Wakui Keiko
Academic Assembly School of Medicine and Health Sciences Institute of Medicine
School of Medicine Department of Medical Genetics
Senior Assistant Professor
Researcher Information
Research Keyword
- Nuclear Architecture, Chromosomal rearrangements, mechanism of chromosomal rearrangements, DNA sequencing of chromosomal rearrangements, Metaphase FISH analyses of rearranged chromosomes, Chromosomal Microarray, Genomic mechanisms, Structural chromosomal abnormalities, Genomic variants, Chromosome abnormalities, Non-genomic mechanisms, Gene expression
Field Of Study
TEL
- 81-263-37-2618
Web site
Educational Background
Research activity information
Paper
- Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
Noriko Kubota; Ryojun Takeda; Jun Kobayashi; Eiko Hidaka; Eriko Nishi; Kyoko Takano; Keiko Wakui
Molecular syndromology, 14(5), 394-404, Oct. 2023, Refereed
Last, Corresponding - Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Tomomi Yamaguchi; Shujiro Hayashi; Daisuke Hayashi; Takeshi Matsuyama; Norimichi Koitabashi; Kenichi Ogiwara; Masaaki Noda; Chiai Nakada; Shinya Fujiki; Akira Furutachi; Yasuhiko Tanabe; Michiko Yamanaka; Aki Ishikawa; Miyako Mizukami; Asako Mizuguchi; Kazumitsu Sugiura; Makoto Sumi; Hirokuni Yamazawa; Atsushi Izawa; Yuko Wada; Tomomi Fujikawa; Yuri Takiguchi; Keiko Wakui; Kyoko Takano; Shin-Ya Nishio; Tomoki Kosho
American journal of medical genetics. Part A, 191(1), 37-51, Jan. 2023, Refereed
Lead - Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A, 191(1), 37-51, Jan. 2023, Refereed - Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.
Hitomi Nishizawa; Mitsuo Motobayashi; Miwa Akahane; Keiko Wakui; Noritaka Kitazawa; Yuji Inaba; Yoshimitsu Fukushima; Tomoki Kosho
Brain & development, 44(3), 229-233, Mar. 2022, Refereed
Lead - Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder
Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T.
Brain Dev, 44(3), 229-233, Mar. 2022 - A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
Kaori Hara-Isono; Keiko Matsubara; Riku Hamada; Shun Shimada; Tomomi Yamaguchi; Keiko Wakui; Osamu Miyazaki; Koji Muroya; Kenji Kurosawa; Maki Fukami; Tsutomu Ogata; Tomoki Kosho; Masayo Kagami
Journal of human genetics, 66(11), 1121-1126, Nov. 2021, Refereed
Lead - A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.
J Hum Genet., 66(11), 1121-1126, Nov. 2021 - Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hiroaki Hanafusa; Yoshihiko Hidaka; Tomomi Yamaguchi; Hisashi Shimojo; Takanori Tsukahara; Tsubasa Murase; Daisuke Matsuoka; Nao Chiba; Shun Shimada; Hirokazu Morokawa; Norio Omori; Hironori Minoura; China Nagano; Kyoko Takano; Katsuya Nakamura; Keiko Wakui; Yoshimitsu Fukushima; Takeshi Uehara; Yozo Nakazawa; Kazumoto Iijima; Kandai Nozu; Tomoki Kosho
American journal of medical genetics. Part A, 185(7), 2175-2179, Jul. 2021, Refereed
Lead - Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T.
Am J Med Genet A., 185(7), 2175-2179, Jul. 2021 - Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Yoichiro Oda; Yuri Uchiyama; Ai Motomura; Atsushi Fujita; Yoshiteru Azuma; Yutaka Harita; Takeshi Mizuguchi; Kumiko Yanagi; Hiroko Ogata; Kenichiro Hata; Tadashi Kaname; Yoichi Matsubara; Keiko Wakui; Naomichi Matsumoto
Journal of human genetics, 64(10), 1005-1014, Oct. 2019, Refereed, Not invited
Lead - Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
Kenjiro Sugiyama; Hideaki Moteki; Shin-Ichiro Kitajiri; Tomohiro Kitano; Shin-Ya Nishio; Tomomi Yamaguchi; Keiko Wakui; Satoko Abe; Akiko Ozaki; Remi Motegi; Hirooki Matsui; Masato Teraoka; Yumiko Kobayashi; Tomoki Kosho; Shin-Ichi Usami
Genes, 10(9), 715, Sep. 2019, Refereed
Lead - Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI.
Genes (Basel), 10(9), 715, Sep. 2019, Refereed - PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Tomomi Yamaguchi; Kyoko Takano; Yuji Inaba; Manami Morikawa; Mitsuo Motobayashi; Rie Kawamura; Keiko Wakui; Eriko Nishi; Shin-Ichi Hirabayashi; Yoshimitsu Fukushima; Hiroyuki Kato; Jun Takahashi; Tomoki Kosho
American journal of medical genetics. Part A, 179(6), 948-957, Jun. 2019
Lead - PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review
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;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(6), 948-957, Jun. 2019 - Frequency and clinical features of hearing loss caused by STRC deletions.
Yoh Yokota; Hideaki Moteki; Shin-Ya Nishio; Tomomi Yamaguchi; Keiko Wakui; Yumiko Kobayashi; Kenji Ohyama; Hiromitsu Miyazaki; Rina Matsuoka; Satoko Abe; Kozo Kumakawa; Masahiro Takahashi; Hirofumi Sakaguchi; Natsumi Uehara; Takashi Ishino; Tomoki Kosho; Yoshimitsu Fukushima; Shin-Ichi Usami
Scientific reports, 9(1), 4408-4408, Mar. 2019, Refereed, Not invited
Lead - Frequency and clinical features of hearing loss caused by STRC deletions
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;
SCIENTIFIC REPORTS, 9, 4408, 2019 - Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Sayaka Kawashima; Akie Nakamura; Takanobu Inoue; Keiko Matsubara; Reiko Horikawa; Keiko Wakui; Kyoko Takano; Yoshimitsu Fukushima; Toshi Tatematsu; Seiji Mizuno; Junko Tsubaki; Shigeo Kure; Yoichi Matsubara; Tsutomu Ogata; Maki Fukami; Masayo Kagami
The Journal of clinical endocrinology and metabolism, 103(6), 2083-2088, Jun. 2018, Refereed, Not invited
Lead - Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients
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;
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 103(6), 2083-2088, Jun. 2018 - Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.
Hirokazu Morokawa; Motoko Kamiya; Keiko Wakui; Mikiko Kobayashi; Takashi Kurata; Kazuyuki Matsuda; Rie Kawamura; Hiroyuki Kanno; Yoshimitsu Fukushima; Yozo Nakazawa; Tomoki Kosho
Human genome variation, 5, 6-6, 2018, Refereed, Not invited
Lead - Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
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
HORMONE RESEARCH IN PAEDIATRICS, 90, 432-432, 2018, Refereed, Not invited
Lead - Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
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;
HORMONE RESEARCH IN PAEDIATRICS, 90, 432-432, 2018 - CTCF deletion syndrome: clinical features and epigenetic delineation.
Ikumi Hori; Rie Kawamura; Kazuhiko Nakabayashi; Hidetaka Watanabe; Ken Higashimoto; Junko Tomikawa; Daisuke Ieda; Kei Ohashi; Yutaka Negishi; Ayako Hattori; Yoshitsugu Sugio; Keiko Wakui; Kenichiro Hata; Hidenobu Soejima; Kenji Kurosawa; Shinji Saitoh
Journal of medical genetics, 54(12), 836-842, Dec. 2017, Refereed
Lead - Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Kyoko Takano; Kazuya Goto; Mitsuo Motobayashi; Keiko Wakui; Rie Kawamura; Tomomi Yamaguchi; Yoshimitsu Fukushima; Tomoki Kosho
European journal of medical genetics, 60(10), 521-526, Oct. 2017, Refereed, Not invited
Lead - 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 - A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Tsuneaki Yoshinaga; Katsuya Nakamura; Masumi Ishikawa; Tomomi Yamaguchi; Kyoko Takano; Keiko Wakui; Tomoki Kosho; Kunihiro Yoshida; Yoshimitsu Fukushima; Yoshiki Sekijima
Human genome variation, 4, 17052-17052, 2017, Refereed, Not invited
Lead - Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Hideaki Moteki; Hela Azaiez; Christina M Sloan-Heggen; Kevin Booth; Shin-Ya Nishio; Keiko Wakui; Tomomi Yamaguchi; Diana L Kolbe; Yoh-Ichiro Iwasa; A Eliot Shearer; Yoshimitsu Fukushima; Richard J H Smith; Shin-Ichi Usami
The Annals of otology, rhinology, and laryngology, 125(11), 918-923, Nov. 2016, Refereed, Not invited
Lead - 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 - 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.
