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
「我が国の遺伝医療の動向」第1回-専門家集団の取り組み BIO Clinica,29:1334-1338 2014 Author:福嶋義光
遺伝子診断（検査） 医学のあゆみ,249:390-390 2014 Author:福嶋義光
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
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
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.
研究者総覧
