FUKUSHIMA, YOSHIMITSU | Shinshu University Researcher Directory

Academic Organization		TEL
Education and Research Organization	School of Medicine Department of Medical Genetics	FAX
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Assigned Class: School of Medicine　Department of Preventive Medicine and Public Health

Research Field: Human Genetics
Medical Genetics
Pediatrics

Academic Societies: Academic Societies
American Society of Human Genetics
European Society of Human Genetics
HUGO Japan

Academic Background: College
Hokkaido University , (Faculty of Medicine) , 1977

Degree
Doctor of Medicine

Research

Books, Articles, etc.: Books
遺伝カウンセリングマニュアル　改訂第2版
南江堂 2003(Aug.)
Author:新川詔夫，福嶋義光（編集）

Articles
腹腔鏡下リスク低減卵管卵巣摘出術により両側卵管采に漿液性卵管上皮内病変が発見された遺伝性乳癌卵巣癌症候群の１例
信州医学雑誌,67(3):209-215 2019(Jun.)
Author:鹿島大靖, 岡賢二, 品川真奈花, 山中桜, 小野元紀, 竹内穂高, 井田耕一, 樋口正太郎, 山田靖, 小原久典, 菊地範彦, 宮本強, 橘涼太, 福嶋義光, 古庄知己, 家里明日美, 伊藤研一, 浅香志穂, 上原剛, 塩沢丹里

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Eur J Med Genet,60(10):521-526 2017(Oct.)
Author:Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(11):918-923 2016(Nov.)
Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI.

Evidence-based clinical practice guidelines for polycystic kidney disease 2014.
Clin Exp Nephrol,20(4):493-509 2016(Aug.)
Author:Horie S, Mochizuki T, Muto S, Hanaoka K, Fukushima Y, Narita I, Nutahara K, Tsuchiya K, Tsuruya K, Kamura K, Nishio S, Suwabe T, Ubara Y, Ishimura E, Nakanishi K, Furukawa K, Kimura K, Matsuo S.

Thrombocytosis in a newborn with Down syndrome and transient abnormal myelopoiesis.
Br J Haematol,172(3):314 2016(Feb.)
Author:Fujihara I, Yanagisawa R, Fukushima Y, Komori K, Ogiso Y, Sakashita K.

Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A,170A(2):322-328 2016(Feb.)
Author:Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.

p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
EUROPEAN JOURNAL OF NEUROLOGY,21(1):49-56 2014(Jan.)
Author:Nakamura, K; Sekijima, Y; Nakamura, K; Hattori, K; Nagamatsu, K; Shimizu, Y; Yazaki, M; Sakurai, A; Endo, F; Fukushima, Y; Ikeda, SI

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation
Mol Cytogenet,7:55 2014
Author:Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature
Am J Med Genet A,164A:1272-1276 2014
Author:Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome
Am J Med Genet A,164A:597-609 2014
Author:Shimizu K, Wakui K, Kosho T, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Tsutomu OI, Kawame H, Narumi Y, Ohashi H, Fukushima Y

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
JOURNAL OF HUMAN GENETICS,58(8):560-563 2013(Aug.)
Author:Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y

上伊那地域における「子どもの健康と環境に関する全国調査」
信州公衆衛生雑誌,6(2):101-106 2012(Mar.)
Author:堺温哉, 津田洋子, 塚原照臣, 日高義彦, 稲葉雄二, 金井誠, 福嶋義光, 野見山哲生

Successful Pregnancy and Lactation Outcome in a Patient With Gaucher Disease Receiving Enzyme Replacement Therapy, and the Subsequent Distribution and Excretion of Imiglucerase in Human Breast Milk
CLINICAL THERAPEUTICS,32(12):2048-2052 2010(Nov.)
Author:Sekijima, Yoshiki; Ohashi, Toya; Ohira, Satoshi; Kosho, Tomoki; Fukushima, Yoshimitsu

Cerebral hemorrhage in Fabry's disease
JOURNAL OF HUMAN GENETICS,55(4):259-261 2010(Apr.)
Author:Nakamura, Katsuya; Sekijima, Yoshiki; Nakamura, Kimitoshi; Hattori, Kiyoko; Nagamatsu, Kiyoshiro; Shimizu, Yusaku; Yasude, Takuji; Ushiyama, Masao; Endo, Fumio; Fukushima, Yoshimitsu; Ikeda, Shu-ichi

Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
ENDOCRINE JOURNAL,56(7):887-895 2009(Oct.)
Author:Sakurai, Akihiro; Murakami, Akiko; Sano, Kenji; Uchino, Shinya; Fukushima, Yoshimitsu

Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus
RETROVIROLOGY,6:79 2009(Sep.)
Author:Yamada, Koichiro; Tsukahara, Tomonori; Yoshino, Kazuhisa; Kojima, Katsuhiko; Agawa, Hideyuki; Yamashita, Yuki; Amano, Yuji; Hatta, Mariko; Matsuzaki, Yasunori; Kurotori, Naoki; Wakui, Keiko; Fukushima, Yoshimitsu; Osada, Ryosuke; Shiozawa, Tanri; Sakashita, Kazuo; Koike, Kenichi; Kumaki, Satoru; Tanaka, Nobuyuki; Takeshita, Toshikazu

The International HapMap Project.
Nature,426:789-796 2003(Dec.)
Author:The International HapMap Consortium.

Haploinsufficiency of NSD1 causes Sotos syndrome.
Nat Genet,30(4):365-366 2002(Apr.)
Author:Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T,Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N.

Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression.
J Hum Genet,47(10):511-516 2002
Author:Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y.

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Nat Genet,26(1):19-20 2000(Sep.)
Author:Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K.

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identificationof chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.
J Hum Genet,44(2):85-90 1999
Author:Wakui K, Tanemura M, Suzumori K, Hidaka E, Ishikawa M, Kubota T,Fukushima Y.

Shinshu University Researcher Directory

FUKUSHIMA YOSHIMITSU

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FUKUSHIMA　YOSHIMITSU