Kyoko Takano; Naoko Shiba; Keiko Wakui; Tomomi Yamaguchi; Noriko Aida; Yuji Inaba; Yoshimitsu Fukushima; Tomoki Kosho
American journal of medical genetics. Part A, 170A(2), 322-328, Feb. 2016, Refereed, Not invited
Lead - 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 - 医療における遺伝学的検査・診断に関するガイドライン
福嶋 義光; 鎌谷 直之; 小杉 眞司; 高田 史男; 田中 敏博; 玉井 真理子; 丸山 英二; 武藤 香織; 古川 洋一; 黒木 良和; 斎藤 加代子; 田村 和朗; 平原 史樹; 小崎 健次郎; 沼部 博直; 奥山 虎之; 原田 正平; 宮地 勇人; 中澤 誠; 辻 省次; 澤村 大輔; 宇佐美 真一; 東 範行; 嶋 緑倫; 南條 輝志男; 位田 隆一; 具嶋 弘; 玉起 美恵子; 堤 正好; 増井 徹; 松田 一郎; 森崎 隆幸; 山本 隆一; 米本 昌平; 櫻井 晃洋; 涌井 敬子; 河村 理恵; 澤井 英明; 山内 泰子; 安藤 記子; 渡部 麻衣子; 日本医学会
産婦人科の実際, 64(3), 2-14, Mar. 2015
Lead - 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).
Megumi Yoshimura-Furuhata; Akira Nishimura-Tadaki; Yoshiro Amano; Takashi Ehara; Yuko Hamasaki; Masaki Muramatsu; Seiichiro Shishido; Atsushi Aikawa; Riku Hamada; Kenji Ishikura; Hiroshi Hataya; Yoshihiko Hidaka; Shunsuke Noda; Kenichi Koike; Keiko Wakui; Yoshimitsu Fukushima; Naomichi Matsumoto; Midori Awazu; Noriko Miyake; Tomoki Kosho
American journal of medical genetics. Part A, 167A(3), 592-601, Mar. 2015, Refereed, Not invited
Lead - 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).
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.
Am J Med Genet A, 167A(3), 592-601, Mar. 2015 - 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.
Yoko Narumi; Sachiko Nishina; Motoharu Tokimitsu; Yoko Aoki; Rika Kosaki; Keiko Wakui; Noriyuki Azuma; Toshinori Murata; Fumio Takada; Yoshimitsu Fukushima; Tomoki Kosho
American journal of medical genetics. Part A, 164A(5), 1272-6, May 2014, Refereed, Not invited
Lead - Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Kenji Shimizu; Keiko Wakui; Tomoki Kosho; Nobuhiko Okamoto; Seiji Mizuno; Kazuya Itomi; Shigeto Hattori; Kimio Nishio; Osamu Samura; Yoshiyuki Kobayashi; Yuko Kako; Takashi Arai; Oh-ishi Tsutomu; Hiroshi Kawame; Yoko Narumi; Hirofumi Ohashi; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 164A(3), 597-609, Mar. 2014, Refereed, Not invited
Lead - Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
Divya Mishra; Takema Kato; Hidehito Inagaki; Tomoki Kosho; Keiko Wakui; Yasuhiro Kido; Satoru Sakazume; Mariko Taniguchi-Ikeda; Naoya Morisada; Kazumoto Iijima; Yoshimitsu Fukushima; Beverly S Emanuel; Hiroki Kurahashi
Molecular cytogenetics, 7, 55-55, 2014, Refereed, Not invited
Lead - 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 - Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
Keiko Tanaka; Yoshiki Sekijima; Kunihiro Yoshida; Mariko Tamai; Tomoki Kosho; Akihiro Sakurai; Keiko Wakui; Shu-ichi Ikeda; Yoshimitsu Fukushima
Journal of human genetics, 58(8), 560-3, Aug. 2013, Refereed, Not invited
Lead - Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Tomoki Kosho; Nobuhiko Okamoto; Hirofumi Ohashi; Yoshinori Tsurusaki; Yoko Imai; Yumiko Hibi-Ko; Hiroshi Kawame; Tomomi Homma; Saori Tanabe; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Satoru Sakazume; Takuma Ishii; Toshiro Nagai; Tohru Ohta; Norio Niikawa; Seiji Mizuno; Tadashi Kaname; Kenji Naritomi; Yoko Narumi; Keiko Wakui; Yoshimitsu Fukushima; Satoko Miyatake; Takeshi Mizuguchi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto
American journal of medical genetics. Part A, 161A(6), 1221-37, Jun. 2013, Refereed, Not invited
Lead - Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
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.
Am J Med Genet A., 161A, 1221-1237, 2013 - 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.
Rie Kawamura; Hideyuki Tanabe; Takahito Wada; Shinji Saitoh; Yoshimitsu Fukushima; Keiko Wakui
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 20(6), 659-72, Aug. 2012, Refereed, Not invited
Last, Corresponding - Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Mitsuo Motobayashi; Akira Nishimura-Tadaki; Yuji Inaba; Tomoki Kosho; Satoko Miyatake; Taemi Niimi; Takafumi Nishimura; Keiko Wakui; Yoshimitsu Fukushima; Naomichi Matsumoto; Kenichi Koike
American journal of medical genetics. Part A, 158A(4), 861-8, Apr. 2012, Refereed, Not invited
Lead - Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Yoshinori Tsurusaki; Nobuhiko Okamoto; Hirofumi Ohashi; Tomoki Kosho; Yoko Imai; Yumiko Hibi-Ko; Tadashi Kaname; Kenji Naritomi; Hiroshi Kawame; Hiroshi Kawame; Keiko Wakui; Yoshimitsu Fukushima; Tomomi Homma; Mitsuhiro Kato; Yoko Hiraki; Takanori Yamagata; Shoji Yano; Seiji Mizuno; Satoru Sakazume; Takuma Ishii; Takuma Ishii; Toshiro Nagai; Masaaki Shiina; Kazuhiro Ogata; Tohru Ohta; Norio Niikawa; Satoko Miyatake; Ippei Okada; Takeshi Mizuguchi; Hiroshi Doi; Hirotomo Saitsu; Noriko Miyake; Naomichi Matsumoto
Nature Genetics, 44, 376-378, Apr. 2012, Refereed, Not invited
Lead - Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Yoko Narumi; Masaaki Shiohara; Keiko Wakui; Asahito Hama; Seiji Kojima; Kentaro Yoshikawa; Yoshiro Amano; Tomoki Kosho; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 158A(2), 412-6, Feb. 2012, Refereed, Not invited
Lead - [Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available].
Takezawa Y; Kosho T; Matsuda K; Taira C; Ito Y; Hidaka E; Sugano M; Narumi Y; Mizuuchi A; Kobara H; Wakui K; Okumura N; Fukushima Y; Honda T
Rinsho byori. The Japanese journal of clinical pathology, 60(1), 32-36, Jan. 2012, Refereed, Not invited
Lead - Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Tsurusaki Y; Kosho T; ual; co; corresponding author; Hatasaki K; Narumi Y; Wakui K; Fukushima Y; Doi H; Saitsu H; Miyake N; Matsumoto N
Clin Genet, 83(2), 135-144, 2012, Refereed, Not invited
Lead - Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.
