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涌井敬子  ワクイ ケイコ

教員組織学術研究院(医学系)電話番号0263-37-2618
教育組織医学部 医学科 遺伝医学FAX番号0263-37-2619
職名講師メールアドレス
住所〒3908621 長野県松本市旭3-1-1,信州大学医学部遺伝医学教室ホームページURLhttp://www.shinshu-u.ac.jp/faculty/medicine/chair/PM/

更新日:2020/05/29

プロフィール

研究分野
分子細胞遺伝学
遺伝医学
細胞遺伝学
臨床細胞遺伝学
キーワード:染色体異常 , 染色体構造異常 , 染色体再構成 , ゲノムバリアント , 染色体分裂像FISH解析 , 染色体再構成のシークエンス解析 , ゲノミックメカニズム , 遺伝子発現 , 非ゲノミックメカニズム , 核内配置
現在の研究課題
ゲノム構造異常と遺伝子発現
キーワード:ゲノムバリアント , ゲノム構造異常 , 遺伝子発現
ヒト染色体異常の分子細胞遺伝学解析研究
キーワード:染色体構造異常 , 染色体分裂像FISH解析
ヒトゲノムの核内配置と遺伝子発現
キーワード:核内配置 , 遺伝子発現 , エピジェネティックメカニズム
所属学会
所属学会
日本人類遺伝学会
日本遺伝カウンセリング学会
日本遺伝子診療学会
日本小児遺伝学会

所属学会役職担当
2009- , 日本遺伝カウンセリング学会 , 評議員
1999- , 日本人類遺伝学会 , 評議員
日本人類遺伝学会 , 遺伝学的検査委員会 委員
日本人類遺伝学会 , 臨床細胞遺伝学認定士制度委員会 委員
日本人類遺伝学会 , 臨床細胞遺伝学セミナー実行委員会 委員
学歴
出身大学院
2000 , 信州大学大学院 , 医学研究科 , 医学

取得学位
博士(医学) , 信州大学大学院 医学研究科

免許・資格等
1995 , 日本人類遺伝学会 臨床細胞遺伝学認定士・指導士
19830430 , 臨床検査技師
研究職歴等
研究職歴
2013- , 信州大学医学部 講師(遺伝医学教室)
2000- , 信州大学医学部 助手(衛生学講座 *現遺伝医学教室)

研究職歴以外の職歴
1983-1996 , 埼玉県立小児医療センター 臨床検査部 臨床検査技師

留学歴
2001-2002 , ベイラー医科大学 分子人類遺伝部(米国)

研究活動業績

研究業績(著書・
発表論文等)
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;


Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,103(6):2083-2088 2018(Jun.)
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; Fukami, Maki; Kagami, Masayo;


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.


出生前遺伝カウンセリングに関する提言
日本遺伝カウンセリング学会誌,37(2):58-61 2016(Jun.)
Author:斎藤加代子, 平原史樹, 金井誠, 浦野真理, 川目裕, 黒澤健司, 左合治彦, 鈴木由美, 堤正好, 三宅秀彦, 武藤香織, 山田崇弘, 吉田邦広, 四元淳子, 涌井敬子, 佐々木愛子, 中込さと子, 日本遺伝カウンセリング学会, 出生前遺伝カウンセリング検討委員会


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.


子宮内胎児死亡の原因検索に頬粘膜細胞による間期核FISH法が有用であった1症例
臨床病理,60(1):32-36 2012(Jan. 25)
Author:竹澤 由夏; 古庄 知己; 松田 和之; 平 千明; 伊藤 友里花; 日高 惠以子; 菅野 光俊; 鳴海 洋子; 水内 麻子; 小原 久典; 涌井 敬子; 奥村 伸生; 福嶋 義光; 本田 孝行;
Keywords:螢光 in situ ハイブリダイゼーション; 頬粘膜細胞; 子宮内胎児死亡; トリプロイディー症候群;


