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51

Time course on short-term adaptation in cochlear nucleus neurons of the cat

Tanahashi, Teiji, Matsumuro, Shigeisa, Kunishima, Shinji

Journal:

Neuroscience Research Supplements

Year:

1986

Language:

english

File:

PDF, 79 KB

english, 1986

52

G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore et al.

Kunishima, Shinji, Tomii, Toshihiro, Kudo, Kazuko, Saito, Hidehiko

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 282 KB

english, 2012

53

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

Kashiwagi, Hirokazu, Kunishima, Shinji, Kiyomizu, Kazunobu, Amano, Yoshiro, Shimada, Hiroyuki, Morishita, Masashi, Kanakura, Yuzuru, Tomiyama, Yoshiaki

Journal:

Molecular Genetics & Genomic Medicine

Year:

2013

Language:

english

File:

PDF, 2.67 MB

english, 2013

54

Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria

Abe, Yu, Kikuchi, Atsuo, Kobayashi, Satoru, Wakusawa, Keisuke, Tanaka, Soichiro, Inui, Takehiko, Kunishima, Shinji, Kure, Shigeo, Haginoya, Kazuhiro

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 383 KB

english, 2014

55

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

Kunishima, Shinji, Imai, Tsuyoshi, Kobayashi, Ryoji, Kato, Motohiro, Ogawa, Seishi, Saito, Hidehiko

Journal:

Pediatrics International

Year:

2013

Language:

english

File:

PDF, 361 KB

english, 2013

56

Mutations in MYH9 Exons 1, 16, 26, and 30 Are Infrequently Found in Japanese Patients with Nonsyndromic Deafness

Kunishima, Shinji, Matsunaga, Tatsuo, Ito, Yoshimi, Saito, Hidehiko

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

57

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents

Kunishima, Shinji, Kitamura, Katsumasa, Matsumoto, Tae, Sekine, Takashi, Saito, Hidehiko

Journal:

British Journal of Haematology

Year:

2014

Language:

english

File:

PDF, 184 KB

english, 2014

58

The first two cases ofMYH9disorders in Thailand: an international collaborative study

Sirachainan, Nongnuch, Komwilaisak, Patcharee, Kitamura, Katsumasa, Hongeng, Suradej, Sekine, Takashi, Kunishima, Shinji

Journal:

Annals of Hematology

Year:

2015

Language:

english

File:

PDF, 345 KB

english, 2015

59

The synergistic effect of BCR signaling inhibitors combined with an HDAC inhibitor on cell death in a mantle cell lymphoma cell line

Hagiwara, Kazumi, Kunishima, Shinji, Iida, Hiroatsu, Miyata, Yasuhiko, Naoe, Tomoki, Nagai, Hirokazu

Journal:

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

60

First Turkish Case of Bernard-Soulier Syndrome Associated with GPIX N45S

Da&gbreve, &inodot, stan, Necati, Kunishima, Shinji

Journal:

Acta Haematologica

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007

61

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Oda, Hirotsugu, Sato, Tatsuhiro, Kunishima, Shinji, Nakagawa, Kenji, Izawa, Kazushi, Hiejima, Eitaro, Kawai, Tomoki, Yasumi, Takahiro, Doi, Hiraku, Katamura, Kenji, Numabe, Hironao, Okamoto, Shinya, N

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 633 KB

english, 2015

62

Further Characterization of Anti-Platelet Monoclonal Antibody HPL5 as Anti-Glycoprotein V Antibody

Kunishima, Shinji, Motoyama, Masako, Takagi, Akira, Hamaguchi, Motohiro, Kojima, Tetsuhito, Saito, Hidehiko

Journal:

Acta Haematologica

Year:

2006

Language:

english

File:

PDF, 78 KB

english, 2006

63

Bernard-Soulier Syndrome due to Compound Heterozygosity for a Novel Glycoprotein Ib� Mutation

Sato, Tetsuji, Kunishima, Shinji, Shirayama, Rie, Ichikawa, Shun, Sakai, Michio, Kusuhara, Koichi

Journal:

Acta Haematologica

Year:

2014

Language:

english

File:

PDF, 129 KB

english, 2014

64

FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia

Kunishima, Shinji, Ito-Yamamura, Yoshimi, Hayakawa, Akira, Yamamoto, Toshimichi, Saito, Hidehiko