Yanagi K; Kaname T; Wakui K; Hashimoto O; Fukushima Y; Naritomi K
Autism research and treatment, 2012, 724072, 2012, Refereed, Not invited
Lead - Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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
Nat Genet, 44, 376-378, 2012 - Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K
Am J Med Genet A, 158A, 861-8, 2012 - Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients
Kenji Shimizu; Nobuhiko Okamoto; Noriko Miyake; Katsuaki Taira; Yumiko Sato; Keiko Matsuda; Noriko Akimaru; Hirofumi Ohashi; Keiko Wakui; Yoshimitsu Fukushima; Naomichi Matsumoto; Tomoki Kosho
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(8), 1949-1958, Aug. 2011, Refereed, Not invited
Lead - 【遺伝カウンセリングハンドブック】資料編 日本医学会「医療における遺伝学的検査・診断に関するガイドライン」 2011年2月
福嶋 義光; 鎌谷 直之; 小杉 眞司; 高田 史男; 田中 敏博; 玉井 真理子; 丸山 英二; 武藤 香織; 古川 洋一; 黒木 良和; 斎藤 加代子; 田村 和朗; 平原 史樹; 小崎 健次郎; 沼部 博直; 奥山 虎之; 原田 正平; 宮地 勇人; 中澤 誠; 辻 省次; 澤村 大輔; 宇佐美 真一; 東 範行; 嶋 緑倫; 南條 輝志男; 位田 隆一; 具嶋 弘; 玉起 美恵子; 堤 正好; 増井 徹; 松田 一郎; 森崎 隆幸; 山本 隆一; 米本 昌平; 櫻井 晃洋; 涌井 敬子; 河村 理恵; 澤井 英明; 山内 泰子; 安藤 記子; 渡部 麻衣子; 日本医学会
遺伝子医学MOOK, 別冊(遺伝カウンセリングハンドブック), 411-418, Jul. 2011
Lead - 日本医学会「医療における遺伝学的検査・診断に関するガイドライン」
福嶋 義光; 鎌谷 直之; 小杉 眞司; 高田 史男; 田中 敏博; 玉井 真理子; 丸山 英二; 武藤 香織; 古川 洋一; 黒木 良和; 斎藤 加代子; 田村 和朗; 平原 史樹; 小崎 健次郎; 沼部 博直; 奥山 虎之; 原田 正平; 宮地 勇人; 中澤 誠; 辻 省次; 澤村 大輔; 宇佐美 真一; 東 範行; 嶋 緑倫; 南條 輝志男; 位田 隆一; 具嶋 弘; 玉起 美恵子; 堤 正好; 増井 徹; 松田 一郎; 森崎 隆幸; 山本 隆一; 米本 昌平; 櫻井 晃洋; 涌井 敬子; 河村 理恵; 澤井 英明; 山内 泰子; 安藤 記子; 渡部 麻衣子; 日本医学会
日本医師会雑誌, 140(2), 355-361, May 2011
Lead - 日本医学会「医療における遺伝学的検査・診断に関するガイドライン」
福嶋 義光; 鎌谷 直之; 小杉 眞司; 高田 史男; 田中 敏博; 玉井 真理子; 丸山 英二; 武藤 香織; 古川 洋一; 黒木 良和; 斎藤 加代子; 田村 和朗; 平原 史樹; 小崎 健次郎; 沼部 博直; 奥山 虎之; 原田 正平; 宮地 勇人; 中澤 誠; 辻 省次; 澤村 大輔; 宇佐美 真一; 東 範行; 嶋 緑倫; 南條 輝志男; 位田 隆一; 具嶋 弘; 玉起 美恵子; 堤 正好; 増井 徹; 松田 一郎; 森崎 隆幸; 山本 隆一; 米本 昌平; 櫻井 晃洋; 涌井 敬子; 河村 理恵; 澤井 英明; 山内 泰子; 安藤 記子; 渡部 麻衣子; 日本医学会
臨床病理, 59(3), 310-321, Mar. 2011
Lead - 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.
Ozeki Y; Pickard BS; Kano S; Malloy MP; Zeledon M; Sun DQ; Fujii K; Wakui K; Shirayama Y; Fukushima Y; Kunugi H; Hashimoto K; Muir WJ; Blackwood DH; Sawa A
Neuroscience research, 69(2), 154-160, Feb. 2011, Refereed, Not invited
Lead - Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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
Journal of human genetics, 56(2), 156-160, Feb. 2011, Refereed, Not invited
Lead - 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.
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
Neurosci Res, 69, 154-60, 2011 - Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
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
Hum Genet, 56, 156-60, 2011 - Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD Syndrome and a novel PTPN11 mutation Gln510His.
Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T
Am J Med Genet A, 155A, 2529-2533, 2011 - Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.
Yoko Narumi; Tomoki Kosho; Goro Tsuruta; Masaaki Shiohara; Ei Shimazaki; Tetsuo Mori; Ayako Shimizu; Yasuhiko Igawa; Shuji Nishizawa; Kimiyo Takagi; Rie Kawamura; Keiko Wakui; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 152A(12), 3143-7, Dec. 2010, Refereed, Not invited
Lead - Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N; Kosho T; 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
Human mutation, 31(8), 966-974, Aug. 2010, Refereed, Not invited
Lead - Common variants in CASP3 confer susceptibility to Kawasaki disease.
Onouchi Y; Ozaki K; Buns JC; Shimizu C; Hamada H; Honda T; Terai M; Honda A; Takeuchi T; Shibuta S; Suenaga T; Suzuki H; Higashi K; Yasukawa K; Suzuki Y; Sasago K; Kemmotsu Y; Takatsuki S; Saji T; Yoshikawa T; Nagai T; Hamamoto K; Kishi F; Ouchi K; Sato Y; Newburger JW; Baker AL; Shulman ST; Rowley AH; Yashiro M; Nakamura Y; Wakui K; Fukushima Y; Fujino A; Tsunoda T; Kawasaki T; Hata A; Nakamura Y; Tanaka T
Human molecular genetics, 19(14), 2898-2906, Jul. 2010, Refereed, Not invited
Lead - A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
Tomoki Kosho; Noriko Miyake; Atsushi Hatamochi; Jun Takahashi; Hiroyuki Kato; Teruyoshi Miyahara; Yasuhiko Igawa; Hiroshi Yasui; Tadao Ishida; Kurahito Ono; Takashi Kosuda; Akihiko Inoue; Mohei Kohyama; Tadashi Hattori; Hirofumi Ohashi; Gen Nishimura; Rie Kawamura; Keiko Wakui; Yoshimitsu Fukushima; Naomichi Matsumoto
American journal of medical genetics. Part A, 152A(6), 1333-46, Jun. 2010, Refereed, Not invited
Lead - Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Masanori Yamazaki; Tomoki Kosho; Shigeo Kawachi; Maiko Mikoshiba; Jun Takahashi; Rena Sano; Kenji Oka; Kunihiro Yoshida; Tomoharu Watanabe; Hiroyuki Kato; Mitsuhisa Komatsu; Rie Kawamura; Keiko Wakui; Per M Knappskog; Helge Boman; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 152A(3), 764-9, Mar. 2010, Refereed, Not invited
Lead - Progressive Aortic Root and Pulmonary Artery Aneurysms in a Neonate With Loeys-Dietz Syndrome Type 1B
Yukako Muramatsu; Tomoki Kosho; Miyuki Magota; Taro Yokotsuka; Masatoki Ito; Ayako Yasuda; Osamu Kito; Chizuko Suzuki; Yoshie Nagata; Satoru Kawai; Masanobu Ikoma; Tameo Hatano; Masato Nakayama; Rie Kawamura; Keiko Wakui; Hiroko Morisaki; Takayuki Morisaki; Yoshimitsu Fukushima
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(2), 417-421, Feb. 2010, Refereed, Not invited
Lead - Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
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
Hum Mutat, 31, 966-974, 2010 - Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
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
Am J Med Genet A, 152A, 764-769, 2010 - Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
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
Am J Med Genet A, 152A, 417-421, 2010 - A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations.
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
Am J Med Genet A, 152A, 1333-1346, 2010 - Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locus.
Koichiro Yamada; Tomonori Tsukahara; Kazuhisa Yoshino; Katsuhiko Kojima; Hideyuki Agawa; Yuki Yamashita; Yuji Amano; Mariko Hatta; Yasunori Matsuzaki; Naoki Kurotori; Keiko Wakui; Yoshimitsu Fukushima; Ryosuke Osada; Tanri Shiozawa; Kazuo Sakashita; Kenichi Koike; Satoru Kumaki; Nobuyuki Tanaka; Toshikazu Takeshita
Retrovirology, 6, 79-79, Sep. 2009, Refereed, Not invited
Lead - 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 - Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.
Shoji Saito; Rie Kawamura; Tomoki Kosho; Takashi Shimizu; Koki Aoyama; Kenichi Koike; Takahito Wada; Naomichi Matsumoto; Mitsuhiro Kato; Keiko Wakui; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 146A(22), 2891-7, Nov. 2008, Refereed, Not invited
Lead - わが国における臨床遺伝医学教育の現状
櫻井 晃洋; 山内 泰子; 河村 理恵; 古庄 知己; 涌井 敬子; 和田 敬仁; 関島 良樹; 福嶋 義光
医学教育, 39(Suppl.), 125-125, Jul. 2008
Lead - ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms
Onouchi Yoshihiro; Gunji Tomohiko; Burns Jane C; Shimizu Chisato; Newburger Jane W; Yashiro Mayumi; Nakamura Yoshikazu; Yanagawa Hiroshi; Wakui Keiko; Fukushima Yoshimitsu; Kishi Fumio; Hamamoto Kunihiro; Terai Masaru; Sato Yoshitake; Ouchi Kazunobu; Saji Tsutomu; Nariai Akiyoshi; Kaburagi Yoichi; Yoshikawa Tetsushi; Suzuki Kyoko; Tanaka Takeo; Nagai Toshiro; Cho Hideo; Fujino Akihiro; Sekine Akihiro; Nakamichi Reiichiro; Tsunoda Tatsuhiko; Kawasaki Tomisaku; Nakamura Yusuke; Hata Akira
Nature Genetics, 40(1), 35-42, Jan. 2008, Not invited
Lead - De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.
