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082, KAKENHI-PROJECT-17K16881, KAKENHI-PROJECT-23K24309, KAKENHI-PROJECT-22K15571, KAKENHI-PROJECT-21H02795
[Journal Article] Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes2023
- Author(s)
  Hara-Isono Kaori、Matsubara Keiko、Nakamura Akie、Sano Shinichiro、Inoue Takanobu、Kawashima Sayaka、Fuke Tomoko、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 15 Issue: 1 Pages: 78-78
- DOI
  10.1186/s13148-023-01494-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309, KAKENHI-PROJECT-22K07858
[Journal Article] Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population2022
- Author(s)
  Murakami Haruka、Tanimoto Yoko、Tanimoto Kojiro、Inoue Satomi、Ishikawa Taisuke、Makita Naomasa、Yamazawa Kazuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1 Pages: 28-28
- DOI
  10.1038/s41439-022-00206-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082, KAKENHI-PROJECT-21H02920, KAKENHI-PROJECT-23K24309
[Journal Article] Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders2022
- Author(s)
  Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, Takanobu Inoue, Sayaka Kawashima, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K19751
[Journal Article] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma2022
- Author(s)
  Yagi Yasuto、Abeto Naoko、Shiraishi Junichi、Miyata Chieko、Inoue Satomi、Murakami Haruka、Nakashima Moeko、Sugano Kokichi、Ushiama Mineko、Yoshida Teruhiko、Yamazawa Kazuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1
- DOI
  10.1038/s41439-021-00180-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082
[Journal Article] <i>CDKN1C</i>hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited<i>KCNQ1OT1</i>:TSS-DMR2022
- Author(s)
  Hara-Isono Kaori、Yamazawa Kazuki、Tanaka Satsuki、Nishi Eriko、Fukami Maki、Kagami Masayo
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 59 Issue: 12 Pages: 1241-1246
- DOI
  10.1136/jmg-2022-108700
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309
[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Hara-Isono, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Human Genetics
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K19751
[Journal Article] Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders2022
- Author(s)
  Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, Takanobu Inoue, Sayaka Kawashima, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Fuke Tomoko、Nakamura Akie、Inoue Takanobu、Kawashima Sayaka、Hara-Isono Kaori、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 10 Pages: 607-611
- DOI
  10.1038/s10038-022-01048-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-23K24309
[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Hara-Isono, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Human Genetics
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders2022
- Author(s)
  Hara-Isono Kaori、Nakamura Akie、Fuke Tomoko、Inoue Takanobu、Kawashima Sayaka、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 107 Issue: 8 Pages: e3121-e3133
- DOI
  10.1210/clinem/dgac319
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-23K24309
[Journal Article] Dynamics of transcription-mediated conversion from euchromatin to facultative heterochromatin at the Xist promoter by Tsix2021
- Author(s)
  Ohhata Tatsuya、Yamazawa Kazuki、Miura-Kamio Asuka、Takahashi Saori、Sakai Satoshi、Tamura Yuka、Uchida Chiharu、Kitagawa Kyoko、Niida Hiroyuki、Hiratani Ichiro、Kobayashi Hisato、Kimura Hiroshi、Wutz Anton、Kitagawa Masatoshi
- Journal Title
  
  Cell Reports
  
  Volume: 34 Issue: 13 Pages: 108912-108912
- DOI
  10.1016/j.celrep.2021.108912
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K20582, KAKENHI-PLANNED-18H05527, KAKENHI-PLANNED-18H05530, KAKENHI-PROJECT-18K14681, KAKENHI-PROJECT-17K08727, KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-20K07043, KAKENHI-PROJECT-20K07378, KAKENHI-PROJECT-20K06541
[Journal Article] A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder2021
- Author(s)
  Yamazawa Kazuki、Shimizu Kenji、Ohashi Hirofumi、Haruna Hidenori、Inoue Satomi、Murakami Haruka、Matsunaga Tatsuo、Iwata Takeshi、Tsunoda Kazushige、Fujinami Kaoru
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1
- DOI
  10.1038/s41439-021-00178-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20K19082
[Journal Article] 水痘ワクチン株由来の三叉神経領域帯状疱疹を発症した6歳男児の1例2021
- Author(s)
  坂野沙里, 三春晶嗣, 雪野祐莉子, 磯部あいこ, 影山智佳, 前田直則, 籏生なおみ, 佐藤利永子, 鈴木絵理, 山澤一樹, 藤田尚代, 込山修.
- Journal Title
  
  小児科臨床
  
  Volume: 74 Pages: 55-59
- NAID
  40022438926
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 22020
- Author(s)
  Isobe Aiko、Maeda Naonori、Fujita Hisayo、Banno Sari、Kageyama Tomoka、Hatabu Naomi、Sato Rieko、Suzuki Eri、Miharu Masashi、Komiyama Osamu、Nakashima Moeko、Matsunaga Tatsuo、Nishimura Gen、Yamazawa Kazuki
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 185 Issue: 3 Pages: 952-954
- DOI
  10.1002/ajmg.a.62038
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia2020
- Author(s)
  Hashimoto Nobuhiro、Dateki Sumito、Suzuki Eri、Tsuchihashi Takatoshi、Isobe Aiko、Banno Sari、Kageyama Tomoka、Maeda Naonori、Hatabu Naomi、Sato Rieko、Miharu Masashi、Fujita Hisayo、Komiyama Osamu、Shimizu Hitomi、Hasegawa Tomonobu、Yamazawa Kazuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Issue: 1
- DOI
  10.1038/s41439-020-00112-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome2020
- Author(s)
  Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: －
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum2020
- Author(s)
  Fuke Tomoko、Nakamura Akie、Inoue Takanobu、Kawashima Sayaka、Hara Kaori Isono、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 106 Issue: 3 Pages: 802-813
- DOI
  10.1210/clinem/dgaa856
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20K08178
[Journal Article] Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients2020
- Author(s)
  Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M
- Journal Title
  
