16年10月14日｜業績

2016年　業績　New! 原著（英文・和文）を更新しました←Click!

英文

 Fukumura S, Kato M, Kawamura K, Tsuzuki A, Tsutsumi H(2016)
A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortial Malformations and Unilateral Hypohidrosis
Child Neurology Open 3(0):1-3

Bamba Y, Shofuda T, Kato M, Pooh R K, Tateishi Y, Takanashi J, Utsunomiya H, Sumida M, Kanematsu D, Suemizu H, Higuchi Y, Akamatsu W, Gallagher D, Miller F D, Yamasaki M, Kanemura Y, Okano H(2016)
In vitro Characterization of Neutrite Extention Using Induced Pluripotent Stem Cells Derived from Lissencephaly Patients with TUBA1A Missense Mutations
Mol Brain 9(1): 70

Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong W P, Shiraishi H, Yuasa S, Matsumoto H, Beng K T, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N (2016)
Impaired Neuronal KCC2 Function by Biallellic SLC12A5 Mutations in Migrating Focal Seizures and Severe Developmental Delay
Sci Rep 6: 30072

Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito M K, Hosoi H (2016)
Mislocalization of Syntaxin-1 and Impaired Neurite Growth Observed in Human iPSC model for STXBP1-related epiletic encephalopathy
Epilepsia 57(4): e81-86

Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N (2016)
De novo GABRA1 mutations in Ohtahara and West Syndromes
Epilepcia 57(4): 566-573

Makrythanasis P*, Kato M*, Zaki M S, Saitsu H, Nakamura K, Santoni F A, Miyatake S, Nakashima M, Issa M Y, Guipponi M, Letourneau A, Logan C V, Roberts N, Parry D A, Johnson C A, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis S E, Murakami Y (2016) (*co-first author)
Pathogenic Vaiants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Am J Hum Genet 98(4): 615-626

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T (2016)
Identification of Novel Mutations in the LRR-Cap Domain of C21of2 in Japanese Patients with Retinitis Pigmentosa and Cone-Rod Dystrophy
Invest Ophthalmol Vis Sci 57(10):4255-4263

Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N (2016)
WDR45 Mutations in Three Male Patients with West Syndrome
J Hum Genet 61(7): 653-661

Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S (2016)
Novel Splicing Mutation in the ASXL3 Gene Causing Bainbridge-Ropers Syndrome
Am J Med Genet A170(7): 1863-1867

Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N (2016)
High Prevalence of Genetic Alterations in Early-Onset Epiletic Encephalopathies Associated with Infantile movement Disorders
Brain Dev 38(3): 285-292

Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N (2016)
Somatic Mutations in GLI3 and OFD1 Involved in Sonic Hedgehog Signaling Cause Hypothalamic Hamartoma
Ann Clin Transl Neurol 3(5): 356-365

Uematsu M, Haginoya K, Kikuchi A, Hino-Fukuyo N, Ishii K, Shiihara T, Kato M, Kamei A, Kure S (2016)
Asymtomatic Congenital Cytomegalovirus Infection with Neurological Sequelae: A Retrospecitve Study Using Umblical Cord
Brain Dev 38(9): 819-826

Abe Y, Iyoda M, Kozu K, Hibino S, Hihara K, Yamaguchi Y, Yamamura T, Minamikawa S, Iijima K, Shibata T, Itabashi K (2016)
A Novel Mutations in a Japanese Family with X-linked Alport Syndrome
Intern Med 2016; 55: 2843-2847

Dobashi K, Takahashi K, Nagahara K, Tanaka D, Itabashi K (2016)
Evaluation of Hip/HeightP Ratio as an Index for Adiposity and Metabolic Complications in Obese Children: Comparison with Waist-related Indices
J Atheroscler Thomb 2016 Jun 8 ［epub ahead of print］

Nagahara K, Dobashi K, Ishikawa T, Nakano Y, Abe Y, Tanaka D, Itabashi K (2016)
AICAR Attenuates TNF-α Induced Inappropriate Secretion of Monocyte Chemoattractand Protein-1 and Adiponectin in 3T3-L1 Adipocytes
J Atheroscler Thomb 2016 May 11［epub ahead of print］

