論文 PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review AMERICAN JOURNAL OF MEDICAL GENETICS PART A,179(6):948-957 2019(Jun.) Author:Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin-ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki;
Frequency and clinical features of hearing loss caused by STRC deletions SCIENTIFIC REPORTS,9:4408 2019 Author:Yokota, Yoh; Moteki, Hideaki; Nishio, Shin-ya; Yamaguchi, Tomomi; Wakui, Keiko; Kobayashi, Yumiko; Ohyama, Kenji; Miyazaki, Hiromitsu; Matsuoka, Rina; Abe, Satoko; Kumakawa, Kozo; Takahashi, Masahiro; Sakaguchi, Hirofumi; Uehara, Natsumi; Ishino, Takashi; Kosho, Tomoki; Fukushima, Yoshimitsu; Usami, Shin-ichi;
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter. Hum Genome Var,5:6 2018(May 21) Author:Morokawa H, Kamiya M, Wakui K, Kobayashi M, Kurata T, Matsuda K, Kawamura R, Kanno H, Fukushima Y, Nakazawa Y, Kosho T.
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients HORMONE RESEARCH IN PAEDIATRICS,90:432-432 2018 Author:Kawashima, Sayaka; Nakamura, Akie; Inoue, Takanobu; Matsubara, Keiko; Horikawa, Reiko; Wakui, Keiko; Takano, Kyoko; Fukushima, Yoshimitsu; Tatematsu, Toshi; Mizuno, Seiji; Tsubaki, Junko; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Nagasaki, Keisuke; Fukami, Maki; Kagami, Masayo;
CTCF deletion syndrome: clinical features and epigenetic delineation. J Med Genet,54(12):836-842 2017(Dec.) Author:Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S.
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8. Hum Genome Var,4:17052 2017(Oct. 26) Author:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.
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.
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.
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). Am J Med Genet A,167A(3):592-601 2015(Mar.) Author:Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) 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.
Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction. J Hum Genet.,59:591-592 2014 Author:Wakui K
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
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A.,161A:1221-1237 2013 Author:Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N.
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Clin Genet. ,83:135-144 2013 Author:Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization. Chromosome Res.,20:659-672 2012 Author:Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. Am J Med Genet A,158A:861-8 2012 Author:Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K
Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder. Autism Res Treat.,2012:724072 2012 Author:Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome. Am J Med Genet A,158A:412-6 2012 Author:Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet,44:376-378 2012 Author:Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD Syndrome and a novel PTPN11 mutation Gln510His. Am J Med Genet A,155A:2529-2533 2011 Author:Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. Hum Genet,56:156-60 2011 Author:Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H,Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N
A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered L-serine level associated with disruption of PSAT1 gene expression. Neurosci Res,69:154-60 2011 Author:Ozeki Y, Pickard BS, Kano SI, Malloy MP, Zeledon M, Sun DQ, Fujii K, Wakui K, Shirayama Y, Fukushima Y, Kunugi H, Hashimoto K, Muir WJ, Blackwood DH, Sawa A
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. Am J Med Genet A,152A:764-769 2010 Author:Yamazaki M, Kosho T (equal contribution, corresponding author), Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat,31:966-974 2010 Author:Miyake N, Kosho T (equal contribution), Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N
A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations. Am J Med Genet A,152A:1333-1346 2010 Author:Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. Am J Med Genet A,152A:417-421 2010 Author:Muramatsu Y, Kosho T (corresponding author), Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y