Tomoki Kosho; Satoru Sakazume; Hiroshi Kawame; Keiko Wakui; Takahito Wada; Yumi Okoshi; Makoto Mikawa; Tomonobu Hasegawa; Nobuo Matsuura; Norio Niikawa; Naomichi Matsumoto; Yoshimitsu Fukushima
Clinical dysmorphology, 17(1), 31-34, Jan. 2008, Refereed, Not invited
Lead - De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment
Kosho, Tomoki; Sakazume, Satoru; Kawame, Hiroshi; Wakui, Keiko; Wada, Takahito; Okoshi, Yumi; Mikawa, Makoto; Hasegawa, Tomonobu; Matsuura, Nobuo; Niikawa, Norio; Matsumoto, Naomichi; Fukushima, Yoshimitsu;
CLINICAL DYSMORPHOLOGY, 17(1), 31-34, Jan. 2008 - Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a Girl With 10.5-11.1 Mb Terminal Deletion of 1p36
Saito, Shoji; Kawamura, Rie; Kosho, Tomoki; Shimizu, Takashi; Aoyama, Koki; Koike, Kenichi; Wada, Takahito; Matsumoto, Naotnichi; Kato, Mitsuhiro; Wakui, Keiko; Fukushima, Yoshimitsu;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(22), 2891-2897, 2008 - Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
Tomoki Kosho; Jun Takahashi; Takashige Momose; Akinori Nakamura; Akihiro Sakurai; Takahito Wada; Kunihiro Yoshida; Keiko Wakui; Takefumi Suzuki; Kazuo Kasuga; Gen Nishimura; Hiroyuki Kato; Yoshimitsu Fukushima
American journal of medical genetics. Part A, 143A(21), 2598-603, Nov. 2007, Refereed, Not invited
Lead - A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia.
Eiko Hidaka; Miyuki Tanaka; Kazuyuki Matsuda; Masayo Ishikawa-Matsumura; Kazuyoshi Yamauchi; Kenji Sano; Takayuki Honda; Keiko Wakui; Ryu Yanagisawa; Yozo Nakazawa; Kazuo Sakashita; Masaaki Shiohara; Eizaburo Ishii; Kenichi Koike
Cancer genetics and cytogenetics, 176(2), 137-43, Jul. 2007, Not invited
Lead - A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12
Onouchi, Yoshihiro; Tamari, Mayumi; Takahashi, Atsushi; Tsunoda, Tatsuhiko; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira;
JOURNAL OF HUMAN GENETICS, 52(2), 179-190, Feb. 2007 - A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.
Yoshihiro Onouchi; Mayumi Tamari; Atsushi Takahashi; Tatsuhiko Tsunoda; Mayumi Yashiro; Yoshikazu Nakamura; Hiroshi Yanagawa; Keiko Wakui; Yoshimitsu Fukushima; Tomisaku Kawasaki; Yusuke Nakamura; Akira Hata
Journal of human genetics, 52(2), 179-190, 2007, Refereed, Not invited
Lead - Mandibuloacral dysplasia and a novel LMNA mutationin in a woman with severe progressive skeletal changes
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;
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(21), 2598-2603, 2007 - A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia
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;
CANCER GENETICS AND CYTOGENETICS, 176(2), 137-143, 2007 - 【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
涌井敬子,福嶋義光
小児内科, 37(増刊), 640-644, 2005
Lead - Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B
Mol Genet Metab, 86, 257-268, 2005, Refereed
Lead - Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
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
Am J Hum Genet, 77, 161-168, 2005, Refereed
Lead - Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL
Am J Med Genet A, 133, 180-183, 2005, Refereed
Lead - Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
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
Eur J Hum Genet, 138, 528-540, 2005, Refereed
Lead - Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
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
Eur J Hum Genet, 138, 528-540, 2005 - Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL
Am J Med Genet A, 133, 180-183, 2005 - Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
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
Am J Hum Genet, 77, 161-168, 2005 - Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation
Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B
Mol Genet Metab, 86, 257-268, 2005 - 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
Ballif BC, Wakui K, Gajecka M, Shaffer LG
Hum Genet, 114, 198-206, 2004, Refereed
Lead - CD40 ligand gene and Kawasaki disease
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
EUROPEAN JOURNAL OF HUMAN GENETICS, 12(12), 1062-1068, 2004, Refereed
Lead - The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
Junichi Kamimura; Keiko Wakui; Hiroko Kadowaki; Yukio Watanabe; Kazuaki Miyake; Naoki Harada; Michiyo Sakamoto; Akira Kinoshita; Koh-Ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Mutsuo Ishikawa; Masato Kasuga; Yoshimitsu Fukushima; Norio Niikawa; Naomichi Matsumoto
Journal of human genetics, 49(7), 360-365, 2004, Refereed, Not invited
Lead - 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
Ballif BC, Wakui K, Gajecka M, Shaffer LG
Hum Genet, 114, 198-206, 2004 - CD40 ligand gene and Kawasaki disease
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
EUROPEAN JOURNAL OF HUMAN GENETICS, 12(12), 1062-1068, 2004 - The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
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
J Hum Genet, 49(7), 360-365, 2004 - 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
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
奈良医学雑誌, 54, 305-311, 2003
Lead - Genome architecture catalyzes nonrecurrent chromosomal rearrangements
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR
Am J Hum Genet, 72, 1101-1116, 2003, Refereed
Lead - Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
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
Hum Mol Genet, 12, 1823-1837, 2003, Refereed
Lead - ‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22) (q14; q11.2) translocation
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
Clin Genet, 63, 79-81, 2003, Refereed
Lead - ‘Severe’ Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t (15, 22) (q14; q11.2) translocation
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
Clin Genet, 63, 79-81, 2003 - Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes
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
Hum Mol Genet, 12, 1823-1837, 2003 - Genome architecture catalyzes nonrecurrent chromosomal rearrangements
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR
Am J Hum Genet, 72, 1101-1116, 2003 - The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females
T. Kubota; K. Wakui; T. Nakamura; H. Ohashi; Y. Watanabe; M. Yoshino; T. Kida; N. Okamoto; M. Matsumura; K. Muroya; T. Ogata; Y. Goto; Y. Fukushima
Cytogenetic and Genome Research, 99(1-4), 276-284, 2002, Refereed, Not invited
Lead - 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
T Saito; A Kinoshita; K Yoshiura; Y Makita; K Wakui; K Honke; N Niikawa; N Taniguchi
JOURNAL OF BIOLOGICAL CHEMISTRY, 276(15), 11469-11472, Apr. 2001, Refereed, Not invited
Lead - Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period - A case report
Saito, N; Ebara, S; Fukushima, Y; Wakui, K; Takaoka, K
SPINE, 26(7), 835-837, 2001, Refereed
Lead - 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
Saito, T; Kinoshita, A; Yoshiura, K; Makita, Y; Wakui, K; Honke, K; Niikawa, N; Taniguchi, N
JOURNAL OF BIOLOGICAL CHEMISTRY, 276(15), 11469-11472, 2001 - Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
S Ishikawa; M Ishikawa; T Tokuda; K Yoshida; K Wakui; S Matsuura; S Ohara; Y Sekijima; E Hidaka; Y Fukushima; H Shigeta; K Komatsu; S Ikeda
AMERICAN JOURNAL OF MEDICAL GENETICS, 94(4), 265-270, Oct. 2000, Refereed, Not invited
Lead - Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases
K Muroya; T Okuyama; K Goishi; Y Ogiso; S Fukuda; J Kameyama; H Sato; Y Suzuki; H Terasaki; H Gomyo; K Wakui; Y Fukushima; T Ogata
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 85(9), 3094-3100, Sep. 2000, Refereed, Not invited
Lead - Habitual abortion and high frequency of low frequent X chromosome monosomy mosaicism: detection by interphase FISH analysis of buccal mucosa cells and lymphocytes
M. Ishikawa; E. Hidaka; K. Wakui; K. Nakayama; Y. Takagi; Y. Fukushima; T. Katsuyama
Rinsho byori. The Japanese journal of clinical pathology, 48(10), 955-959, 2000
Lead - Jumping translocations of 9q onto 14p, 13q and 7q, and pseudo isochromosome 9p results in 9p trisomy syndrome.
Wakui, K; Hidaka, E; Ishikawa, M; Ichikawa, M; Katsuyama, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 152-152, 2000
Lead - Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation
Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 92(4), 256-259, 2000, Refereed, Not invited
Lead - 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
Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, 85(8), 2927-2930, 2000, Refereed, Not invited
Lead - Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
H Tomita; S Nagamitsu; K Wakui; Y Fukushima; K Yamada; M Sadamatsu; A Masui; T Konishi; T Matsuishi; M Aihara; K Shimizu; K Hashimoto; M Mineta; M Matsushima; T Tsujita; M Saito; H Tanaka; S Tsuji; T Takagi; Y Nakamura; S Nanko; N Kato; Y Nakane; N Niikawa
AMERICAN JOURNAL OF HUMAN GENETICS, 65(6), 1688-1697, Dec. 1999, Refereed, Not invited
Lead - 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
Wakui, K; Tanemura, M; Suzumori, K; Hidaka, E; Ishikawa, M; Kubota, T; Fukushima, Y
JOURNAL OF HUMAN GENETICS, 44(2), 85-90, 1999, Refereed
Lead - A gene responsible for paroxysmal kinesigenic choreoathetosis mapped to chromosome 16p11.2-g12.1.
Tomita, H; Yamada, K; Niikawa, N; Nakane, Y; Nagamitsu, S; Matsuishi, T; Wakui, K; Fukushima, Y; Kato, N
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A449-A449, 1999, Refereed
Lead - A familial interstitial deletion of 21q. It is possible for a recessive gene responsible for mental retardation to exist within 21q11-21.
