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A nationwide survey of MYH9-related disease in Japan
Shirai, Yoko, Miura, Kenichiro, Hamada, Riku, Ishikura, Kenji, Kunishima, Shinji, Hattori, Motoshi
Published in Clinical and experimental nephrology (01.01.2024)
Published in Clinical and experimental nephrology (01.01.2024)
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Journal Article
Diagnostic delay of MYH9‐related disorder in Japan
Sakamoto, Atsushi, Uchiyama, Toru, Kaname, Tadashi, Iguchi, Akihiro, Ohara, Osamu, Ishimura, Masataka, Onum, Masaei, Kunishima, Shinji, Ishiguro, Akira
Published in British journal of haematology (01.06.2024)
Published in British journal of haematology (01.06.2024)
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Journal Article
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
Kunishima, Shinji, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Sanada, Masashi, Muramatsu, Hideki, Chiba, Kenichi, Tanaka, Hiroko, Miyazaki, Koji, Sakai, Michio, Ohtake, Masatoshi, Kobayashi, Ryoji, Iguchi, Akihiro, Niimi, Gen, Otsu, Makoto, Takahashi, Yoshiyuki, Miyano, Satoru, Saito, Hidehiko, Kojima, Seiji, Ogawa, Seishi
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Thrombosis from a Prothrombin Mutation Conveying Antithrombin Resistance
Miyawaki, Yuhri, Suzuki, Atsuo, Fujita, Junko, Maki, Asuka, Okuyama, Eriko, Murata, Moe, Takagi, Akira, Murate, Takashi, Kunishima, Shinji, Sakai, Michio, Okamoto, Kohji, Matsushita, Tadashi, Naoe, Tomoki, Saito, Hidehiko, Kojima, Tetsuhito
Published in The New England journal of medicine (21.06.2012)
Published in The New England journal of medicine (21.06.2012)
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Journal Article
TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia
Kunishima, Shinji, Nishimura, Satoshi, Suzuki, Hidenori, Imaizumi, Masue, Saito, Hidehiko
Published in European journal of haematology (01.04.2014)
Published in European journal of haematology (01.04.2014)
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Journal Article
Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders
Kouno, Hiroyoshi, Kunishima, Shinji, Takebe, Junko, Uchiyama, Toru, Kaname, Tadashi, Ishiguro, Akira
Published in International journal of laboratory hematology (01.10.2023)
Published in International journal of laboratory hematology (01.10.2023)
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Journal Article
Spectrum of the Mutations in Bernard-Soulier Syndrome
Savoia, Anna, Kunishima, Shinji, De Rocco, Daniela, Zieger, Barbara, Rand, Margaret L., Pujol-Moix, Nuria, Caliskan, Umran, Tokgoz, Huseyin, Pecci, Alessandro, Noris, Patrizia, Srivastava, Alok, Ward, Christopher, Morel-Kopp, Marie-Christine, Alessi, Marie-Christine, Bellucci, Sylvia, Beurrier, Philippe, de Maistre, Emmanuel, Favier, Rémi, Hézard, Nathalie, Hurtaud-Roux, Marie-Françoise, Latger-Cannard, Véronique, Lavenu-Bombled, Cécile, Proulle, Valérie, Meunier, Sandrine, Négrier, Claude, Nurden, Alan, Randrianaivo, Hanitra, Fabris, Fabrizio, Platokouki, Helen, Rosenberg, Nurit, HadjKacem, Basma, Heller, Paula G., Karimi, Mehran, Balduini, Carlo L., Pastore, Annalisa, Lanza, Francois
Published in Human mutation (01.09.2014)
Published in Human mutation (01.09.2014)
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Journal Article
Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3
Komeno, Yukiko, Uchiyama, Toru, Kawano, Fuyuko, Kurihara, Yuya, Kurokawa, Mineo, Ohara, Osamu, Kunishima, Shinji, Ishiguro, Akira
Published in Annals of hematology (01.10.2023)
Published in Annals of hematology (01.10.2023)
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Journal Article
ANKRD26-related thrombocytopenia and myeloid malignancies
Noris, Patrizia, Favier, Remi, Alessi, Marie-Christine, Geddis, Amy E., Kunishima, Shinji, Heller, Paula G., Giordano, Paola, Niederhoffer, Karen Y., Bussel, James B., Podda, Gian Marco, Vianelli, Nicola, Kersseboom, Rogier, Pecci, Alessandro, Gnan, Chiara, Marconi, Caterina, Auvrignon, Anne, Cohen, William, Yu, Jennifer C., Iguchi, Akihiro, Miller Imahiyerobo, Allison, Boehlen, Francoise, Ghalloussi, Dorsaf, De Rocco, Daniela, Magini, Pamela, Civaschi, Elisa, Biino, Ginevra, Seri, Marco, Savoia, Anna, Balduini, Carlo L.