  Clinical Epigenetics
  
  Volume: －
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] 植物ステロール摂取制限、コレスチミド、エゼチミブによる治療を7年間行っているシトステロール血症の臨床経過2020
- Author(s)
  橋本伸弘，鈴木絵理，三春晶嗣，磯部あいこ，坂野沙里，影山智佳，前田直則，籏生なおみ，佐藤利永子，山澤一樹，藤田尚代，込山修
- Journal Title
  
  小児科臨床
  
  Volume: 73 Pages: 1549-1553
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] Genome-wide methylation analysis in Silver?Russell syndrome, Temple syndrome, and Prader?Willi syndrome2020
- Author(s)
  Hara-Isono Kaori、Matsubara Keiko、Fuke Tomoko、Yamazawa Kazuki、Satou Kazuhito、Murakami Nobuyuki、Saitoh Shinji、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 12 Issue: 1 Pages: 159-159
- DOI
  10.1186/s13148-020-00949-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03628
[Journal Article] 舌根嚢胞の1か月女児例2019
- Author(s)
  岡田怜奈，影山智佳，前田直則，河津桃子，籏生なおみ，佐藤利永子，香取奈穂，鈴木絵理，三春晶嗣，山澤一樹，藤田尚代，込山修
- Journal Title
  
  小児科臨床
  
  Volume: 72 Pages: 1683-1687
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[Journal Article] A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism2019
- Author(s)
  Hatabu Naomi、Katori Naho、Sato Takeshi、Maeda Naonori、Suzuki Eri、Komiyama Osamu、Tsutsui Hidemitsu、Nagao Toshitaka、Nakauchi-Takahashi Hana、Matsunaga Tatsuo、Ishii Tomohiro、Hasegawa Tomonobu、Yamazawa Kazuki
- Journal Title
  
  Hormone Research in Paediatrics
  
  Volume: 印刷中 Issue: 1 Pages: 1-8
- DOI
  10.1159/000495800
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08705, KAKENHI-PROJECT-16H05362
[Journal Article] High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy.2018
- Author(s)
  Matsushima K, Nakano A, Arimoto Y, Mutai H, Yamazawa K, Murayama K, Matsunaga T.
- Journal Title
  
  Intl J Ped Otorhinolaryng
  
  Volume: 108 Pages: 125-131
- DOI
  10.1016/j.ijporl.2018.02.037
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-15K10773, KAKENHI-PROJECT-15K15478
[Journal Article] 起立性低血圧症状で発症した自己免疫性自律神経節障害の9歳児例．2018
- Author(s)
  2.河津桃子，三春晶嗣，鳥井健一，雨宮あつこ，鈴木絵理，山澤一樹，藤田尚代，込山修，樋口理，中根俊成，小平隆太郎，高橋孝雄．
- Journal Title
  
  小児科臨床
  
  Volume: 71 Pages: 47-53
- Data Source
  KAKENHI-PROJECT-15K15478
[Journal Article] Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology2018
- Author(s)
  Inoue Takanobu、Yagasaki Hideaki、Nishioka Junko、Nakamura Akie、Matsubara Keiko、Narumi Satoshi、Nakabayashi Kazuhiko、Yamazawa Kazuki、Fuke Tomoko、Oka Akira、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 印刷中 Issue: 6 Pages: 413-418
- DOI
  10.1136/jmedgenet-2018-105463
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K08689, KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-17H04204
[Journal Article] Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.2018
- Author(s)
  Yamazawa K, Yamada Y, Kuroda T, Mutai H, Matsunaga T, Komiyama O, Takahashi T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 176 Issue: 2 Pages: 496-498
- DOI
  10.1002/ajmg.a.38556
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-15K10773, KAKENHI-PROJECT-15K15478
[Journal Article] 起立性低血圧症状で発症した自己免疫性自律神経節障害の9歳児例．2018
- Author(s)
  河津桃子，三春晶嗣，鳥井健一，雨宮あつこ，鈴木絵理，山澤一樹，藤田尚代，込山修，樋口理，中根俊成，小平隆太郎，高橋孝雄．
- Journal Title
  
  小児科臨床
  
  Volume: 71 Pages: 47-53
- Data Source
  KAKENHI-PROJECT-16H05362
[Journal Article] 単為生殖とゲノムワイド片親性ダイソミー.2017
- Author(s)
  山澤一樹
- Journal Title
  
  医学のあゆみ
  
  Volume: 263 Pages: 317-321
- Data Source
  KAKENHI-PROJECT-15K15478
[Journal Article] 単為生殖とゲノムワイド片親性ダイソミー.2017
- Author(s)
  山澤一樹
- Journal Title
  
  医学のあゆみ
  
  Volume: 263 Pages: 317-321
- Data Source
  KAKENHI-PROJECT-16H05362
[Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017
- Author(s)
  Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 9 Issue: 1 Pages: 52-52
- DOI
  10.1186/s13148-017-0350-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K01686, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478
[Journal Article] H1foo Has a Pivotal Role in Qualifying Induced Pluripotent Stem Cells2016
- Author(s)
  Kunitomi A, Yuasa S, Sugiyama F, Saito Y, Seki T, Kusumoto D, Kashimura S, Takei M, Tohyama S, Hashimoto H, Egashira T, Tanimoto Y, Mizuno S, Tanaka S, Okuno H, Yamazawa K, Watanabe H, Oda M, Kaneda R, Matsuzaki Y, Nagai T, Okano H, Yagami K, Tanaka M, Fukuda K.
- Journal Title
  
  Stem Cell Reports
  
  Volume: 6 Issue: 6 Pages: 825-833
- DOI
  10.1016/j.stemcr.2016.04.015
- NAID
  120007135348
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-15K14431, KAKENHI-PROJECT-26860583, KAKENHI-PROJECT-15K15478, KAKENHI-PROJECT-16K15415, KAKENHI-PROJECT-16K15536, KAKENHI-PROJECT-16K19429, KAKENHI-PROJECT-16H05304
[Journal Article] ゲノム時代の到来と遺伝リテラシー2016
- Author(s)
  山澤一樹
- Journal Title
  
  国立医療学会誌
  
  Volume: 70 Pages: 106-109
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K15478
[Journal Article] ゲノム時代の到来と遺伝リテラシー2016
- Author(s)
  山澤一樹
- Journal Title
  
