FUKUSHIMA YOSHIMITSU｜Shinshu University Researcher List

School of Medicine　Department of Medical Genetics　

Professors　

Researcher Information

Research activity information

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
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
信州医学雑誌, 67(3), 209-215, Jun. 2019

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

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
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.
Ann Otol Rhinol Laryngol, 125(11), 918-923, Nov. 2016

Evidence-based clinical practice guidelines for polycystic kidney disease 2014.
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.
Clin Exp Nephrol, 20(4), 493-509, Aug. 2016

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.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
Am J Med Genet A, 170A(2), 322-328, Feb. 2016

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

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

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome
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
Am J Med Genet A, 164A, 597-609, 2014

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
Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T
Am J Med Genet A, 164A, 1272-1276, 2014

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation
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
Mol Cytogenet, 7, 55, 2014

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

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」
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
信州公衆衛生雑誌, 6(2), 101-106, Mar. 2012

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
Sekijima, Yoshiki; Ohashi, Toya; Ohira, Satoshi; Kosho, Tomoki; Fukushima, Yoshimitsu
CLINICAL THERAPEUTICS, 32(12), 2048-2052, Nov. 2010

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

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

Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus
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
RETROVIROLOGY, 6, 79, Sep. 2009

The International HapMap Project.
The International HapMap Consortium.
Nature, 426, 789-796, Dec. 2003

Haploinsufficiency of NSD1 causes Sotos syndrome.
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.
Nat Genet, 30(4), 365-366, Apr. 2002

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

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
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.
Nat Genet, 26(1), 19-20, Sep. 2000

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.
Wakui K, Tanemura M, Suzumori K, Hidaka E, Ishikawa M, Kubota T,Fukushima Y.
J Hum Genet, 44(2), 85-90, 1999