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


遺伝子診療を理解するための遺伝医学の基礎 臨床細胞遺伝学 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)
日本臨床,68:13-19 2010(Aug.)
Author:涌井 敬子;
Keywords:細胞遺伝学; 染色体異常; viable; 出生に至る; 染色体不分離; 均衡型相互転座;


研究から診療に向けた社会的基盤整備 遺伝学的検査に関する資格と人材育成 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)
日本臨床,68:299-304 2010(Aug.)
Author:涌井 敬子;
Keywords:遺伝学的検査; genetic testing; laboratory geneticist; 生殖細胞系列変異; germline mutation;


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


医学部新入生は「遺伝」をどうとらえているか : 遺伝医学教育充実の必要性
医学教育 = Medical education,39(2):97-101 2008(Apr. 25)
Author:櫻井 晃洋; 古庄 知己; 和田 敬仁; 涌井 敬子; 福嶋 義光;
Keywords:遺伝医学; モデル・コア・カリキュラム; リテラシー; 高校指導要領;


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


【遺伝子診療学 遺伝子診断の進歩と遺伝子治療の展望】遺伝子診断(genetic diagnosis)(遺伝学的検査genetic testing,遺伝子検査gene-based testing,核酸検査nucleic acid-based testing) 検査法,解析技術 細胞遺伝学的解析法(染色体検査法,FISH法)
日本臨床,63:162-166 2005
Author:涌井敬子


【そこが知りたい小児臨床検査のポイント】染色体・遺伝子検査 生殖細胞系列の染色体検査結果の解釈と遺伝カウンセリングの必要性
小児内科,37:640-644 2005
Author:涌井敬子,福嶋義光


医学教育における遺伝カウンセリング・ロールプレイ実習
家族性腫瘍,5:51-56 2005
Author:櫻井晃洋,古庄知己,和田敬仁,涌井敬子,川目 裕,玉井眞理子,福嶋義光


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


染色体検査 (増刊号 小児外来の検査の要領と診断への活かし方) -- (生検-遺伝子検査)
小児科臨床,56:1472-1480 2003
Author:和田 敬仁; 涌井 敬子; 福嶋 義光;
Keywords:FISH法; 遺伝子カウンセリング; 臨床遺伝専門医;


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


【小児外来の検査の要領と診断への活かし方】生検 遺伝子検査 染色体検査
小児科臨床,56:1472-1480 2003
Author:和田敬仁,涌井敬子,福嶋義光


グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例
奈良医学雑誌,54:305-311 2003
Author:村上智彦,上辻秀和,中野智巳,金 一,西久保敏也,木里頼子,石川直子,桑原 勲,坂上哲也,涌井敬子,福嶋義光


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


習慣性流産とX染色体モノソミー低頻度モザイク -頬粘膜細胞と末梢血リンパ球細胞を用いた間期核FISH法による解析-
臨床病理,48(10):955-959 2000(Oct. 25)
Author:石川 雅世; 日高 惠以子; 涌井 敬子; 中山 邦章; 高木 靖; 福嶋 義光; 勝山 努;
Keywords:習慣流産; X染色体モノソミーモザイク; FISH法;


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


副腎白質ジストロフィーの病態解析-ヒト極長鎖脂肪酸活性化酵素のcDNAクローニングとその染色体座位
日本先天代謝異常学会雑誌,13(3):- 1997(Oct. 15)
Author:内山 温; 青山 俊文; 上条 桂樹; 涌井 敬子; 福島 義光; 張 忠義; 下澤 伸行; 鈴木 康之; 近藤 直実; 折居 忠夫; 橋本 隆;


ヒトスクアレン・エポキシダーゼ遺伝子の染色体マッピングとプロモーター解析
脂質生化学研究,39:303-306 1997(Jun. 13)
Author:永井 雅昭; 榊原 順; 小野 輝夫; 涌井 敬子; 福嶋 義光; 五十嵐 修一; 辻 省次; 荒川 正昭;