Wakui, K; Kubota, T; Hidaka, E; Ishikawa, M; Katsuyama, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A362-A362, 1999, Refereed
Lead - Aberrant DNA methylation occurs in multiple genes in esophageal cancer tissues.
Kbota, T; Seki, H; Wakui, K; Adachi, W; Nasu, T; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 65(4), A40-A40, 1999
Lead - 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
Wakui, K; Tanemura, M; Suzumori, K; Hidaka, E; Ishikawa, M; Kubota, T; Fukushima, Y
JOURNAL OF HUMAN GENETICS, 44(2), 85-90, 1999 - 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
T Ogata; K Wakui; K Muroya; H Ohashi; N Matsuo; DM Brown; T Ishii; Y Fukushima
HUMAN GENETICS, 103(1), 51-56, Jul. 1998, Refereed, Not invited
Lead - 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
Ogata, T; Wakui, K; Muroya, K; Ohashi, H; Matsuo, N; Brown, DM; Ishii, T; Fukushima, Y
Human Genetics, 103(1), 51-56, 1998 - Identical twins discordant for Turner syndrome fish analysis using interphase nuclei of buccal mucosa
Keiko Wakui; Makoto Mikawa; Yoshimitsu Fukushima
Japanese Journal of Human Genetics, 42(1), 123, 1997
Lead - Detection of additional cryptic chromosome rearrangements by fish in patients with structural chromosome abnormalities: Report of two cases
Kazushige Matsushima; Keiko Wakui; Takeshi Ito; Shoko Tsunoda; Masato Tsukahara; Yoshimitsu Fukushima; Hirofumi Ohashi
Japanese Journal of Human Genetics, 42(1), 123, 1997
Lead - A Yq- CASE of SHORT STATURE with Q-BANDING NEGATIVE HETEROCHROMATIN REGION
Kyoung Chang Kim; Kazunan Matsushima; Tsutomu Ohno; Hirofumi Ohashi; Keiko Wakui; Yoshimitsu Fukushima
Japanese Journal of Human Genetics, 42(1), 121, 1997
Lead - Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13
Kim, KC; Wakui, K; Yamagishi, A; Ohno, T; Sato, M; Imaizumi, S; Aihara, T; Fukushima,Y; Ohashi, H
AMERICAN JOURNALOF MEDICAL GENETICS, 68(1), 70-73, 1997, Refereed
Lead - Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
Orii, KE; Aoyama, T; Wakui, K; Fukushima, Y; Miyajima, H; Yamaguchi, S; Orii, T; Kondo, N; Hashimoto, T
HUMAN MOLECULAR GENETICS, 6(8), 1215-1224, 1997, Refereed
Lead - Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1
Nagai, M; Sakakibara, J; Wakui, K; Fukushima, Y; Igarashi, S; Tsuji, S; Arakawa, M; Ono, T
GENOMICS, 44(1), 141-143, 1997
Lead - HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
Hasegawa,T; Hasegawa, Y; Aso, T; Koto, S; Nagai, T; Tsuchiya, Y; Kim, KC; Ohashi, H; Wakui, K; Fukushima, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 73(4), 416-418, 1997, Refereed
Lead - Advanced diagnosis of chromosome aberrations by FISH analysis with telomeric probes.
Wakui, K; Kubota, T; Suzumori, K; Ogata, T; Ledbetter, DH; Fukushima, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 61(4), A142-A142, 1997
Lead - 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
Aoyama, T; Wakui, K; Orii, KE; Hashimoto, T; Fukushima, Y
CYTOGENETICS AND CELL GENETICS, 79(3-4), 221-224, 1997, Refereed
Lead - Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency
Orii, KE; Aoyama, T; Wakui, K; Fukushima, Y; Miyajima, H; Yamaguchi, S; Orii, T; Kondo, N; Hashimoto, T
HUMAN MOLECULAR GENETICS, 6(8), 1215-1224, 1997 - Interphase cytogenetics using buccal mucosa
Hirofumi Ohashi; Keiko Wakui; Yoshiaki Kin; Yoshimitsu Fukushima
Journal of Human Genetics, 41(1), 64, 1996
Lead - Interstital deletion of the proximal long arm of chromosome 6: Report of a patient
Kazushige Matsushima; Keiko Wakui; Akira Yamagishi; Takeshi Ito; Kibo Yoshida; Masato Sato; Yoshimitsu Fukushima; Hirofumi Ohashi
Japanese Journal of Human Genetics, 41(1), 68, 1996
Lead - A male with the folate-sensitive rare fragile site at 12q24.1
Yoshiaki Kin; Hirofumi Ohashi; Keiko Wakui; Tohru Aoki; Masahiro Iwama; Yoshimitsu Fukushima
Japanese Journal of Human Genetics, 41(1), 68, 1996
Lead - Characterizatin of an interstitial deletion of chromosome 4 [del(4)q31.1q31.3 orq31.3q32.2] in a mother and son by chromosome painting
Keiko Wakui; Akira Yamagishi; Takeshi Ito; Satohiko Imaizumi; Yoshimitsu Fukushima; Hirofumi Ohashi
Japanese Journal of Human Genetics, 41(1), 69, 1996, Refereed
Lead - Interstitial duplication 8q22-q24: Report of a case proven by FISH with mapped cosmid probes
Wakui, K; Ohashi, H; Yamagishi, A; Hamano, S; Nara, T; Ishikiriyama, S; Nakamura, Y; Fukushima, Y
AMERICAN JOURNAL OF MEDICAL GENETICS, 65(1), 36-39, 1996, Refereed
Lead - Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization
Aoyama, T; Wakui, K; Fukushima, Y; Orii, KO; Hashimoto, T
GENOMICS, 37(1), 144-145, 1996, Refereed
Lead - TETRAMELIC MIRROR-IMAGE LIKE POLYDACTYLY AND DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(2-14)(P23.2-Q13)]
OHASHI, H; KIN, Y; IWASAKI, M; OHNO, T; SATO, M; IMAIZUMI, S; AIHARA, T; YAMAGISHI, A; WAKUI, K; FUKUSHIMA, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 57(4), 543-543, 1995
Lead - De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1
Keiko Wakui; Toshiro Nishida; Jun-ichiro Masuda; Takeshi Itoh; Daisuke Katsumata; Tsutomu Ohno; Yoshimitsu Fukushima
The Japanese Journal of Human Genetics, 36(2), 149-153, Jun. 1991
Lead - Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2
K. Narahara; K. Tsuji; Y. Yokoyama; H. Namba; M. Murakami; T. Matsubara; R. Kasai; Y. Fukushima; T. Seki; K. Wakui; Y. Seino
American Journal of Medical Genetics, 40(3), 348-353, 1991
Lead
MISC
- A survey on the recognition of non-invasive prenatal genetic testing (NIPT) among nurses working at a general hospital where NIPT is not conducted
中嶋円; 小島朋美; 黄瀬恵美子; 佐久彰子; 米原優香; 米原優香; 大西徳子; 大西徳子; 永井爽; 永井爽; 永井爽; 神谷素子; 神谷素子; 山口智美; 山口智美; 山口智美; 涌井敬子; 中村勝哉; 高野亨子; 高野亨子; 高長雅美; 臼田和生; 古庄知己; 古庄知己; 古庄知己; 古庄知己; 古庄知己; 古庄知己
日本遺伝カウンセリング学会誌, 45(2), 2024
Lead - 技術講座 遺伝子・染色体 マイクロアレイ染色体検査
涌井 敬子
検査と技術, 51(4), 440 - 449, Apr. 2023
https://search.jamas.or.jp/default/link?pub_year=2023&ichushi_jid=J00421&link_issn=&doc_id=20230322060003&doc_link_id=10.11477%2Fmf.1543208954&url=https%3A%2F%2Fdoi.org%2F10.11477%2Fmf.1543208954&type=%E5%8C%BB%E6%9B%B8.jp_%E3%82%AA%E3%83%BC%E3%83%AB%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00024_2.gif