  国立医療学会誌
  
  Volume: 70 Pages: 106-109
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25713040
[Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.2015
- Author(s)
  Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 28;7(1) Issue: 1 Pages: 90-90
- DOI
  10.1186/s13148-015-0124-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25713040
[Journal Article] 今月の用語　次世代シークエンサー2015
- Author(s)
  山澤一樹
- Journal Title
  
  国立医療学会誌
  
  Volume: 69 Pages: 383-383
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K15478
[Journal Article] Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression2015
- Author(s)
  Ruslan Strogantsev, Felix Krueger, Kazuki Yamazawa, Hui Shi, Poppy Gould, Megan Goldman-Roberts, Kirsten McEwen, Bowen Sun, Roger Pedersen, Anne C. Ferguson-Smith
- Journal Title
  
  Genome Biology
  
  Volume: 16 Issue: 1 Pages: 112-112
- DOI
  10.1186/s13059-015-0672-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15478, KAKENHI-PROJECT-25713040
[Journal Article] 今月の用語　次世代シークエンサー2015
- Author(s)
  山澤一樹
- Journal Title
  
  国立医療学会誌
  
  Volume: 69 Pages: 383-383
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25713040
[Journal Article] In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism2014
- Author(s)
  Elizabeth J. Radford, Mitsuteru Ito, Hui Shi, Jennifer A. Corish, Kazuki Yamazawa, Elvira Isganaitis, Stefanie Seisenberger, Timothy A. Hore, Wolf Reik, Serap Erkek, Antoine H. F. M. Peters, Mary-Elizabeth Patti, Anne C. Ferguson-Smith
- Journal Title
  
  Science
  
  Volume: 345 Issue: 6198
- DOI
  10.1126/science.1255903
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25713040
[Journal Article] A pediatric case of antibiotic-associated hemorrhagic colitis caused by Klebsiella Oxytoca2014
- Author(s)
  Mamiko Yamada, Kazuki Yamazawa, Shinichiro Sekiguchi, Masayoshi Shinjoh, Kentaro Tomita, Toshiki Takenouchi, Takao Takahashi
- Journal Title
  
  Global Pediatric Health
  
  Volume: 1
- DOI
  10.1177/2333794x14550525
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25713040
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45, X Cell Lineage Accompanied by Biparentally Derived Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derive Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.A
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45, X Cell Lineage Accompanied by Biparentally Derived Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai Y, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placental Hypoplasia in Maternal Uniparental Disomy for Chromosome 72008
- Author(s)
  Yamazawa K
- Journal Title
  
  American Journal of Medical Genetics Part A 146A
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T
- Journal Title
  
  American Journal of Medical Genetics Part A 146A(4)
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, et al.
- Journal Title
  
  Journal of Human Genetics 53
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentasYamazawa K, et al.2008
- Author(s)
  Yamazawa K, et al.
- Journal Title
  
  Journal of Molecular Medicine 86
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.
- Journal Title
  
  Am J Med Gent A. 146A
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 14.2008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  J Hum Genet 53
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  J Mol Med. 86
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST2007
- Author(s)
  Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T
- Journal Title
  
  Journal of Assisted Reproduction and Genetics 24(4)
  