FISH法により診断される染色体異常症
小児科,38:37-46 1997
Author:涌井敬子;


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


先天異常の染色体分析第3報
埼小医セ誌,8:48-54 1991
Author:涌井敬子;


学会発表
遺伝性結合組織疾患の臨床・ゲノム情報統合データベースの構築およびパネル解析の有用性
日本遺伝カウンセリング学会誌 , 39(2):66 2018(May)
Author:荒川 航太, 河村 理恵, 山口 智美, 石川 真澄, 小島 朋美, 黄瀬 恵美子, 高野 亨子, 吉長 恒明, 涌井 敬子, 福嶋 義光, 古庄 知己


NGSDプロジェクト・インテンシブコース(信州大学) 「細胞遺伝学的検査実習集中コース」の取り組み
日本遺伝カウンセリング学会誌 , 39(2):77 2018(May)
Author:涌井 敬子, 河村 理恵, 高野 亨子, 吉長 恒明, 古庄 知己, 福嶋 義光


Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants in KMT5B.
2018
Author:Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho


Marfan症候群および類縁疾患における遺伝学的検査受検に際した保護者から未成年者への説明のプロセス
日本遺伝カウンセリング学会誌 , 38(2):66 2017(May)
Author:井ノ口 卓彦, 古庄 知己, 高野 亨子, 涌井 敬子, 河村 理恵, 石川 真澄, 黄瀬 恵美子, 福嶋 義光


信州大学医学部附属病院における血管型エーラスダンロス症候群の診療実態調査
日本遺伝カウンセリング学会誌 , 38(2):97 2017(May)
Author:塚谷 延枝, 古庄 知己, 石川 真澄, 黄瀬 恵美子, 高野 亨子, 中村 勝哉, 山下 浩美, 玉井 真理子, 涌井 敬子, 河村 理恵, 福嶋 義光


不育症、不妊症をめぐる遺伝カウンセリングの有用性 信州大学附属病院におけるインタビュー調査から
日本遺伝カウンセリング学会誌 , 38(2):139 2017(May)
Author:小島 朋美, 古庄 知己, 高野 亨子, 涌井 敬子, 河村 理恵, 石川 真澄, 黄瀬 恵美子, 福嶋 義光


信州大学医学部附属病院遺伝子医療研究センター知的障害(ID)外来の取り組み
脳と発達 , 49(Suppl.):S391 2017(May)
Author:高野 亨子, 本林 光雄, 稲葉 雄二, 福山 哲広, 平林 伸一, 西 恵理子, 笛木 昇, 山口 智美, 涌井 敬子, 要 匡, 秦 健一郎, 古庄 知己, 福嶋 義光


重度発達遅滞を呈したジストロフィン遺伝子の一部を含む3.36MbのXp21.1微細欠失の1男児例
脳と発達 , 48(Suppl.):S329 2016(May)
Author:柴直子, 西岡誠, 山内翔子, 川崎洋一郎, 本林光雄, 高野亨子, 古庄知己, 涌井敬子, 福嶋義光, 中村昭則, 稲葉雄二


SHANK3遺伝子変異を認めた1女児例
脳と発達 , 48(Suppl.):S410 2016(May)
Author:高野亨子, 古庄知己, 涌井敬子, 福嶋義光


多嚢胞性異形成腎を合併した17q12微細欠失症候群の一例
日本小児腎臓病学会雑誌 , 28(1Suppl.):122 2015(Jun.)
Author:村瀬翼, 日高義彦, 塩入崇弘, 五味優子, 野田俊輔, 柴直子, 小池健一, 古庄知己, 涌井敬子, 福島義光


信州大学医学部附属病院遺伝子診療部における小児患者の遺伝学的検査実施状況と支援のあり方
日本遺伝カウンセリング学会誌 , 36(2):72 2015(May)
Author:奥島菜々子, 高野亨子, 涌井敬子, 古庄知己, 河村理恵, 石川真澄, 黄瀬恵美子, 福嶋義光