Lead - 【臨床検査を使いこなす】遺伝子関連検査・染色体検査(造血器腫瘍を除く) 染色体検査 先天異常(小児科領域)
涌井 敬子; 原田 直樹
日本医師会雑誌, 150(特別1), S335 - S339, Jun. 2021
Lead - Questionnaire-based investigation regarding cancer gene panel tests among nurses in a regional core hospital for cacer
加藤純子; 加藤純子; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 高野亨子; 高野亨子; 涌井敬子; 涌井敬子; 古庄知己; 古庄知己
日本遺伝カウンセリング学会誌, 42(2), 73 - 73, 2021
https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J03823&link_issn=&doc_id=20210621410063&doc_link_id=%2Fdg8genco%2F2021%2F004202%2F067%2F0073-0073%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2021%2F004202%2F067%2F0073-0073%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - Decision-making Process about Schooling of Children with Down syndrome
井野元茜; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 涌井敬子; 涌井敬子; 高野亨子; 高野亨子; 古庄知己; 古庄知己
日本遺伝カウンセリング学会誌, 42(2), 127 - 127, 2021
https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2021&ichushi_jid=J03823&link_issn=&doc_id=20210621410172&doc_link_id=%2Fdg8genco%2F2021%2F004202%2F176%2F0127-0127%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2021%2F004202%2F176%2F0127-0127%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - A survey on genetic medicine for Turner syndrome in Center for Medical Genetics at Shinshu University Hospital
中橋紗代子; 小島朋美; 小島朋美; 石川真澄; 黄瀬恵美子; 佐久彰子; 湊川真理; 湊川真理; 中村勝哉; 中村勝哉; 高野亨子; 高野亨子; 涌井敬子; 涌井敬子; 古庄知己; 古庄知己
日本遺伝カウンセリング学会誌, 42(2), 53 - 53, 2021
https://search.jamas.or.jp/default/link?pub_year=2021&ichushi_jid=J03823&link_issn=&doc_id=20210621410023&doc_link_id=%2Fdg8genco%2F2021%2F004202%2F027%2F0053-0053%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2021%2F004202%2F027%2F0053-0053%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 発達の遅れ又は知的障害を伴う先天異常症候群を有する患者のきょうだいに関する研究
佐久 彰子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 高野 亨子; 湊川 真理; 中村 勝哉; 涌井 敬子; 山口 智美; 古庄 知己
日本遺伝カウンセリング学会誌, 41(2), 143 - 143, Jun. 2020, Not invited
Lead - 地域保健と遺伝子医療部門の連携に関する研究 長野県中信地域における保健師の実態調査から
佐々木 亜希子; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 山口 智美; 湊川 真理; 中村 勝哉; 高野 亨子; 涌井 敬子; 古庄 知己
日本遺伝カウンセリング学会誌, 41(2), 145 - 145, Jun. 2020, Not invited
Lead - 信州大学医学部附属病院遺伝子医療研究センターにおける長期フォローアップに関する包括的研究
伊井 美奈代; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 涌井 敬子; 高野 亨子; 中村 勝哉; 山口 智美; 古庄 知己
日本遺伝カウンセリング学会誌, 40(2), 68 - 68, Jul. 2019, Not invited
https://search.jamas.or.jp/default/link?pub_year=2019&ichushi_jid=J03823&link_issn=&doc_id=20190725450037&doc_link_id=%2Fdg8genco%2F2019%2F004002%2F041%2F0068-0068%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2019%2F004002%2F041%2F0068-0068%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - エーラス・ダンロス症候群を有する女性の妊娠・出産・育児についての実態調査
鈴木 みづほ; 小島 朋美; 石川 真澄; 黄瀬 恵美子; 涌井 敬子; 高野 亨子; 中村 勝哉; 山口 智美; 古庄 知己
日本遺伝カウンセリング学会誌, 40(2), 84 - 84, Jul. 2019, Not invited
https://search.jamas.or.jp/default/link?pub_year=2019&ichushi_jid=J03823&link_issn=&doc_id=20190725450069&doc_link_id=%2Fdg8genco%2F2019%2F004002%2F073%2F0084-0084%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2019%2F004002%2F073%2F0084-0084%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 全エクソーム解析でSON遺伝子変異を認めた多発奇形症候群の女児の1例
藤田 直久; 藤田 京志; 稲葉 雄二; 柴崎 択実; 高野 亨子; 山口 智美; 涌井 敬子; 松本 直通; 三宅 紀子; 古庄 知己; 難病克服!NGSDプロジェクト
日本小児科学会雑誌, 123(5), 922 - 923, May 2019
Lead - 新規PDYN変異が見出された脊髄小脳変性症23型2家系の臨床的、細胞生物学的検討
近藤 恭史; 佐藤 俊一; 大原 愼司; 鈴木 絵美; 宮崎 大吾; 中村 勝哉; 山口 智美; 石川 真澄; 涌井 敬子; 古庄 知己; 福嶋 義光; 関島 良樹; 吉田 邦広
臨床神経学, 58(Suppl.), S265 - S265, Dec. 2018, Not invited
Lead - West症候群を合併したXp21.1微細欠失によるDuchenne型筋ジストロフィーの1例
夏目 岳典; 柴 直子; 那須野 将; 柳沢 俊光; 本林 光雄; 高野 亨子; 涌井 敬子; 稲葉 雄二
脳と発達, 50(Suppl.), S439 - S439, May 2018
https://search.jamas.or.jp/default/link?pub_year=2018&ichushi_jid=J01232&link_issn=&doc_id=20180801200695&doc_link_id=%2Fcl1nohat%2F2018%2Fs050s1%2F338%2F5439-5439%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcl1nohat%2F2018%2Fs050s1%2F338%2F5439-5439%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 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
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
日本遺伝カウンセリング学会誌, 38(2), 97 - 97, May 2017, Not invited
https://search.jamas.or.jp/default/link?pub_year=2017&ichushi_jid=J03823&link_issn=&doc_id=20170621360089&doc_link_id=%2Fdg8genco%2F2017%2F003802%2F095%2F0097-0097%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2017%2F003802%2F095%2F0097-0097%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 出生前遺伝カウンセリングに関する提言
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
日本遺伝カウンセリング学会誌, 37(2), 58 - 61, Jun. 2016, Not invited
Lead - 多嚢胞性異形成腎を合併した17q12微細欠失症候群の一例
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
日本小児腎臓病学会雑誌, 28(1Suppl.), 122 - 122, Jun. 2015, Not invited
Lead - NGSDプロジェクト ゲノム時代の臨床遺伝専門医の育成
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
日本遺伝カウンセリング学会誌, 36(2), 87 - 87, May 2015, Not invited
https://search.jamas.or.jp/default/link?pub_year=2015&ichushi_jid=J03823&link_issn=&doc_id=20150609440095&doc_link_id=%2Fdg8genco%2F2015%2F003602%2F064%2F0087-0087%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2015%2F003602%2F064%2F0087-0087%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 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
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
日本遺伝カウンセリング学会誌, 36(2), 89 - 89, May 2015, Not invited
https://search.jamas.or.jp/default/link?pub_year=2015&ichushi_jid=J03823&link_issn=&doc_id=20150609440099&doc_link_id=%2Fdg8genco%2F2015%2F003602%2F068%2F0089-0089%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdg8genco%2F2015%2F003602%2F068%2F0089-0089%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - 染色体検査
Apr. 2015
Lead - 多嚢胞性異形成腎を合併した17q12微細欠失症候群の1例
村瀬 翼; 塩入 崇弘; 五味 優子; 野田 俊輔; 日高 義彦; 柴 直子; 小池 健一; 古庄 知己; 涌井 敬子; 福島 義光
日本小児科学会雑誌, 119(3), 646 - 646, Mar. 2015, Not invited
Lead - 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.