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
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment CLINICAL DYSMORPHOLOGY,17(1):31-34 2008(Jan.) Author:Kosho, Tomoki; Sakazume, Satoru; Kawame, Hiroshi; Wakui, Keiko; Wada, Takahito; Okoshi, Yumi; Mikawa, Makoto; Hasegawa, Tomonobu; Matsuura, Nobuo; Niikawa, Norio; Matsumoto, Naomichi; Fukushima, Yoshimitsu;
Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36 AMERICAN JOURNAL OF MEDICAL GENETICS PART A,146A(22):2891-2897 2008 Author:Saito, Shoji; Kawamura, Rie; Kosho, Tomoki; Shimizu, Takashi; Aoyama, Koki; Koike, Kenichi; Wada, Takahito; Matsumoto, Naotnichi; Kato, Mitsuhiro; Wakui, Keiko; Fukushima, Yoshimitsu;
Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan JOURNAL OF HUMAN GENETICS,52(8):675-679 2007(Aug.) Author:Yoshida, Kunihiro; Wada, Takahito; Sakurai, Akihiro; Wakui, Keiko; Ikeda, Shu-ichi; Fukushima, Yoshimitsu;
A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12 JOURNAL OF HUMAN GENETICS,52(2):179-190 2007(Feb.) Author:Onouchi, Yoshihiro; Tamari, Mayumi; Takahashi, Atsushi; Tsunoda, Tatsuhiko; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira;
A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia CANCER GENETICS AND CYTOGENETICS,176(2):137-143 2007 Author:Hidaka, Eiko; Tanaka, Miyuki; Matsuda, Kazuyuki; Ishikawa-Matsumura, Masayo; Yamauchi, Kazuyoshi; Sano, Kenji; Honda, Takayuki; Wakui, Keiko; Yanagisawa, Ryu; Nakazawa, Yozo; Sakashita, Kazuo; Shiohara, Masaaki; Ishii, Eizaburo; Koike, Kenichi;
Mandibuloacral dysplasia and a novel LMNA mutationin in a woman with severe progressive skeletal changes AMERICAN JOURNAL OF MEDICAL GENETICS PART A,143A(21):2598-2603 2007 Author:Kosho, Tomoki; Takahashi, Jun; Momose, Takashige; Nakamura, Akinori; Sakurai, Akihiro; Wada, Takahito; Yoshida, Kunihiro; Wakui, Keiko; Suzuki, Takefumi; Kasuga, Kazuo; Nishimura, Gen; Kato, Hiroyuki; Fukushima, Yoshimitsu;
Molecular characterizationof a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities JOURNAL OF HUMAN GENETICS,51(4):335-340 2006 Author:Haider, S; Matsumoto, R; Kurosaiva, N; Wakui, K; Fukushima, Y; Isobe, M
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation Mol Genet Metab,86:257-268 2005 Author:Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS Am J Hum Genet,77:161-168 2005 Author:Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats Hum Mol Genet,14(4):535-542 2005 Author:Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome Am J Med Genet A,133:180-183 2005 Author:Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome Eur J Hum Genet,138:528-540 2005 Author:Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1) t(1;1) (p36; q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements Hum Genet,114:198-206 2004 Author:Ballif BC, Wakui K, Gajecka M, Shaffer LG
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus J Hum Genet,49(7):360-365 2004 Author:Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N
CD40 ligand gene and Kawasaki disease EUROPEAN JOURNAL OF HUMAN GENETICS,12(12):1062-1068 2004 Author:Onouchi Y, Onoue S, Tamari M, Wakui K, Fukushima Y, Yashiro M, Nakamura Y, Yanagawa H, Kishi F, Ouchi K, Terai M, Hamamoto K, Kudo F, Aotsuka H, Sato Y, Nariai A, Kaburagi Y, Miura M, Saji T, Kawasaki T, Nakamura Y, Hata A
A genome wide search for KawasakiDisease susceptibility genes AMERICAN JOURNAL OF HUMAN GENETICS,73(5):492-492 2003 Author:Onouchi, Y; Onoue, S; Tamari, M; Wakui, K; Fukushima, Y; Yashiro, M; Nakamura, Y; Yanagawa, H; Kawasaki, T; Nakamura, Y; Hata, A
Genome architecture catalyzes nonrecurrent chromosomal rearrangements Am J Hum Genet,72:1101-1116 2003 Author:Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes Hum Mol Genet,12:1823-1837 2003 Author:Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE
‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22) (q14; q11.2) translocation Clin Genet,63:79-81 2003 Author:Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T
Three novel DNMT3B mutations in Japanese patients with ICF syndrome Am J Med Genet,112(1):31-37 2002 Author:Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, SuetakeI, Tajima T, Wakui K,Miki Y, Hayashi M, Fukushima Y, Sasaki H