NGSDプロジェクト ゲノム時代の臨床遺伝専門医の育成
日本遺伝カウンセリング学会誌 , 36(2):87 2015(May)
Author:福嶋義光, 古庄知己, 中村勝哉, 関島良樹, 涌井敬子, 高野亨子, 河村理恵, 中村昭則, 櫻井晃洋, 野村文夫, 斎藤加代子, 小杉眞司, 難波栄二


血管型エーラス・ダンロス症候群におけるat risk者の早期遺伝学的診断、早期介入の試み
日本遺伝カウンセリング学会誌 , 36(2):89 2015(May)
Author:塚谷延枝, 古庄知己, 石川真澄, 黄瀬恵美子, 高野亨子, 中村勝哉, 山下浩美, 玉井真理子, 涌井敬子, 河村理恵, 福嶋義光


MISC
臨床細胞遺伝学
遺伝子医学MOOK別冊,:25-41 2014
Author:涌井敬子

共同研究等希望テーマ
エピジェネティックメカニズムによる遺伝子発現
ヒト染色体構造異常のメカニズム
ゲノムバリアントと遺伝子発現
研究費
科学研究費補助金(研究代表者)
2015 - 2017 , RNA-FISH法による1細胞発現解析とエピジェネティックメカニズムに関する研究 , 基盤研究(C)
2012 - 2013 , 相同染色体上の遺伝子領域間三次元核内配置と遺伝子発現に関する研究 , 挑戦的萌芽研究
2008 - 2010 , 構成的染色体異常部位近傍の候補遺伝子の核内3次元配置の変化と位置効果に関する研究 , 基盤研究(C)
2006 - 2007 , 均衡型染色体構造異常の転座切断点近傍の候補遺伝子の核内配置と位置効果に関する研究 , 基盤研究(C)

科学研究費補助金(研究分担者)
マイクロアレイ染色体検査でみつかる染色体微細構造異常症候群の診療ガイドラインの確立 , 厚生労働科学研究費補助金 難治性疾患克服研究事業
マイクロアレイおよび次世代シーケンスを用いた知的障害関連遺伝子の探索 , 文部科学省基盤研究(C)
精神・神経疾患バイオリソース・レポジトリーの構築及び病因病態の解明に関する研究
マイクロアレイ染色体検査でみつかる染色体微細構造異常症候群の診療ガイドラインの確立 , 厚生労働科学研究費補助金 難治性疾患克服研究事業
神経発達症の遺伝学的背景の探索 , 文部科学省基盤研究(C)
ゲノム医療従事者のためのハンズオン式cytogenetic実習プログラム開発 , 文部科学省基盤研究(C)
染色体微細欠失重複症候群の包括的診療体制の構築 , 厚生労働科学研究費補助金( 難治等 一般 )
パーソナルゲノム時代の生命・医療倫理の深化と社会との接点 , 基盤研究(C)(一般)
ポジショナルクローニングのための染色体均衡型構造異常データベースとFISH解析 , 基盤研究(B)(一般)
- 2011 , ゲノムコピー数異常を伴う先天奇形症候群(ウォルフヒルシュホーン症候群を含む)の診断法の確立と患者数の把握に関する研究 , 厚生労働科学研究費補助金 難治性疾患克服研究事業

社会活動実績

社会活動等
学会・研究会の主催
染色体研究会 , 幹事

その他社会活動
非血縁者間骨髄/末梢道細胞採取・移植に係る遺伝学的情報開示に関する審査会議 , 委員

管理運営実績

管理運営実績
学部内委員会等
2019 - , 学生委員会 , 委員
2016 - 2017 , 病院長予備候補者選考意向投票管理委員会 , 委員・投票所管理者
2013 - 2014 , 総合研究委員会 , 准講会 委員