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 217 KB

english, 2010

65

Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia

Kuzmanovic, Milos, Kunishima, Shinji, Putnik, Jovana, Stajic, Natasa, Paripovic, Aleksandra, Bogdanovic, Radovan

Year:

2014

File:

PDF, 320 KB

2014

66

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, To

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 663 KB

english, 2012

67

A novelMYH9mutation in a patient withMYH9disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

Yamanouchi, Jun, Hato, Takaaki, Kunishima, Shinji, Niiya, Toshiyuki, Nakamura, Hisashi, Yasukawa, Masaki

Journal:

Annals of Hematology

Year:

2015

Language:

english

File:

PDF, 328 KB

english, 2015

68

A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis

Hatta, Kyoko, Kunishima, Shinji, Suganuma, Hiroki, Tanaka, Noboru, Ohkawa, Natsuki, Shimizu, Toshiaki

Journal:

Thrombosis Research

Year:

2015

Language:

english

File:

PDF, 782 KB

english, 2015

69

A case ofMYH9disorders caused by a novel mutation (p.K74E)

Kanematsu, Takeshi, Suzuki, Nobuaki, Yoshida, Tadao, Kishimoto, Mayuko, Aoki, Tomohiro, Ogawa, Mika, Kagami, Yoshitoyo, Kiyoi, Hitoshi, Matsushita, Tadashi, Kunishima, Shinji

Journal:

Annals of Hematology

Year:

2016

Language:

english

File:

PDF, 419 KB

english, 2016

70

A Japanese pedigree with a p.A95V mutation in theMYH9gene demonstrates inherited macrothrombocytopenia without Alport manifestations

Yokoi, Setsuri, Kunishima, Shinji, Takahashi, Yoshiyuki, Morishita, Masashi, Kojima, Seiji

Journal:

Annals of Hematology

Year:

2016

Language:

english

File:

PDF, 328 KB

english, 2016

71

Late onset and high-frequency dominant hearing loss in a family withMYH9disorder

Wasano, Koichiro, Matsunaga, Tatsuo, Ogawa, Kaoru, Kunishima, Shinji

Journal:

European Archives of Oto-Rhino-Laryngology

Year:

2016

Language:

english

File:

PDF, 778 KB

english, 2016

72

ACTN1rod domain mutation associated with congenital macrothrombocytopenia

Yasutomi, Motoko, Kunishima, Shinji, Okazaki, Shintaro, Tanizawa, Akihiko, Tsuchida, Shinya, Ohshima, Yusei

Journal:

Annals of Hematology

Year:

2016

Language:

english

File:

PDF, 613 KB

english, 2016

73

Rapid Detection of Plasma Glycocalicin by a Latex Agglutination Test: A Useful Adjunct in the Differential Diagnosis of Thrombocytopenia

Kunishima, Shinji, Kobayashi, Sentaro, Takagi, Akira, Naoe, Tomoki, Ohno, Ryuzo

Journal:

American Journal of Clinical Pathology

Year:

1993

Language:

english

File:

PDF, 686 KB

english, 1993

74

A Unique Immunofluorescence Method Promotes Accurate Diagnosis in MYH9 Disorders: A Case Report

Yoshinari, Miyako, Kunishima, Shinji, Miyabayashi, Shigeaki, Saito, Hidehiko, Tsuchiya, Shigeru

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2004

Language:

english

File:

PDF, 374 KB

english, 2004

75

Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure

Makino, Shigeru, Kunishima, Shinji, Ikumi, Aki, Awaguni, Hitoshi, Shinozuka, Jun, Tanaka, Shin-ichiro, Maruyama, Rikken, Imashuku, Shinsaku

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 3.03 MB

english, 2015

76

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibα gene in a patient with Bernard–Soulier syndrome

Imai, Chihaya, Kunishima, Shinji, Takachi, Takayuki, Iwabuchi, Haruko, Nemoto, Tae, Imamura, Masaru, Uchiyama, Makoto

Journal:

Blood Coagulation & Fibrinolysis

Year:

2009

Language:

english

File:

PDF, 152 KB

english, 2009

77

Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder

Okano, Satomi, Takase, Masashi, Iseki, Kenichi, Toriumi, Naohisa, Kaneda, Makoto, Kunishima, Shinji

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

78

Advances in the understanding of MYH9 disorders

Kunishima, Shinji, Saito, Hidehiko

Journal:

