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Masayo Kagami

national center for child health & development - japan

33H-index
187Paper Count
4.6KCitation Count
Published Papers 61
Publication Date
A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes
err2025-11-19
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errTatsuki Urakawa; Atsushi Hattori; Yasuko Ogiwara; Hayate Masubuchi; Mizuho Igarashi; Sayuri Nakamura; Kaori Hara-Isono; Keisuke Ishiwata; Hiroko Ogata-Kawata; Hiromi Kamura; Yoko Kuroki; Kazuhiko Nakabayashi; Maki Fukami; Masayo Kagami
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Prenatal suspicion of Kagami-Ogata syndrome based on Robertsonian translocation (14;22)
err2025-11-17
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PREAI
errOdagiri, Shizuka; Tamura, Kentaro; Nagaoka, Mitsuhide; Sasamoto, Kyota; Arai, Eri N.; Kagami, Masayo; Yoshida, Taketoshi
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Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures
err2025-11-09
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errKaori Hara-Isono; Takanobu Inoue; Akie Nakamura; Tomoko Fuke; Kazuki Yamazawa; Keiko Matsubara; Maki Fukami; Tsutomu Ogata; Tomoko Kawai; Masayo Kagami
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Chromosomal and hormonal factors involved in human sexual dimorphism
err2025-11-01
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PREAI
errFukami, Maki; Okamura, Kohji; Sasaki, Shoko; Kagami, Masayo; Dateki, Sumito
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Association between imprinting disorders and assisted reproductive technologies
err2025-03-01
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errOAAI
errKagami, Masayo; Hara-Isono, Kaori; Sasaki, Aiko; Amita, Mitsuyoshi
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An unstable variant of GAP43 leads to neurodevelopmental deficiency
err2024-12-30
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errNoda, Mariko; Matsumoto, Ayumi; Ito, Hidenori; Kagami, Masayo; Tajima, Toshihiro; Matsumura, Takayoshi; Yamagata, Takanori; Nagata, Koh-ichi
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Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients
err2024-12-18
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errOgawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
err2024-10-05
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errUrakawa, Tatsuki; Soejima, Hidenobu; Yamoto, Kaori; Hara-Isono, Kaori; Nakamura, Akie; Kawashima, Sayaka; Narusawa, Hiromune; Kosaki, Rika; Nishimura, Yutaka; Yamazawa, Kazuki; Hattori, Tetsuo; Muramatsu, Yukako; Inoue, Takanobu; Matsubara, Keiko; Fukami, Maki; Saitoh, Shinji; Ogata, Tsutomu; Kagami, Masayo
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Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients
err2024-09-26
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errNarusawa, Hiromune; Ogawa, Tomoe; Yagasaki, Hideaki; Nagasaki, Keisuke; Urakawa, Tatsuki; Saito, Tomohiro; Soneda, Shun; Kinjo, Saori; Sano, Shinichiro; Mamada, Mitsukazu; Terashita, Shintaro; Dateki, Sumito; Narumi, Satoshi; Naiki, Yasuhiro; Horikawa, Reiko; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
err2024-08-01
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errMackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep
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Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review
err2024-06-05
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errYamoto, Kaori; Saitsu, Hirotomo; Ohkubo, Yumiko; Kagami, Masayo; Ogata, Tsutomu
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Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
err2024-04-05
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errHattori, Atsushi; Seki, Atsuhito; Inaba, Naoto; Nakabayashi, Kazuhiko; Takeda, Kazue; Tatsusmi, Kuniko; Naiki, Yasuhiro; Nakamura, Akie; Ishiwata, Keisuke; Matsumoto, Kenji; Nasu, Michiyo; Okamura, Kohji; Michigami, Toshimi; Katoh-Fukui, Yuko; Umezawa, Akihiro; Ogata, Tsutomu; Kagami, Masayo; Fukami, Maki
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(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
err2023-12-01
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PREAI
errUrakawa, Tatsuki; Sano, Shinichiro; Kawashima, Sayaka; Nakamura, Akie; Shima, Hirohito; Ohta, Motoki; Yamada, Yuki; Nishida, Ai; Narusawa, Hiromune; Ohtsu, Yoshiaki; Matsubara, Keiko; Dateki, Sumito; Maruo, Yoshihiro; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo
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Imprinting disorders
err2023-06-29
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PREAI
errEggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloise; Riccio, Andrea; Tumer, Zeynep; Kalish, Jennifer M.; Tauber, Maithe; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam
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Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
err2023-05-06
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errHara-Isono, Kaori; Matsubara, Keiko; Nakamura, Akie; Sano, Shinichiro; Inoue, Takanobu; Kawashima, Sayaka; Fuke, Tomoko; Yamazawa, Kazuki; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
err2022-11-07
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errMackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frederic; Netchine, Irene; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Veronique; Tauber, Maithe; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tumer, Zeynep; Riccio, Andrea; Maher, Eamonn R.; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I. Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas
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CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR
err2022-07-29
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PREAI
errHara-Isono, Kaori; Yamazawa, Kazuki; Tanaka, Satsuki; Nishi, Eriko; Fukami, Maki; Kagami, Masayo
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Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus
err2022-07-20
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PREAI
errKawashima, Sayaka; Yuno, Akiko; Sano, Shinichiro; Nakamura, Akie; Ishiwata, Keisuke; Kawasaki, Tomoyuki; Hosomichi, Kazuyoshi; Nakabayashi, Kazuhiko; Akustu, Hidenori; Saitsu, Hirotomo; Fukami, Maki; Usui, Takeshi; Ogata, Tsutomu; Kagami, Masayo
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Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
err2022-05-18
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errHara-Isono, Kaori; Nakamura, Akie; Fuke, Tomoko; Inoue, Takanobu; Kawashima, Sayaka; Matsubara, Keiko; Sano, Shinichiro; Yamazawa, Kazuki; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo
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A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B
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IF3.6
err2022-04-01
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errCampbell, Devon; Reyes, Monica; Kaygusuz, Sare Betul; Abali, Saygin; Guran, Tulay; Bereket, Abdullah; Kagami, Masayo; Turan, Serap; Juppner, Harald
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