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
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females Cytogenet Genome Res,99(1-4):276-284 2002 Author:Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, OkamotoN, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses AMERICAN JOURNAL OF MEDICAL GENETICS,99(1):59-62 2001 Author:Seki, H; Kubota, T; Ikegawa, S; Haga, N; Fujioka, F; Ohzeki, S; Wakui, K; Yoshikawa, H; Takaoka, K; Fukushima, Y
Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period - A case report SPINE,26(7):835-837 2001 Author:Saito, N; Ebara, S; Fukushima, Y; Wakui, K; Takaoka, K
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1 JOURNAL OF BIOLOGICAL CHEMISTRY,276(15):11469-11472 2001 Author:Saito, T; Kinoshita, A; Yoshiura, K; Makita, Y; Wakui, K; Honke, K; Niikawa, N; Taniguchi, N
A familial 14Mb interstitial deletion of 21q11-q21.3 confirmed by FISH using sub-regional-specific DNA clones. AMERICAN JOURNAL OF HUMAN GENETICS,69(4):331-331 2001 Author:Wakui, K; Toyoda, A; Hattori, M; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Sakaki, Y; Fukushima, Y
Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1 AMERICAN JOURNAL OF MEDICAL GENETICS,104(3):250-256 2001 Author:Miyoshi, O; Yabe, R; Wakui,K; Fukushima, Y; Koizumi, S; Uchikawa, M; Kajii, T; Numakura, C; Takahashi, S; Hayasaka, K; Niikawa, N
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease PRENATAL DIAGNOSIS,21(13):1133-1136 2001 Author:Inoue, K; Kanai, M; Tanabe, Y; Kubota, T;Kashork, CD; Wakui, K; Fukushima, Y; Lupski, JR; Shaffer, LG
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3 AMERICAN JOURNAL OF HUMAN GENETICS,66(1):143-147 2000 Author:Ghadami, M; Makita, Y; Yoshida, K; Nishimura, G; Fukushima, Y; Wakui, K; Ikegawa, S; Yamada, K; Kondo, S; Niikawa, N; Tomita, H
Structural analysis of a rare rearranged Y chromosome and itsbearing on genotype-phenotype correlation AMERICAN JOURNAL OF MEDICAL GENETICS,92(4):256-259 2000 Author:Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y
A locus for an autosomal dominant posterior polar cataract on chromosome 20. INVESTIGATIVE OPHTHALMOLOGY&VISUAL SCIENCE,41(4):S2-S2 2000 Author:Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N
An autosomal dominant posterior polar cataract locus maps to human chromosome 20pl 12-q12 EUROPEAN JOURNAL OF HUMAN GENETICS,8(7):535-539 2000 Author:Yamada, K; Tomita, H; Yoshiura, K; Kondo, S; Wakui, K; Fukushima, Y; Ikegawa, S; Nakamura, Y; Amemiya, T; Niikawa, N
Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(9):3094-3100 2000 Author:Muroya, K; Okuyama, T; Goishi, K; Ogiso, Y; Fukuda, S; Kameyama, J; Sato, H; Suzuki, Y; Terasaki, H; Gomyo, H; Wakui, K; Fukushima, Y; Ogata, T
Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease? AMERICAN JOURNAL OF MEDICAL GENETICS,94(4):265-270 2000 Author:Ishikawa, S; Ishikawa, M; Tokuda, T; Yoshida, K; Wakui, K; Matsuura, S; Ohara, S; Sekijima, Y; Hidaka, E; Fukushima, Y; Shigeta, H; Komatsu, K; Ikeda, S
Severity of developmental delay is associated with the proportion of cells with functional X disomy in female patients with mosaic for small ring X chromosomes. AMERICAN JOURNAL OF HUMAN GENETICS,67(4):157-157 2000 Author:Kubota, T; Wakui, K; Watanabe, Y; Yoshino, M; Okamoto, N; Kida, T; Ohashi, H; Fukushima, Y
Jumping translocations of 9q onto 14p, 13q and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome. AMERICAN JOURNAL OF HUMAN GENETICS,67(4):152-152 2000 Author:Wakui, K; Hidaka, E; Ishikawa, M; Ichikawa, M; Katsuyama, T; Fukushima, Y
Genetic evidence for a novel gene(s) involved in urogenital development on 10q26 KIDNEY INTERNATIONAL,58(6):2281-2290 2000 Author:Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T
Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(8):2927-2930 2000 Author:Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR HUMAN GENETICS,104(1):49-55 1999 Author:Kubota, T;Nonoyama, S; Tonoki, H; Masuno, M; Imaizumi, K; Kojima, M; Wakui, K; Shimadzu, M; Fukushima, Y
Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies JOURNAL OF HUMAN GENETICS,44(2):85-90 1999 Author:Wakui, K; Tanemura, M; Suzumori, K; Hidaka, E; Ishikawa, M; Kubota, T; Fukushima, Y
A gene responsible for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-g12.1. AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A449-A449 1999 Author:Tomita, H; Yamada, K; Niikawa, N; Nakane, Y; Nagamitsu, S; Matsuishi, T; Wakui, K; Fukushima, Y; Kato, N
A familial interstitial deletion of 21q. It is possible for a recessive gene responsible for mental retardation to exist within 21q11-21. AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A362-A362 1999 Author:Wakui, K; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Fukushima, Y
Aberrant DNA methylation occurs in multiple genes in esophageal cancer tissues. AMERICAN JOURNAL OF HUMAN GENETICS,65(4):A40-A40 1999 Author:Kbota, T; Seki, H; Wakui, K; Adachi, W; Nasu, T; Fukushima, Y
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1 AMERICAN JOURNAL OF HUMAN GENETICS,65(6):1688-1697 1999 Author:Tomita, H; Nagamitsu, S; Wakui, K; Fukushima, Y; Yamada, K; Sadamatsu, M; Masui, A; Konishi, T; Matsuishi, T; Aihara, M; Shimizu, K; Hashimoto, K; Mineta, M; Matsushima, M; Tsujita, T; Saito, M; Tanaka, H; Tsuji, S; Takagi, T; Nakamura, Y; Nanko, S; Kato, N; Nakane, Y; Niikawa, N
4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls AMERICAN JOURNAL OF MEDICAL GENETICS,78(1):52-54 1998 Author:Imamura, K; Tonoki, H; Wakui, K; Fukushima, Y; Sasaki, S; Yausda, K; Takekoshi, Y; Tochimaru, H
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern HUMAN GENETICS,103(1):51-56 1998 Author:Ogata, T; Wakui, K; Muroya, K; Ohashi, H; Matsuo, N; Brown, DM; Ishii, T; Fukushima, Y
Assignment of human fatty-acid-Coenzyme A ligase, very long-chain 1 gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in situ hybridization CYTOGENETICS AND CELL GENETICS,81(3-4):292-293 1998 Author:Wakui, K; Aoyama, T; Uchiyama, A; Hashimoto, T; Fukushima, Y
Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome CLINICAL GENETICS,54(3):199-202 1998 Author:Kubota, T; Sakurai, A; Arakawa, K; Shimazu, M; Wakui, K; Furihata, K; Fukushima, Y
Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13 AMERICAN JOURNALOF MEDICAL GENETICS,68(1):70-73 1997 Author:Kim, KC; Wakui, K; Yamagishi, A; Ohno, T; Sato, M; Imaizumi, S; Aihara, T; Fukushima,Y; Ohashi, H
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency HUMAN MOLECULAR GENETICS,6(8):1215-1224 1997 Author:Orii, KE; Aoyama, T; Wakui, K; Fukushima, Y; Miyajima, H; Yamaguchi, S; Orii, T; Kondo, N; Hashimoto, T
Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1 GENOMICS,44(1):141-143 1997 Author:Nagai, M; Sakakibara, J; Wakui, K; Fukushima, Y; Igarashi, S; Tsuji, S; Arakawa, M; Ono, T
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13) AMERICAN JOURNAL OF MEDICAL GENETICS,73(4):416-418 1997 Author:Hasegawa,T; Hasegawa, Y; Aso, T; Koto, S; Nagai, T; Tsuchiya, Y; Kim, KC; Ohashi, H; Wakui, K; Fukushima, Y
Advanced diagnosis of chromosome aberrations by FISH analysis with telomeric probes. AMERICAN JOURNAL OF HUMAN GENETICS,61(4):A142-A142 1997 Author:Wakui, K; Kubota, T; Suzumori, K; Ogata, T; Ledbetter, DH; Fukushima, Y
Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution CYTOGENETICS AND CELL GENETICS,79(3-4):221-224 1997 Author:Aoyama, T; Wakui, K; Orii, KE; Hashimoto, T; Fukushima, Y
Interstitial duplication 8q22-q24: Report of a case proven by FISH with mapped cosmid probes AMERICAN JOURNAL OF MEDICAL GENETICS,65(1):36-39 1996 Author:Wakui, K; Ohashi, H; Yamagishi, A; Hamano, S; Nara, T; Ishikiriyama, S; Nakamura, Y; Fukushima, Y
Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization GENOMICS,37(1):144-145 1996 Author:Aoyama, T; Wakui, K; Fukushima, Y; Orii, KO; Hashimoto, T
TETRAMELIC MIRROR-IMAGE LIKE POLYDACTYLY AND DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(2-14)(P23.2-Q13)] AMERICAN JOURNAL OF HUMAN GENETICS,57(4):543-543 1995 Author:OHASHI, H; KIN, Y; IWASAKI, M; OHNO, T; SATO, M; IMAIZUMI, S; AIHARA, T; YAMAGISHI, A; WAKUI, K; FUKUSHIMA, Y
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