Current Opinion in Hematology

Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

79

Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy

Ogawa, Yoshiyuki, Kunishima, Shinji, Yanagisawa, Kunio, Osaki, Yohei, Uchiyama, Yuri, Matsumoto, Naomichi, Tokiniwa, Hideaki, Horiguchi, Jun, Nojima, Yoshihisa, Handa, Hiroshi

Journal:

International Journal of Hematology

Year:

2017

Language:

english

File:

PDF, 855 KB

english, 2017

80

ELISA for Type-Specific Group B Streptococcal Antibody and Its Clinacal Significance

OOE, Yukio, NISHIYAMA, Yasunobu, SUGIYAMA, Akiko, SIMIZU, Seiichi, KUNISHIMA, Shinji, ITOU, Toshiko, SUGIYAMA, Masako

Journal:

Kansenshogaku zasshi

Year:

1990

File:

PDF, 3.32 MB

1990

81

Familial Macrothrombocytopenia with Unusually Elongated Mitochondria.

YAMADA, Katsunori, MIWA, Kazuma, WAKITA, Yoshitsugu, IKOMA, Yoshio, FUKUI, Yohichi, OKUYAMA, Makio, KATO, Kazuo, ICHIHASHI, Takuji, KUNISHIMA, Shinji, SHAMOTO, Mikihiro

Journal:

Internal Medicine

Year:

1995

Language:

english

File:

PDF, 1.89 MB

english, 1995

82

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

Greinacher, Andreas, Pecci, Alessandro, Kunishima, Shinji, Althaus, Karina, Nurden, Paquita, Balduini, Carlo L, Bakchoul, Tamam

Journal:

Journal of Thrombosis and Haemostasis

Year:

2017

Language:

english

File:

PDF, 643 KB

english, 2017

83

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

Uchiyama, Yuri, Ogawa, Yoshiyuki, Kunishima, Shinji, Shiina, Masaaki, Nakashima, Mitsuko, Yanagisawa, Kunio, Yokohama, Akihiko, Imagawa, Eri, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miy

Journal:

British Journal of Haematology

Year:

2017

Language:

english

File:

PDF, 229 KB

english, 2017

84

Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity ofMYH9variants

Kunishima, Shinji, Yusuke, Okuno, Muramatsu, Hideki, Kojima, Daiei, Nagai, Noriko, Takahashi, Yoshiyuki, Kojima, Seiji

Journal:

Annals of Hematology

Year:

2017

Language:

english

File:

PDF, 356 KB

english, 2017

85

A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations

Kanda, Kenji, Kunishima, Shinji, Sato, Aya, Abe, Daisuke, Nishijima, Setsuko, Ishigami, Tsuyoshi

Journal:

Human Genome Variation

Year:

2017

Language:

english

File:

PDF, 507 KB

english, 2017

86

Early Intake of Radiocesium by Residents Living Near the TEPCO Fukushima Dai-Ichi Nuclear Power Plant after the Accident. Part 1

Kim, Eunjoo, Kurihara, Osamu, Kunishima, Naoaki, Nakano, Takashi, Tani, Kotaro, Hachiya, Misao, Momose, Takumaro, Ishikawa, Tetsuo, Tokonami, Shinji, Hosoda, Masahiro, Akashi, Makoto

Journal:

Year:

2016

Language:

english

File:

PDF, 1.96 MB

english, 2016

87

Diagnosis and treatment of MYH9- RD in an Australasian cohort with thrombocytopenia

Rabbolini, David J., Chun, Yenna, Latimer, Maya, Kunishima, Shinji, Fixter, Kathleen, Valecha, Bhavia, Tan, Peter, Chew, Lee Ping, Kile, Benjamin T., Burt, Rachel, Radhakrishnan, Kottayam, Bird, Rober

Journal:

Year:

2017

Language:

english

File:

PDF, 871 KB

english, 2017

88

Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders

Hao, Jihong, Kada, Akiko, Kunishima, Shinji

Journal:

Annals of Hematology

Year:

2017

Language:

english

File:

PDF, 427 KB

english, 2017

89

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Ichimiya, Yuko, Wada, Yuka, Kunishima, Shinji, Tsukamoto, Keiko, Kosaki, Rika, Sago, Haruhiko, Ishiguro, Akira, Ito, Yushi

Journal:

Journal of Medical Case Reports

Year:

2018

Language:

english

File:

