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Case Reports in Obstetrics and Gynecology|July 21, 2016
Perinatal Management for a Pregnant Woman with an MYH9 DisorderYuka Yamashita, Rei Matsuura, Shinji Kunishima, et al.
Thrombosis Research|December 22, 2009
A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein SHiromi Okada, Shinji Kunishima, Motohiro Hamaguchi, et al.
Internal Medicine (Tokyo, Japan)|June 28, 2019
Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K MutationMari Tanaka, Sho Miki, Hirona Saita, et al.
Nagoya Journal of Medical Science|March 17, 2021
Myh9 R702C is associated with erythroid abnormality with splenomegaly in miceTakeshi Kanematsu, Nobuaki Suzuki, Shogo Tamura, et al.
Pediatric Blood & Cancer|September 4, 2024
Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndromeAtsushi Sakamoto, Toru Uchiyama, Ryohei Futatsugi, et al.
Human Mutation|June 26, 2019
Novel ACTN1 variants in cases of thrombocytopeniaAnne Vincenot, Paul Saultier, Shinji Kunishima, et al.
Journal of Thrombosis and Haemostasis : JTH|November 7, 2019
Knock-in mice bearing constitutively active αIIb(R990W) mutation develop macrothrombocytopenia with severe platelet dysfunctionKeigo Akuta, Kazunobu Kiyomizu, Hirokazu Kashiwagi, et al.
Case Reports in Nephrology|December 31, 2019
Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal FailureShin Teshirogi, Jun Muratsu, Hidenori Kasahara, et al.
Pediatric Blood & Cancer|April 15, 2021
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopeniaRungrote Natesirinilkul, Darintr Sosothikul, Patcharee Komwilaisak, et al.
Blood|April 2, 2011
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopeniaShinji Kunishima, Hirokazu Kashiwagi, Makoto Otsu, et al.
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