  Pages: 131-136
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derived Autosomes
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derived Autosomes.
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of M edical Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] 重度発達遅滞および難治性てんかんを呈する症例で同定されたIQSEC2遺伝子ナンセンスバリアントの機能解析2023
- Author(s)
  山澤一樹, 中嶋萌子, 深谷昌浩, 菅原健之, 城島知子, 阪上洋行
- Organizer
  第46回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023
- Author(s)
  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, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Generating evidence to improve clinical practice for patients with hearing loss associated with eye disorders2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kimitaka Kaga
- Organizer
  CORLAS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 遺伝性網膜ジストロフィにおける遺伝子パネル検査を用いた遺伝子診断の先進医療2023
- Author(s)
  前田亜希子, 横田聡, 浦川優作, 吉田晶子, 稲葉慧, 河合加奈子, 松崎光博, 酒井大輝, 田保和也, 木場みゆき, 山本翠, 許沢尚弘, 北畑将平, 前田忠郎, 万代道子, 村上遥香, 井上沙聡, 中村奈津子, 藤波芳, 山澤一樹, 角田和繁, 森貞直哉, 平見恭彦, 栗本康夫, 高橋政代
- Organizer
  第127回日本眼科学会総会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 遺伝医療のunmet needsを解決するための遠隔遺伝カウンセリングの実践2023
- Author(s)
  村上遥香, 井上沙聡, 松永達雄, 藤波芳, 山澤一樹
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Distinct clinical effect of two RP1L1 hotspots of Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning2023
- Author(s)
  Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Lizhu Yang, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Ruifang Sui, Se Joon Woo, Kaoru Fujinami
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] A retrospective analysis of presumed germline pathogenic variants in the comprehensive genomic profiling test for cancer2023
- Author(s)
  Haruka Murakami, Satomi Inoue, Tatsuo Matsunaga, Kohei Nakamura, Hiroshi Nishihara, Yasutaka Sukawa, Yoshitaka Oyamada, Takayuki Kinoshita, Kazuki Yamazawa
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Efficient identification of causative genes of hearing loss by phenotype similarity analysis2023
- Author(s)
  Hideki Mutai, Fuyuki Miya, Kiyomitsu Nara, Reiko Muramatsu, Satomi Inoue, Haruka Murakami, Shujiro Minami, Atsuko Nakano, Yukiko Arimoto, Noriko Morimoto, Taiji Kawasaki, Koichiro Wasano, Hirokazu Sakamoto, Sayaka Katsunuma, Sawako Masuda, Kazuki Yamazawa, Kenjiro Kosaki, Tatsuhiko Tsunoda, Tatsuo Matsunaga
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Genetic approach to improve clinical practice for deafblindness in Japan2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kaoru Fujinami, Fujioka Masato, Nobuko Yamamoto, Noriko Morimoto, Nana Tsuchihashi, Masatsugu Masuda, Yukiko Arimoto, Atsuko Nakano, Hirokazu Sakamoto, Toshiyuki Seto, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Comprehensive methylation analysis of 309 children born SGA targeting imprinting disorders2023
- Author(s)
  Kazuki Yamazawa, Moeko Nakashima, Takanobu Inoue, Akiko Nakamura, Keiko Matsubara, Masayo Kagami
- Organizer
  American Society of Human Genetics 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Comprehensive methylation analysis of 309 children born SGA targeting imprinting disorders2023
- Author(s)
  Kazuki Yamazawa, Moeko Nakashima, Takanobu Inoue, Akiko Nakamura, Keiko Matsubara, Masayo Kagami
- Organizer
  American Society of Human Genetics 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] A retrospective analysis of presumed germline pathogenic variants in the comprehensive genomic profiling test for cancer2023
- Author(s)
  Haruka Murakami, Satomi Inoue, Tatsuo Matsunaga, Kohei Nakamura, Hiroshi Nishihara, Yasutaka Sukawa, Yoshitaka Oyamada, Takayuki Kinoshita, Kazuki Yamazawa
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 伝性網膜ジストロフィにおける遺伝子パネル検査を用いた遺伝子診断の先進医療2023
- Author(s)
  前田亜希子, 横田聡, 浦川優作, 吉田晶子, 稲葉慧, 河合加奈子, 松崎光博, 酒井大輝, 田保和也, 木場みゆき, 山本翠, 許沢尚弘, 北畑将平, 前田忠郎, 万代道子, 村上遥香, 井上沙聡, 中村奈津子, 藤波芳, 山澤一樹, 角田和繁, 森貞直哉, 平見恭彦, 栗本康夫, 高橋政代
- Organizer
  第127回日本眼科学会総会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition2023
- Author(s)
  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, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus2023
- Author(s)
  Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Izumi Naka, Jun Ohashi, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 希少未診断疾患エピバリアント解析のための参照データベースとツールキットの開発2023
- Author(s)
  青砥早希, 松原圭子, 山澤一樹, 秦健一郎, 鏡雅代, 中林一彦
- Organizer
  第46回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 遺伝性網膜疾患パネル検査に伴う遺伝カウンセリングのニーズおよび有用性の質問紙調査2023
- Author(s)
  吉田晶子, 稲葉慧, 浦川優作, 河合加奈子, 角田和繁, 藤波芳, 村上遥香, 井上沙聡, 山澤一樹, 横田聡, 平見恭彦, 高橋政代, 栗本康夫, 前田亜希子
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Generating evidence to improve clinical practice for patients with hearing loss associated with eye disorders2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kimitaka Kaga
- Organizer
  CORLAS 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Efficient identification of causative genes of hearing loss by phenotype similarity analysis2023
- Author(s)
  Hideki Mutai, Fuyuki Miya, Kiyomitsu Nara, Reiko Muramatsu, Satomi Inoue, Haruka Murakami, Shujiro Minami, Atsuko Nakano, Yukiko Arimoto, Noriko Morimoto, Taiji Kawasaki, Koichiro Wasano, Hirokazu Sakamoto, Sayaka Katsunuma, Sawako Masuda, Kazuki Yamazawa, Kenjiro Kosaki, Tatsuhiko Tsunoda, Tatsuo Matsunaga
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Distinct clinical effect of two RP1L1 hotspots of Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning2023
- Author(s)
  Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Lizhu Yang, Kazushige Tsunoda, Mineo Kondo, Seong Joon Ahn, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Ruifang Sui, Se Joon Woo, Kaoru Fujinami
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 遺伝性網膜疾患パネル検査に伴う遺伝カウンセリングのニーズおよび有用性の質問紙調査2023
- Author(s)
  吉田晶子, 稲葉慧, 浦川優作, 河合加奈子, 角田和繁, 藤波芳, 村上遥香, 井上沙聡, 山澤一樹, 横田聡, 平見恭彦, 高橋政代, 栗本康夫, 前田亜希子
