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SaveTemple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients
Ogawa, 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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SaveComprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Urakawa, 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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SaveComprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients
Narusawa, 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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SaveMulti-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, 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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SaveExpression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
Hattori, 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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Save(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
Urakawa, 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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SaveImprinting disorders
Eggermann, 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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SaveRisk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
Hara-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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SaveFirst step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Mackay, 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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SaveFamilial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus
Kawashima, 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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SavePathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders
Hara-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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