Published in Blood (12.09.2013)
Published in Blood (12.09.2013)
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Journal Article
Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly
Nagahama, Kiyotaka, Kunishima, Shinji, Maeda, Miho, Matsumoto, Tae, Shimizu, Akira, Yanagihara, Takeshi, Yoshizaki, Kaoru, Tsuchiya, Masami, Terasaki, Mika
Published in Journal of Nippon Medical School (25.12.2021)
Published in Journal of Nippon Medical School (25.12.2021)
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Journal Article
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Yamano, Shio, Iguchi, Akihiro, Ishikawa, Kotaro, Sakamoto, Atsushi, Uchiyama, Toru, Yanagi, Kumiko, Kaname, Tadashi, Kunishima, Shinji, Ishiguro, Akira
Published in International journal of hematology (01.04.2023)
Published in International journal of hematology (01.04.2023)
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Journal Article
Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation
Taniguchi, Keisuke, Hagihara, Koichiro, Kunishima, Shinji, Shimada, Hiroki, Nishikawa, Seira, Tanaka, Mari, Iwanari, Sachio, Saita, Hirona, Ikeda, Masaki, Takeoka, Hiroya, Miki, Sho
Published in Internal Medicine (15.10.2019)
Published in Internal Medicine (15.10.2019)
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Journal Article
Diagnostic biomarker for ACTN1 macrothrombocytopenia
Kunishima, Shinji, Kitamura, Katsumasa, Yasutomi, Motoko, Kobayashi, Ryoji
Published in Blood (26.11.2015)
Published in Blood (26.11.2015)
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Journal Article
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Muramatsu, Hideki, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Doisaki, Sayoko, Narita, Atsushi, Sakaguchi, Hirotoshi, Kawashima, Nozomu, Wang, Xinan, Xu, Yinyan, Chiba, Kenichi, Tanaka, Hiroko, Hama, Asahito, Sanada, Masashi, Takahashi, Yoshiyuki, Kanno, Hitoshi, Yamaguchi, Hiroki, Ohga, Shouichi, Manabe, Atsushi, Harigae, Hideo, Kunishima, Shinji, Ishii, Eiichi, Kobayashi, Masao, Koike, Kenichi, Watanabe, Kenichiro, Ito, Etsuro, Takata, Minoru, Yabe, Miharu, Ogawa, Seishi, Miyano, Satoru, Kojima, Seiji
Published in Genetics in medicine (01.07.2017)
Published in Genetics in medicine (01.07.2017)
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Journal Article
Microtubule polyglutamylation and acetylation drive microtubule dynamics critical for platelet formation
van Dijk, Juliette, Bompard, Guillaume, Cau, Julien, Kunishima, Shinji, Rabeharivelo, Gabriel, Mateos-Langerak, Julio, Cazevieille, Chantal, Cavelier, Patricia, Boizet-Bonhoure, Brigitte, Delsert, Claude, Morin, Nathalie
Published in BMC biology (18.10.2018)
Published in BMC biology (18.10.2018)
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Journal Article
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia
Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohshita, Hironori, Negishi, Yutaka, Shinohara, Tsutomu, Hattori, Ayako, Kato, Takenori, Inukai, Sachiko, Kitamura, Katsumasa, Kawai, Tomoki, Ohara, Osamu, Kunishima, Shinji, Saitoh, Shinji
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
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Journal Article
Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia
Niwa, Kaori, Toyoda, Hidemi, Kohso, Atsushi, Okumura, Yosuke, Kunishima, Shinji, Hirayama, Masahiro
Published in Frontiers in pediatrics (2024)
Published in Frontiers in pediatrics (2024)
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Journal Article
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization
Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia
Published in Blood (29.01.2015)
Published in Blood (29.01.2015)
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Journal Article