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 重度発達遅滞および難治性てんかんを呈する症例で同定されたIQSEC2遺伝子ナンセンスバリアントの機能解析2023
- Author(s)
  山澤一樹, 中嶋萌子, 深谷昌浩, 菅原健之, 城島知子, 阪上洋行
- Organizer
  第46回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 希少未診断疾患エピバリアント解析のための参照データベースとツールキットの開発2023
- Author(s)
  青砥早希, 松原圭子, 山澤一樹, 秦健一郎, 鏡雅代, 中林一彦
- Organizer
  第46回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus2023
- Author(s)
  Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Izumi Naka, Jun Ohashi, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Genetic approach to improve clinical practice for deafblindness in Japan2023
- Author(s)
  Tatsuo Matsunaga, Kiyomitsu Nara, Hideki Mutai, Haruka Murakami, Satomi Inoue, Reiko Muramatsu, Kazuki Yamazawa, Shujiro Minami, Kaoru Fujinami, Fujioka Masato, Nobuko Yamamoto, Noriko Morimoto, Nana Tsuchihashi, Masatsugu Masuda, Yukiko Arimoto, Atsuko Nakano, Hirokazu Sakamoto, Toshiyuki Seto, et al.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 遺伝医療のunmet needsを解決するための遠隔遺伝カウンセリングの実践2023
- Author(s)
  村上遥香, 井上沙聡, 松永達雄, 藤波芳, 山澤一樹
- Organizer
  第47回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] がんゲノム医療でATM 遺伝子に病的バリアントを認め家族への介入につながった遺伝性膵臓がんの一家系2022
- Author(s)
  村上遥香, 井上沙聡, 川口義樹, 須河恭敬, 吉田康祐, 松井哲, 松永達雄, 山澤一樹
- Organizer
  第46回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] COL2A1遺伝子にバリアントを同定した骨 X 線異常所見を伴わない SGA 性低身長症母児例2022
- Author(s)
  有安大典, 古川律子, 山澤一樹, 西村玄, 室谷浩二, 土橋隆俊
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] PURA症候群は先天性中枢性低換気症候群の鑑別診断である2022
- Author(s)
  桂美遥, 坂野沙里, 大江俊太郎, 髙田啓志, 影山智佳, 前田直則, 籏生なおみ, 佐藤利永子, 鈴木絵理, 藤田尚代, 増田怜史, 和田友香, 丸山秀彦, 鈴木俊彦, 山田洋輔, 長谷川久弥, 三春晶嗣, 山澤一樹
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 当院で経験したBirt-Hogg-Dube症候群の3家系2022
- Author(s)
  村上遥香, 井上沙聡, 安齋純子, 松永達雄, 小山孝彦, 古屋充子, 山澤一樹
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] がんゲノム医療でATM 遺伝子に病的バリアントを認め家族への介入につながった遺伝性膵臓がんの一家系2022
- Author(s)
  村上遥香, 井上沙聡, 川口義樹, 須河恭敬, 吉田康祐, 松井哲, 松永達雄, 山澤一樹
- Organizer
  第46回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 症候群性または非症候群性難聴を呈したMTTS1遺伝子バリアント7家系の報告2022
- Author(s)
  南修司郎, 喜田有未来, 井上沙聡, 奈良清光, 務台秀樹, 山澤一樹, 松永達雄
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] PURA症候群は先天性中枢性低換気症候群の鑑別診断である.2022
- Author(s)
  桂美遥, 坂野沙里, 大江俊太郎, 髙田啓志, 影山智佳, 前田直則, 籏生なおみ, 佐藤利永子, 鈴木絵理, 藤田尚代, 増田怜史, 和田友香, 丸山秀彦, 鈴木俊彦, 山田洋輔, 長谷川久弥, 三春晶嗣, 山澤一樹.
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 症候群性または非症候群性難聴を呈したMTTS1遺伝子バリアント7家系の報告2022
- Author(s)
  南修司郎, 喜田有未来, 井上沙聡, 奈良清光, 務台秀樹, 山澤一樹, 松永達雄
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] COL2A1遺伝子にバリアントを同定した骨 X 線異常所見を伴わない SGA 性低身長症母児例2022
- Author(s)
  有安大典, 古川律子, 山澤一樹, 西村玄, 室谷浩二, 土橋隆俊
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 当院で経験したBirt-Hogg-Dube症候群の3家系2022
- Author(s)
  村上遥香, 井上沙聡, 安齋純子, 松永達雄, 小山孝彦, 古屋充子, 山澤一樹. 当院で経験したBirt-Hogg-Dube症候群の3家系
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] PURA症候群は先天性中枢性低換気症候群の鑑別診断である.2022
- Author(s)
  桂美遥, 坂野沙里, 大江俊太郎, 髙田啓志, 影山智佳, 前田直則, 籏生なおみ, 佐藤利永子, 鈴木絵理, 藤田尚代, 増田怜史, 和田友香, 丸山秀彦, 鈴木俊彦, 山田洋輔, 長谷川久弥, 三春晶嗣, 山澤一樹.
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] PURA症候群は先天性中枢性低換気症候群の鑑別診断である2022
- Author(s)
  桂美遥, 坂野沙里, 大江俊太郎, 髙田啓志, 影山智佳, 前田直則, 籏生なおみ, 佐藤利永子, 鈴木絵理, 藤田尚代, 増田怜史, 和田友香, 丸山秀彦, 鈴木俊彦, 山田洋輔, 長谷川久弥, 三春晶嗣, 山澤一樹
- Organizer
  第125回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 2p15p16.1微細欠失症候群とRP2関連網膜症を合併した男児例.2021
- Author(s)
  山澤一樹, 清水健司, 大橋博文, 春名英典, 井上沙聡, 村上遙香, 松永達雄, 岩田岳, 角田和繁, 藤波芳.
- Organizer
  第44回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] DSG2遺伝子における東アジア人のfounder variantをホモ接合性に同定したARVCの一例2021
- Author(s)
  村上遥香, 谷本陽子, 谷本耕司郎, 井上沙聡, 石川泰輔, 蒔田直昌, 山澤一樹.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.2021
- Author(s)
  Yamazawa K, Yagi Y, Abeto N, Shiraishi J, Miyata C, Inoue S, Murakami H, Nakashima M, Sugano K, Ushiama M, Yoshida T.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] 当院におけるBRCA1/2遺伝学的検査の現状と課題2021
- Author(s)
  井上沙聡, 安齋純子, 安達将隆, 大木慎也, 笹岡綾子, 中小路絢子, 笹原真奈美, 山下博, 松井哲, 松永達雄, 山澤一樹.
- Organizer
  第45回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.2021
- Author(s)
  Yamazawa K, Yagi Y, Abeto N, Shiraishi J, Miyata C, Inoue S, Murakami H, Nakashima M, Sugano K, Ushiama M, Yoshida T.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 当院におけるBRCA1/2遺伝学的検査の現状と課題2021
- Author(s)
  井上沙聡, 安齋純子, 安達将隆, 大木慎也, 笹岡綾子, 中小路絢子, 笹原真奈美, 山下博, 松井哲, 松永達雄, 山澤一樹.
- Organizer
  第45回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] 2p15p16.1微細欠失症候群とRP2関連網膜症を合併した男児例.2021
- Author(s)
  山澤一樹, 清水健司, 大橋博文, 春名英典, 井上沙聡, 村上遙香, 松永達雄, 岩田岳, 角田和繁, 藤波芳.
- Organizer
  第44回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-21K19751
[Presentation] DSG2遺伝子における東アジア人のfounder variantをホモ接合性に同定したARVCの一例2021
- Author(s)
  村上遥香, 谷本陽子, 谷本耕司郎, 井上沙聡, 石川泰輔, 蒔田直昌, 山澤一樹.
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] A 3-month-old boy with Feingold syndrome 2: evaluation by metacarpophalangeal pattern profile analysis2021
- Author(s)
  山澤一樹、前田直則、磯部あいこ、込山修
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] A case of maternal uniparental disomy of chromosome 6 presenting with Silver-Russell syndrome phenotype2020
- Author(s)
  Kazuki Yamazawa, Toru Kuboi, Tatsuya Miyoshi, Moeko Nakashima, Keiko Matsubara, Masayo Kagami.
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features.2020
- Author(s)
  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.
- Organizer
  Genomic Imprinting - from Biology to Disease Virtual Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] 娘のBRACAnalysisを契機に未発症病的バリアント保持者であることが判明しRRSOを施行した1例．2020
- Author(s)
  井上沙聡、安齋純子、山澤一樹、安達将隆、大木慎也、植木有紗、笹岡綾子、柵木晴妃、岩田侑子、市村佳子、笹原真奈美、山下博、松井哲、松永達雄．
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features reminiscent of Silver-Russell syndrome.2020
- Author(s)
  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.
- Organizer
  European Human Genetics Virtual Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] 免疫組織化学染色でMSH2/MSH6の発現低下を認めるも、MSH6遺伝子にのみ病的バリアントを呈しLynch症候群と診断された子宮体癌と大腸癌の異時性重複癌の1例．2020