Nagahara K, Harada Y, Futami T, Takagi M, Nishimura G, Hasegawa Y (2016)
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.
Clin Pediatr Endocrinol 2016; 25(3)

Hibino S, Nagai T, Yamakawa S, Ito H, Tanaka K, Uemura O (2016)
Pharmacokinetics of mycophenolic acid in children with clinically stable idiopathic nephrotic syndrome receiving cyclosporine.
Clin Exp Nephrol 2016 Apr 22 ［epub ahead of print］

Nakano Y, Itabashi K, Dobashi K, Mizuno K (2016)
“Longitudinal changes in adiponectin multimer level in preterm infants.”
Early Hum Dev 2016 Apr;95:29-33

Yamakawa T, Itabashi K, Kusuda S; Neonatal Research Network of Japan (2016)
Mortality and morbidity risks vary with birth weight standard deviation score in growth restricted extremely preterm infants.
Early Hum Dev. Jan 92:7-11.

Abe, Y., H. Wakabayashi, Y. Ogawa, A. Machida, M. Endo, T. Tamai, S. Sakurai, S. Hibino, T. Mikawa, Y. Watanabe, K. Ugajin, K. Fukuchi, and K. Itabashi(2016)
Validation of Cefazolin as Initial Antibiotic for First Upper Urinary Tract Infection in Children.
Global Pediatric Health 3: 1–7 

Dobashi K.
“Evaluation of Obesity in School-Age Children.”
J Atheroscler Thromb. 2016 Jan 6;23(1):32-8.

和文

庄司圭介，齋藤なか，堀口祥，新井啓，佐藤聖子，佐藤紘一，吉田宏，伊藤末志，眞柄慎一，和田雅樹，中村和幸，加藤光広
SCN2Aに変異を認めた新生児期発症のリドカイン依存性てんかんの1例
日本小児科学会雑誌 120巻6号 Page 993-999(2016)

板橋家頭夫、宮沢篤生、和田和子、楠田聡（ハイリスク新生児医療全国調査小委員会）
2010年に出生した超低出生体重児の死亡率
日本小児科学会雑誌 120巻8号 Page1254-1264(2016)

日比野 聡, 阿部 祥英, 板橋 家頭夫, 渡邉 修一郎, 山口 裕
学童期に蛋白尿と高血圧を認めた超低出生体重児の1例
日本小児科学会雑誌 120巻6号 Page969-977(2016)

阿部 祥英, 副島 賢和, 板橋 家頭夫
「研修医のマナー」の講義を通して考える臨床教員の客観的評価に関する方策
 臨床評価 43巻2号 Page607-611(2016)

渡邊 佳孝, 板橋 家頭夫, 滝 元宏, 宮沢 篤生, 中野 有也, 村瀬 正彦, 山川 琢司
極低出生体重児における修正40週の体格と脳容量に関する検討
日本新生児成育医学会雑誌 28巻1号 Page31-38(2016)

福井舞，中村俊紀，阿部祥英，矢川綾子，山崎武司，三川武志，岩崎順弥，板橋家頭夫
大腿骨骨髄炎を続発した川崎病
日本小児科学会雑誌 120巻7号 Page 1094-1098(2016)

宮沢篤生，今井孝成，板橋家頭夫
新生児消化管アレルギーの診断における経口負荷試験陽性の予測因子に関する前方視的多施設調査
アレルギー 65巻6号 Page776-783(2016)

滝元宏，鈴木学，清水武，中野有也、宮沢篤生，村瀬正彦，櫻井基一郎，三浦文宏，水野克己，板橋家頭夫
極低出生体重児におけるリン酸補正液変更前後の血清リン値の比較
日本小児臨床薬理学会雑誌　28巻1号 Page87-94(2016)

福井舞，澤田まどか，曽我恭司，梅田陽
RSウイルスに罹患し人工呼吸管理を要した気道狭窄病変を伴う先天性心疾患の2例
日本小児科学会雑誌　120巻4号 Page765-770(2016)

清水麻由，今井孝成，山崎明香，矢川綾子，宮沢篤生，中村俊紀，北條菜穂，石川良子，神谷太郎，板橋家頭夫
当施設でインフルエンザワクチンを接種した重症鶏卵アレルギー児に関する前向きケースシリーズ研究
アレルギー　65巻2号 Page128-133(2016)