Keiko Wakui
Journal of human genetics, 59(11), 591 - 2, Nov. 2014, Refereed, Invited
Lead, Corresponding - 疾病中心から患者中心の希少難治性疾患研究を可能とする患者支援団体と専門家集団とのネットワーク構築(第3報)
河村 理恵; 松原 洋一; 野村 文夫; 斎藤 加代子; 高田 史男; 小杉 眞司; 玉置 知子; 櫻井 晃洋; 関島 良樹; 涌井 敬子; 加藤 光広; 小泉 二郎; 中村 勝哉; 香取 久之; 古庄 知己; 福嶋 義光
日本遺伝カウンセリング学会誌, 35(2), 114 - 114, May 2014, Not invited
Lead - 【いまさら聞けない『遺伝医学』】臨床細胞遺伝学
涌井 敬子
遺伝子医学MOOK, 別冊(いまさら聞けない「遺伝医学」), 25 - 41, Apr. 2014
Lead - SWI/SNF複合体を構成する遺伝子変異に基づくCoffin-Siris症候群 長野県内3例の臨床像
古庄 知己; 鳴海 洋子; 涌井 敬子; 福嶋 義光; 高橋 淳; 川目 裕; 長沼 邦明; 橋本 大彦; 木口 サチ; 鶴崎 美徳; 三宅 紀子; 松本 直通
日本小児科学会雑誌, 116(8), 1306 - 1306, Aug. 2012
Lead - 骨髄異形成を伴う15q24欠失症候群の1例
鳴海 洋子; 塩原 正明; 涌井 敬子; 濱 麻人; 小島 勢二; 吉川 健太郎; 天野 芳郎; 古庄 知己; 福嶋 義光
日本小児科学会雑誌, 116(2), 324 - 324, Feb. 2012
Lead - 脊髄小脳失調症31型(SCA31)患者の末梢血白血球を用いた網羅的遺伝子発現解析
吉田 邦広; 宮崎 大吾; 日根野 晃代; 涌井 敬子; 小柳 清光; 松本 直通; 池田 修一
臨床神経学, 51(12), 1229 - 1229, Dec. 2011
Lead - Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
Wakabayashi Yasushi; Yamazaki Kyohei; Narumi Yoko; Fuseya Satoshi; Horigome Miki; Wakui Keiko; Fukushima Yoshimitsu; Matsubara Yoichi; Aoki Yoko; Kosho Tomoki
Am J Med Genet A, 155(10), 2529 - 2533, 2011, Not invited
Lead - 【遺伝医学】染色体検査結果をどう読むか
涌井 敬子
アニムス, 14(4), 21 - 26, Oct. 2009
Lead - 検査じょうほう室 診療支援 遺伝学的検査に関する注意点
涌井 敬子; 福嶋 義光
検査と技術, 35(2), 162 - 165, Feb. 2007
https://search.jamas.or.jp/default/link?pub_year=2007&ichushi_jid=J00421&link_issn=&doc_id=20070226150017&doc_link_id=10.11477%2Fmf.1543101201&url=https%3A%2F%2Fdoi.org%2F10.11477%2Fmf.1543101201&type=%E5%8C%BB%E6%9B%B8.jp_%E3%82%AA%E3%83%BC%E3%83%AB%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00024_2.gif
Lead - 遺伝カウンセリング・ロールプレイ実習の医学教育における意義
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
医学教育, 35(Suppl.), 26 - 26, Jul. 2004
Lead - 【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
和田 敬仁; 涌井 敬子; 福嶋 義光
小児科臨床, 56(増刊), 1472 - 1480, Jul. 2003, Not invited
https://search.jamas.or.jp/default/link?pub_year=2003&ichushi_jid=J00643&link_issn=&doc_id=20030627090043&doc_link_id=%2Fag1snrsd%2F2003%2F0056s1%2F043%2F1472-1480%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fag1snrsd%2F2003%2F0056s1%2F043%2F1472-1480%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif
Lead - SHOX過剰と性腺異形成を有する患者の成長パターン 新しい高身長疾患単位の提唱
緒方 勤; 室谷 浩二; 佐藤 清二; 松尾 宣武; 涌井 敬子; 福嶋 義光; 吉本 真奈美; 三春 範夫
日本小児科学会雑誌, 105(5), 601 - 601, May 2001, Not invited
Lead - 第10染色体長腕遠位部に想定される泌尿生殖器分化遺伝子(群)の限局化
室谷 浩二; 緒方 勤; 佐藤 清二; 松尾 宣武; 長谷川 行洋; 坂爪 悟; 永井 敏郎; 涌井 敬子; 福嶋 義光
日本小児科学会雑誌, 105(5), 626 - 626, May 2001, Not invited
Lead - 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.
T Kubota; K Wakui; Y Watanabe; M Yoshino; N Okamoto; T Kida; H Ohashi; Y Fukushima
AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 157 - 157, Oct. 2000, Not invited
Lead - Mendelian Cytogenetics Network 疾患に関連する染色体均衡型構造異常症例のデータベース化と株化細胞保存の重要性
涌井 敬子
信州医学雑誌, 48(1), 43 - 44, Feb. 2000
Lead - 低身長男児における異常Y染色体の構造決定と遺伝子型-表現型解析
室谷 浩二; 緒方 勤; 松尾 宣武; 涌井 敬子; 福嶋 義光; 山内 素子; 高野 貴子; Rappold Gudrun; 鈴木 賀巳
日本小児科学会雑誌, 103(5), 578 - 578, May 1999, Not invited
Lead - 第10染色体長腕遠位部に想定される泌尿生殖器分化遺伝子(群)の限局化
緒方 勤; 室谷 浩二; 石井 智弘; 佐藤 清二; 松尾 宣武; 涌井 敬子; 福嶋 義光; 安蔵 慎; 長谷川 行洋; 永井 敏郎
日本小児科学会雑誌, 103(5), 577 - 577, May 1999, Not invited
Lead - 重度発達遅滞を呈した環状X染色体の2症例 functional disomyの新しいメカニズム
久保田 健夫; 涌井 敬子; 小嶋 牧子; 福嶋 義光; 渡辺 順子; 芳野 信; 大橋 博文
日本小児科学会雑誌, 103(3), 347 - 347, Mar. 1999
Lead - 脳形成異常の発生機序に関する臨床的・基礎的研究 各染色体腕特異的テロメアプローブを用いたFISH解析の臨床応用
福嶋 義光; 涌井 敬子; 久保田 健夫; 大橋 博文
厚生省精神・神経疾患研究委託費による研究報告集, 平成9年度, 364 - 364, Aug. 1998
Lead
Books and other publications
- 臨床検査を使いこなす (日本医師会生涯教育シリーズ)
原田直樹; 涌井敬子, Contributor, VII 遺伝子関連検査・染色体検査(造血器腫瘍を除く) 染色体検査.出生前診断
南山堂, Jul. 2021
ISBN:4525211016臨床検査を使いこなす (日本医師会生涯教育シリーズ)
涌井敬子; 原田直樹, Contributor, VII 遺伝子関連検査・染色体検査(造血器腫瘍を除く) 染色体検査.先天異常
南山堂, Jul. 2021
ISBN:4525211016遺伝子医学 通巻31号(復刊6号)(2020年1月)(Vol.10 No.1)特集/エピゲノム医療
涌井敬子, Contributor, 細胞遺伝学的検査結果を理解するために −染色体核型記載の基本−
メディカルドゥ, Jan. 2020
ISBN:4909508058トンプソン&トンプソン遺伝医学 第2版
涌井敬子, Joint translation, 第5章 臨床細胞遺伝学的解析とゲノム解析の原理
エルゼビア・ジャパン,メディカル・サイエンス・インターナショナル (販売), Mar. 2017
ISBN:9784895928755遺伝カウンセリングマニュアル(改訂第3版)
涌井敬子, Contributor, 細胞遺伝学的検査 pp.43-47
南江堂, Apr. 2016
ISBN:4524266674臨床検査法提要(改訂第34版)
涌井敬子; 福嶋義光, Contributor, 第12章 染色体・遺伝子関連検査 Ⅱ.染色体検査 pp.1201-1248
金原出版, Jun. 2015
ISBN:4307050428臨床検査法提要(改訂第34版)
福嶋義光、涌井敬子, Contributor, 第12章 染色体・遺伝子関連検査 Ⅰ.染色体・遺伝子関連検査総論
金原出版, Jun. 2015
ISBN:4307050428臨床細胞遺伝学
2014臨床検査法提要 改訂第33版
福嶋義光、涌井敬子, Contributor, 染色体検査・遺伝子関連検査総論 pp.1113-1117
金原出版, Apr. 2010
ISBN:430705038X臨床検査法提要 改訂第33版
涌井敬子; 福嶋義光, Contributor, 染色体検査 pp.1117-1164
金原出版, Apr. 2010
ISBN:430705038X遺伝子診療学 -遺伝子診断の進歩とゲノム治療の展望- 遺伝学的検査に関する資格と人材育成
Contributor
日本臨牀増刊 68巻 Suppl 8,299-304, 2010遺伝子診療学 -遺伝子診断の進歩とゲノム治療の展望- 臨床細胞遺伝学
涌井敬子, Contributor
日本臨牀増刊 増刊号 68巻 Suppl 8,13-19, 2010トンプソン&トンプソン遺伝医学
涌井敬子, Joint translation, 第5章 臨床細胞遺伝学の原理
メディカルサイエンスインターナショナル, Apr. 2009
ISBN:4895926001染色体検査結果をどう読むか
涌井敬子, Contributor
最新医療情報雑誌アニムス,pp.21-26, 2009【検査じょうほう室 診療支援】 遺伝学的検査に関する注意点
Contributor
検査と技術,35巻2号 pp.162-165, 2007染色体異常症と臨床検査 染色体検査の倫理
涌井敬子, Contributor
Medical Technology 35巻 pp.1149-1154, 2007生体試料の取り扱いと倫理 その3 遺伝子・染色体検査
涌井敬子; 福嶋義光, Contributor
検査と技術,34:271-275, 2006臨床検査法提要 第32版
福嶋義光; 涌井敬子; 金子安比古, Contributor, 第13章 染色体・遺伝子検査 pp.1161-1231
金原出版, Feb. 2005
ISBN:4307050355【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
涌井敬子, Contributor
小児内科,37:640-644, 2005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)
涌井敬子, Contributor
日本臨床,63巻増刊 【遺伝子診療学 遺伝子診断の進歩と遺伝子治療の展望】,12:162-166, 2005, 2005遺伝カウンセリングマニュアル 改訂第2版
涌井敬子, Contributor, 細胞遺伝学的検査
南江堂, Aug. 2003
ISBN:4524235035臨床検査法提要 改訂第31版
福嶋義光; 涌井敬子; 久保田健夫; 金子安比古, Contributor, 染色体検査 pp.161-173
金原出版, Jun. 2001
ISBN:4307050339Lectures, oral presentations, etc.