- Author(s)
  大木慎也、安達将隆、山澤一樹、植木有紗、井上沙聡、安齋純子、松永達雄、菅野康吉、山下博．
- Organizer
  第26回日本家族性腫瘍学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Multi-gene testingでBRCA2遺伝子の病的バリアントおよびCHEK2遺伝子の意義不明バリアントを認めた兄妹例2019
- Author(s)
  山澤一樹、井上沙聡、安齋純子、安達将隆、松永達雄
- Organizer
  第25回日本家族性腫瘍学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] ZNF597-DMRの低メチル化に伴い胎児発育遅延を呈した1例：新規インプリンティング異常症の発見2019
- Author(s)
  山澤一樹、井上毅信、酒見好弘、中嶋敏紀、山下博徳、河野一樹、中嶋萌子、中林一彦、秦健一郎、松原圭子、鏡雅代
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] HBOCリスクが高い患者を拾い上げるための当院での取り組み2019
- Author(s)
  井上沙聡、安斎純子、植木有紗、安達将隆、山澤一樹、笹岡綾子、三善友莉、岩田侑子、山下博、松井哲、松永達雄
- Organizer
  第7回HBOCコンソーシアム学術総会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] ZNF597:TSS-DMRの低メチル化に伴い胎児発育遅延を呈した1例：新規インプリンティング異常症の発見2019
- Author(s)
  山澤一樹、井上毅信、酒見好弘、中嶋敏紀、山下博徳、河野一樹、中嶋萌子、中林一彦、秦健一郎、松原圭子、鏡雅代
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Multi-gene testingでBRCA2遺伝子の病的バリアントおよびCHEK2遺伝子の意義不明バリアントを認めた兄妹例2019
- Author(s)
  山澤一樹、井上沙聡、安齋純子、安達将隆、松永達雄
- Organizer
  第25回日本家族性腫瘍学会学術集会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] 臨床的観点からみたジェネティクスとエピジェネティクス2018
- Author(s)
  山澤一樹
- Organizer
  第3回三重NICUフォローアップ検討会
- Invited
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] 東京医療センター・臨床遺伝センターの歩み2018
- Author(s)
  山澤一樹
- Organizer
  Ophthalmic Genetics Meeting 2018
- Invited
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] 東京医療センター・臨床遺伝センターの歩み2018
- Author(s)
  山澤一樹
- Organizer
  Ophthalmic Genetics Meeting 2018
- Invited
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] SMAD4遺伝子に病的バリアントを同定した若年性ポリポーシス/遺伝性出血性末梢血管拡張症症候群家系2018
- Author(s)
  山澤一樹、安達将隆、國富晴子、増田健太、石田文孝、三須久美子、小崎健次郎、浜本康夫、後藤修、矢作直久、牛尼美年子、吉田輝彦、菅野康吉
- Organizer
  第24回日本家族性腫瘍学会学術集会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] 臨床的観点からみたジェネティクスとエピジェネティクス2018
- Author(s)
  山澤一樹
- Organizer
  第3回三重NICUフォローアップ検討会
- Invited
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] SMAD4遺伝子に病的バリアントを同定した若年性ポリポーシス/遺伝性出血性末梢血管拡張症症候群家系2018
- Author(s)
  山澤一樹、安達将隆、國富晴子、増田健太、石田文孝、三須久美子、小崎健次郎、浜本康夫、後藤修、矢作直久、牛尼美年子、吉田輝彦、菅野康吉
- Organizer
  第24回日本家族性腫瘍学会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] CDC73遺伝子の生殖細胞系列における全欠失および体細胞系列における病的バリアントを同定した原発性副甲状腺機能亢進症の男児例．2018
- Author(s)
  山澤一樹，籏生なおみ，香取奈穂，前田直則，鈴木絵理，込山修，筒井英光，長尾俊孝，佐藤武志，石井智弘，長谷川奉延．
- Organizer
  第40回日本小児遺伝学会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] CDC73遺伝子の生殖細胞系列における全欠失および体細胞系列における病的バリアントを同定した原発性副甲状腺機能亢進症の男児例．2018
- Author(s)
  山澤一樹，籏生なおみ，香取奈穂，前田直則，鈴木絵理，込山修，筒井英光，長尾俊孝，佐藤武志，石井智弘，長谷川奉延．
- Organizer
  第40回日本小児遺伝学会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] SMAD4遺伝子に病的バリアントを同定した若年性ポリポーシス/遺伝性出血性末梢血管拡張症症候群家系2018
- Author(s)
  山澤一樹、安達将隆、國富晴子、増田健太、石田文孝、三須久美子、小崎健次郎、浜本康夫、後藤修、矢作直久、牛尼美年子、吉田輝彦、菅野康吉
- Organizer
  第24回日本家族性腫瘍学会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] 非典型的表現型により未診断のまま重篤な出血エピソードを繰り返したヌーナン症候群の一例.2017
- Author(s)
  山澤一樹, 込山修, 高橋孝雄.
- Organizer
  第120回日本小児科学会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] Germline whole-gene deletion and somatic nonsense variant of the CDC73 gene in a boy with primary hyperparathyroidism.2017
- Author(s)
  Hatabu N, Katori N, Maeda N, Suzuki E, Komiyama O, Tsutsui H, Nagao T, Sato T, Ishii T, Hasegawa T, Yamazawa K.
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] 山澤一樹, 込山修, 高橋孝雄. 非典型的表現型により未診断のまま重篤な出血エピソードを繰り返したヌーナン症候群の一例.2017
- Author(s)
  山澤一樹, 込山修, 高橋孝雄.
- Organizer
  第120回日本小児科学会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] Germline whole-gene deletion and somatic nonsense variant of the CDC73 gene in a boy with primary hyperparathyroidism.2017
- Author(s)
  Hatabu N, Katori N, Maeda N, Suzuki E, Komiyama O, Tsutsui H, Nagao T, Sato T, Ishii T, Hasegawa T, Yamazawa K.
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] CDC73遺伝子全領域を含む3.4 Mbの欠失を認めた副甲状腺腺腫の15歳男児例.2017
- Author(s)
  山澤一樹, 前田直則, 籏生なおみ, 香取奈穂, 鈴木絵理, 込山修, 佐藤武志, 石井智弘, 長谷川奉延, 筒井英光, 長尾俊孝.
- Organizer
  第23回日本家族性腫瘍学会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] メチル化異常に起因する小児先天異常症候群においてヒドロキシメチル化が果たす役割の解明．2017
- Author(s)
  山澤一樹
- Organizer
  第51回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] CDC73遺伝子全領域を含む3.4 Mbの欠失を認めた副甲状腺腺腫の15歳男児例.2017
- Author(s)
  山澤一樹, 前田直則, 籏生なおみ, 香取奈穂, 鈴木絵理, 込山修, 佐藤武志, 石井智弘, 長谷川奉延, 筒井英光, 長尾俊孝.
- Organizer
  第23回日本家族性腫瘍学会
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] メチル化異常に起因する小児先天異常症候群においてヒドロキシメチル化が果たす役割の解明．2017
- Author(s)
  山澤一樹
- Organizer
  第51回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2016
- Author(s)
  Yamazawa K, Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T
- Organizer
  International Congress of Human Genetics 2016 Annual Meeting
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2016
- Author(s)
  Yamazawa K, Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T
- Organizer
  International Congress of Human Genetics 2016 Annual Meeting
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] 2回の重篤な出血のエピソードを認め、エクソーム解析によって診断されたヌーナン症候群の一例2016
- Author(s)
  山澤一樹, 山田洋平, 務台英樹, 松永達雄, 込山修, 高橋孝雄
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田キャンパス（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] 遺伝性乳がん・卵巣がんの診療の実情2016
- Author(s)
  山澤一樹
- Organizer
  乳がん地域医療を考える会
- Place of Presentation
  セルリアンタワー東急ホテル（東京都渋谷区）
- Year and Date
  2016-05-25
- Invited
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] 2回の重篤な出血のエピソードを認め、エクソーム解析によって診断されたヌーナン症候群の一例2016
- Author(s)
  山澤一樹, 山田洋平, 務台英樹, 松永達雄, 込山修, 高橋孝雄
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田キャンパス（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] メチル化異常に起因するKagami-Ogata症候群においてヒドロキシメチル化の果たす役割の解明2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、深見真紀、中林一彦、緒方勤
- Organizer
  第38回小児遺伝学会
- Place of Presentation
  パシフィコ横浜（横浜市）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] IG-DMRの高メチル化に起因するKagami-Ogata症候群におけるヒドロキシメチル化の探索2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、中林一彦、深見真紀、緒方勤