PDF, 749 KB

english, 2018

90

GPIbα is required for platelet-mediated hepatic thrombopoietin generation

Xu, Miao, Li, June, Neves, Miguel Antonio Dias, Zhu, Guangheng, Carrim, Naadiya, Yu, Ruoying, Gupta, Sahil, Marshall, John, Rotstein, Ori, Peng, Jun, Hou, Ming, Kunishima, Shinji, Ware, Jerry, Branch,

Journal:

Year:

2018

Language:

english

File:

PDF, 7.85 MB

english, 2018

91

Establishment of Mouse Model of MYH9 Disorders: Heterozygous R702C Mutation Provokes Macrothrombocytopenia with Leukocyte Inclusion Bodies, Renal Glomerulosclerosis and Hearing Disability

Suzuki, Nobuaki, Kunishima, Shinji, Ikejiri, Makoto, Maruyama, Shoichi, Sone, Michihiko, Takagi, Akira, Ikawa, Masahito, Okabe, Masaru, Kojima, Tetsuhito, Saito, Hidehiko, Naoe, Tomoki, Matsushita, Ta

Journal:

Year:

2013

Language:

english

File:

PDF, 11.86 MB

english, 2013

92

Perinatal Management for a Pregnant Woman with an MYH9 Disorder

Yamashita, Yuka, Matsuura, Rei, Kunishima, Shinji, Oikawa, Yoshie, Ariizumi, Hirotsugu, Hamada, Shoko, Shirato, Nahoko, Matsuoka, Ryu, Ogawa, Kohichi, Sekizawa, Akihiko

Journal:

Case Reports in Obstetrics and Gynecology

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

93

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May–Hegglin anomaly

Kumemura, Masateru, Omae, Takeshi, Kou, Keito, Sakuraba, Sonoko, Niimi, Naoko, Kunishima, Shinji

Journal:

Journal of Anesthesia

Year:

2018

Language:

english

File:

PDF, 648 KB

english, 2018

94

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

Uchiyama, Yuri, Yanagisawa, Kunio, Kunishima, Shinji, Shiina, Masaaki, Ogawa, Yoshiyuki, Nakashima, Mitsuko, Hirato, Junko, Imagawa, Eri, Fujita, Atsushi, Hamanaka, Kohei, Miyatake, Satoko, Mitsuhashi

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 2.53 MB

english, 2018

95

Macrothrombocytopenia With Congenital Bilateral Cataracts

Aoki, Takahiro, Kunishima, Shinji, Yamashita, Yoshiharu, Minamitani, Kanshi, Ota, Setsuo

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2017

Language:

english

File:

PDF, 144 KB

english, 2017

96

Homozygous Pro74 → Arg Mutation in the Platelet Glycoprotein Ibβ Gene Associated with Bernard-Soulier Syndrome

Kunishima, Shinji, Tomiyama, Yoshiaki, Honda, Shigenori, Fukunishi, Mariko, Hara, Junichi, Inoue, Chikako, Kamiya, Tadashi, Saito, Hidehiko

Journal:

Thrombosis and Haemostasis

Year:

2000

Language:

english

File:

PDF, 143 KB

english, 2000

97

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, Cla

Journal:

Year:

2018

Language:

english

File:

PDF, 2.78 MB

english, 2018

98

Splenic Marginal Zone Lymphoma with Acquired von Willebrand Syndrome Diagnosed via Splenic Bleeding

Komeno, Yukiko, Shibuya, Naoki, Uryu, Hideki, Yamada, Haruki, Toda, Takeo, Shibasaki, Masayuki, Kunishima, Shinji, Iihara, Kuniko, Ryu, Tomiko

Journal:

Internal Medicine

Year:

2017

Language:

english

File:

PDF, 847 KB

english, 2017

99

Novel ACTN1 variants in cases of thrombocytopenia

Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud-Roux, Marie-Françoise, Roussel, Alain, Schlegel, Nicole, Alessi, Marie-Christine

Journal:

Year:

2019

Language:

english

File:

PDF, 717 KB

english, 2019

100

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation: A Case Report

Tanaka, Mari, Miki, Sho, Saita, Hirona, Shimada, Hiroki, Nishikawa, Seira, Taniguchi, Keisuke, Hagihara, Koichiro, Iwanari, Sachio, Ikeda, Masaki, Kunishima, Shinji, Takeoka, Hiroya

Journal:

Internal Medicine

Year:

2019

Language:

english

File:

PDF, 1.04 MB

english, 2019