- Organizer
  第49回日本小児内分泌学会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2015-10-09
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2015
- Author(s)
  Kazuki Yamazawa, Keiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Tsutomu Ogata
- Organizer
  ASHG 2015 Annual Meeting
- Place of Presentation
  Baltimore Convention Center (Baltimore, MD, USA)
- Year and Date
  2015-10-11
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] メチル化異常に起因する小児先天異常症候群においてヒドロキシメチル化が果たす役割2015
- Author(s)
  山澤一樹
- Organizer
  第118回日本小児科学会
- Place of Presentation
  大阪国際会議場（大阪市）
- Year and Date
  2015-04-18
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] インプリンティング調節領域の高メチル化に起因したKagami-Ogata症候群におけるヒドロキシメチル化の探索2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、中林一彦、秦健一郎、深見真紀、緒方勤
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2015
- Author(s)
  Kazuki Yamazawa, Keiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Tsutomu Ogata
- Organizer
  ASHG 2015 Annual Meeting
- Place of Presentation
  Baltimore Convention Center (Baltimore, MD, USA)
- Year and Date
  2015-10-11
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] メチル化異常に起因する小児先天異常症候群においてヒドロキシメチル化が果たす役割2015
- Author(s)
  山澤一樹
- Organizer
  第118回日本小児科学会
- Place of Presentation
  大阪国際会議場（大阪市）
- Year and Date
  2015-04-18
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] インプリンティング調節領域の高メチル化に起因したKagami-Ogata症候群におけるヒドロキシメチル化の探索2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、中林一彦、秦健一郎、深見真紀、緒方勤
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] メチル化異常に起因するKagami-Ogata症候群においてヒドロキシメチル化の果たす役割の解明2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、深見真紀、中林一彦、緒方勤
- Organizer
  第38回小児遺伝学会
- Place of Presentation
  パシフィコ横浜（横浜市）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] IG-DMRの高メチル化に起因するKagami-Ogata症候群におけるヒドロキシメチル化の探索2015
- Author(s)
  山澤一樹、松原圭子、鏡雅代、中林一彦、深見真紀、緒方勤
- Organizer
  第49回日本小児内分泌学会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2015-10-09
- Data Source
  KAKENHI-PROJECT-15K15478
[Presentation] Allele-specific distribution of 5-hydroxymethylcytosine at differentially methylated imprinting control regions2013
- Author(s)
  Kazuki Yamazawa, Mitsuteru Ito, Anne Ferguson-Smith
- Organizer
  第36回日本分子生物学会年会
- Place of Presentation
  神戸国際展示場（兵庫県）
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] インプリンティング調節領域におけるアレル特異的な5-ヒドロキシメチルシトシンの分布の解明2012
- Author(s)
  山澤一樹
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  京王プラザホテル（東京）
- Data Source
  KAKENHI-PROJECT-24890229
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe , Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  International Snmposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  14^<th> International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Year and Date
  2010-03-29
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  International Snmposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo
- Year and Date
  2010-04-01
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  14^<th> International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Year and Date
  2010-03-29
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Silver-Russell症候群を呈する雌性単為生殖キメラおよびBeckwith-Wiedemann症候群を呈する雄性単為生殖キメラ2009
- Author(s)
  山澤一樹,鏡雅代,松原圭子,中林一彦,秦健一郎,肥塚直美,堀川玲子,緒方勤
- Organizer
  第32回日本小児遺伝学会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Campomelic dysplasia患者14例におけるSOX9変異の有無と臨床像の関連性2008
- Author(s)
  和田友香,山澤一樹,鏡雅代,吉形真由美,埴田卓志,澤井英明,宮河真一郎
- Organizer
  第44回日本周産期・新生児医学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群におけるH19-DMRのエピ変異と個体および胎盤表現型の検討2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第111回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  横浜
- Year and Date
  2008-09-30
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,和田友香
- Organizer
  第44回日本周産期・新生児医学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第2回日本エピジェネティクス研究会
- Place of Presentation
  三島
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Silver-Russell syndrome and the IGF2-H19 domain: molecular and clinical studies in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Ogata T
- Organizer
  EMBO Workshop on Genomic Imprinting, No. 44
- Place of Presentation
  Singapore
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,和田友香
- Organizer
  第12回小児分子内分泌研究会
- Place of Presentation
  小樽
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群およびIUGRにおける第7、11番染色体のメチル化解析2007
- Author(s)
  山澤一樹, 鏡雅代, 和田友香
- Organizer
  第43回日本周産期・新生児医学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群におけるH19メチル化可変領域のエビ変異と個体および胎盤表現型の検討2007
- Author(s)
  山澤一樹
- Organizer
  第41回日本小児内分泌学会
- Place of Presentation
  横浜
- Year and Date
  2007-11-08
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 停留精巣患者62例における精巣導体形成遺伝子INSL3とGREATの変異および多型解析2007
- Author(s)
  山澤一樹,和田友香,笹川五十次,上岡克彦,緒方勤
- Organizer
  第52回日本人類遺伝学会大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群におけるH19-メチル化可変領域のエピ変異と個体および胎盤表現型の検討2007
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第41回日本小児内分泌学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] メチル化異常に起因するヒトインプリンティング異常症においてヒドロキシメチル化の果たす役割の解明
- Author(s)
  山澤一樹、鏡雅代、松原圭子、中村明枝、深見真紀
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] ゲノムインプリンティングと先天異常症候群
- Author(s)
  山澤一樹
- Organizer
  TTT meeting
- Place of Presentation
  明治安田生命ビル（東京都）
- Invited
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] メチル化異常に起因するヒトインプリンティング異常症においてヒドロキシメチル化の果たす役割の解明
- Author(s)
  山澤一樹、鏡雅代、松原圭子、中村明枝、深見真紀
- Organizer
  第48回日本小児内分泌学会
- Place of Presentation
  アクトシティ浜松（静岡県浜松市）
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-25713040
[Presentation] Allele-specific distribution of 5-hydroxymethylcytosine at imprinting control regions
- Author(s)
  Kazuki Yamazawa, Anne C Ferguson-Smith
- Organizer
  The 64th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego（アメリカ合衆国）
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25713040

1. KAGAMI Masayo (70399484)

# of Collaborated Projects: 8 results

# of Collaborated Products: 61 results
2. 松原圭子 (90542952)

# of Collaborated Projects: 6 results

# of Collaborated Products: 29 results
3. OGATA Tsutomu (40169173)

# of Collaborated Projects: 3 results

# of Collaborated Products: 33 results
4. 中林一彦 (10415557)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
5. TAKADA Shuji (20382856)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
6. 松永達雄 (90245580)

# of Collaborated Projects: 2 results

# of Collaborated Products: 6 results
7. 井上沙聡 (10870074)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. AKUTSU Hidenori

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. FERGUSON-SMITH Anne C.

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
10. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
11. 平谷伊智朗

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 長尾俊孝

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMAZAWA Kazuki 山澤 一樹

Yamazawa Kazuki 山澤 一樹

Research Projects

Research Products

Co-Researchers

Elucidation of 5mC/5hmC Profiles and Development of Therapeutic Strategies for Imprinting DisordersPrincipal Investigator

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Research on the Creation of Evidence for Remote Genetic Counseling in Genetic Medicine in the Post-COVID Era

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Creation of treatment strategies for imprinting disorders through hydroxymethylation profilingPrincipal Investigator

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Development of biomarkers for lifestyle-related diseases by methylation analysis for SGA children based on the DOHaD theoryPrincipal Investigator

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The role of hydroxymethylation in imprinting diseases caused by abnormal methylationPrincipal Investigator

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Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylationPrincipal Investigator

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Exploring the role of methylation and hydroxymethylation in Hereditary Breast and Ovarian CancerPrincipal Investigator

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The role of hydroxymethylation in congenital anomaly syndromes caused by aberrant methylationPrincipal Investigator

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メチル化異常による先天奇形症候群における5－ヒドロキシメチルシトシンの役割の解明Principal Investigator

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ヒト生殖系列におけるインプリンティング制御機構の解明

Principal Investigator

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Elucidation of the pathogenic mechanism and the clinical spectrum of disorders associated with imprinted genes on human chromosome 14

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Molecular genetic analysis of Silver-Russell syndrome and intrauterine growth retardationPrincipal Investigator

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[Book] 小児疾患診療のための病態生理2－改訂第6版－2021

Author(s)

Total Pages

YAMAZAWA Kazuki 山澤一樹

Yamazawa Kazuki 山澤一樹

[Book] IUGRの遺伝学的要因. SGA性低身長症のマネジメント (藤枝憲二, 板橋家頭夫監修)2009