- CNV結果解釈の留意点:既知の反復性病的CNV領域を含む欠失でも、欠失範囲の再確認と不均衡型染色体構造異常に伴うCNVである可能性を考慮したG分染結果の見直しと分裂像FISH解析が考慮される
涌井敬子
第46回日本小児遺伝学会学術集会, Dec. 2023Three patients with Wiedemann-Steiner syndrome
Kyoko Takano
ASHG 2023 Annual Meeting, Nov. 2023Intrachromosomal copy number gain adjacent to a terminal loss: Points to consider for interpreting CNVs
Keiko Wakui
日本人類遺伝学会第68回大会、Human Genetics Asia 2023, Oct. 2023マイクロアレイ染色体検査でコピー数バリアントを評価する際の留意点 〜ゲノム物理位置に着目して〜
涌井敬子
第30回日本遺伝子診療学会, Jul. 2023遺伝学的検査結果解釈補助ツールの作成
渡辺基子; 二川摩周; 津幡真理; 涌井敬子; 中國正祥; 佐村 修; 中山智祥
第47回日本遺伝カウンセリング学会学術集会, Jul. 2023, Not invitedPMEPA1 mutation found in 3 Japanese families with systemic connective tissue disorders
Hiroko Morisaki; Itaru Yamanaka; Takako Ohata; Tomoki Kosho; Keiko Wakui; Mitsuo Masuno; Tetsuro Watabe; Yukihide Watanabe; Takayuki Morisaki
European Human Genetics Conference 2023, Jun. 2023染色体端部に切断点を有する構造異常に当該領域の欠失が検出されなかった症例から学ぶCNV解釈の留意点
涌井敬子
第45回日本小児遺伝学会学術集会, Jan. 2023マイクロアレイ染色体検査で検出されうる 染色体中間部の非反復性ゲノムコピー数減少に伴う 染色体再構成に関する文献的考察
涌井敬子
日本人類遺伝学会第67回大会, Dec. 2022マイクロアレイ染色体検査で染色体不均衡型転座を見逃さないために - G分染法で未検出の不均衡型転座を確認した症例から考察する
涌井敬子
第46回日本遺伝カウンセリング学会学術集会, Jul. 2022細胞遺伝学基礎
涌井敬子
第28回臨床細胞遺伝学セミナー, Dec. 2021, 日本人類遺伝学会, Invitedマイクロアレイ解析で7p端部lossと7q端部gainを検出した環状7番染色体の追加FISH解析
涌井敬子
つながる2021 第44回日本小児遺伝学会・第3回日本ダウン症学会・第3回日本ダウン症会議 合同学術集会, 2021G分染法で検出された不均衡型構造異常染色体のCGH+SNPアレイによるCNVs領域特定とSNP genotypeトリオ解析による親由来の検討
涌井敬子
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催, 2021臨床細胞遺伝学/臨床細胞ゲノム学の基礎
涌井敬子
第27回臨床細胞遺伝学セミナー, Oct. 2020, 日本人類遺伝学会, Invitedマイクロアレイ染色体検査結果解釈の留意点: SNPアレイ解析で15番染色体の一部にAOHを検出したPrader-Willi症候群の解析結果から
涌井敬子
第44回日本遺伝カウンセリング学会学術集会, Jul. 2020Copy number losses of 11p14.3-p13 and 11p13-p12 detected by CGH array revealed to be heterozygous deletion of 11p14.3-p12 on one chromosome 11 and heterozygous duplication within 11p13 on the other chromosome 11 by metaphase FISH analysis
Keiko Wakui
The European Human Genetics Virtual Conference 2020, 2020モザイクを示唆するゲノムコピー数増加のデータをきっかけに確認した染色体異数性異常モザイクおよび染色体構造異常モザイク症例の検証と考察
日本人類遺伝学会第64回大会, 2020マイクロアレイ染色体検査にて検出した病的CNV情報を含む最終核型決定に分裂像FISH解析が必須だった染色体構造異常例
日本人類遺伝学会第64回大会, 2019生殖細胞系列のゲノムコピー数バリアントの臨床的評価に関する考察
第43回日本遺伝カウンセリング学会学術集会,第26回日本遺伝子診療学会大会 合同学術集会, 2019Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants inKMT5B.
Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
The American Society of Human Genetics 68th Annual Meeting, 2018Three individuals with neurodevelopmental disorders caused by hetero-zygous protein- truncating variants in KMT5B.
Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
The American Society of Human Genetics 68th Annual Meeting, 2018Retrospective evaluation of rare benign CNVs detected by chromosomal microarray.
Wakui K(corresponding author; Kosho T; Takano K; Narumi Y; Shimizu K; Nishi E; Mizuno S; Yamaguchi T; Kawamura R; Ohashi H; Fukushima Y
The 13th International Congress of Human Genetics, 2016,Evaluation of the parental origin of the chromosomes by using SNP genotype data from CGH+SNP microarray: Two cases with multiple congenital abnormalities.
akui K(corresponding author; Takano K; Kosho T; T. Yamaguchi T; Takahashi Y; Kawamura R; Fukushima Y
The American Society of Human Genetics 66th Annual Meeting, 2016Establishment of a single-cell RNA/DNA-FISH method for detecting inactivation patterns of structural X chromosome abnormalities.
Kawamura R; Iha W; Fukushima Y; Wakui K(corresponding author)
10th European cytogenetics conference, 2015,Incidental findings(偶発的所見)を考える:細胞遺伝学的検査の視点から
涌井敬子
日本人類遺伝学会第60回大会, 2015, InvitedVisualization of XIST expression in a female with structural X chromosome abnormality: Single-cell analysis by three-color interphase RNA-FISH.
Iha W; Kawamura R; Yamaguchi T; Fukushima Y; Wakui K(corresponding author)
The European Human Genetics Conference 2014, 2014,臨床細胞遺伝学
涌井敬子
日本人類遺伝学会第57回大会, 2012, InvitedNonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization
Kawamura R; H. Tanabe; T. Wada; S. Saitoh; Fukushima Y; Wakui K(corresponding author
The European Human Genetics Conference 2012, 2012,Molecular cytogenetic evaluation of a proband with 12p13.32 terminal deletion and her parent with inv(12)(p13.33p12.1)
Wakui K; Kosho T; Nishimura A; Uhara M; Matsuda K; Hidaka E; Kawamura R; Matsumoto N; Fukushima Y
The American Society of Human Genetics 58th Annual Meeting, 2009Reconfirmation of terminal deletions and derivative chromosomes by MLPA subtelomeric screening
Wakui K; Furui Y; Shinogi K; Fukui T; Kawamura1 R; Kinishita1 Y; Kosho T; Wada T; Ohashi H; Matsumoto N; Gondo N; Yokoyama S; Higashi H; Fukushima Y
The European Human Genetics Conference 2008, 2008進化する細胞遺伝学:遺伝医療における染色体検査の現状と染色体異常スクリーニング(MLPA法を中心に)
涌井敬子
日本人類遺伝学会第53回大会, 2008, InvitedDiscrepancies of the results between MLPA and FISH, and between MLPA kits, observed in a case of subtelomeric imbalances of chromosome 12
Wakui K; Y. Kinishita; Y. Furui; K. Shinogi; T. Fukui; R. Kawamura; N. Gondo; S. Yokoyama; H. Higashi; Fukushima Y
The American Society of Human Genetics 57th Annual Meeting, 2007CRYPTIC CHROMOSOMAL REARRANGEMENTS OVERLOOKED BY CYTOGENETIC TECHNIQUE
Keiko Wakui
12th International Society for Prenatal Diagnosis and Therapy, 2006, InvitedDetermination of bounds for the deletion at Xp21 in families with X-linked adreanal hypoplasia congenita
Wakui K; T. Nishikubo; K. Nishio; Fukushima Y
11th International Congress of Human Genetics, 2006Affiliated academic society
Research Themes
- 知的発達症におけるヒストンリジンメチル化の役割の解明
科学研究費補助金(文部科学省基盤研究(C)), 文部科学省基盤研究(C)
2022 - 神経発達症の遺伝学的背景の探索
科学研究費補助金(文部科学省基盤研究(C)), 文部科学省基盤研究(C)
2018 - 2021 - 染色体微細欠失重複症候群の包括的診療体制の構築
科学研究費補助金(厚生労働科学研究費補助金( 難治等 一般 )), 厚生労働科学研究費補助金(難治等 一般)
2018 - 2020 - 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
科学研究費補助金(文部科学省基盤研究(C)), 文部科学省基盤研究(C)
2016 - 2018 - 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
科学研究費補助金(文部科学省基盤研究(C)), 文部科学省基盤研究(C)
2016 - 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
科学研究費補助金(基盤研究(C)), 基盤研究(C)
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
科学研究費補助金, 基盤研究(C)
2015 - 2017 - 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
科学研究費補助金(厚生労働科学研究費補助金 難治性疾患克服研究事業), 厚生労働科学研究費補助金 難治性疾患克服研究事業
2015 - Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome
Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research (C)
Shinshu University
01 Apr. 2013 - 31 Mar. 2016 - 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
科学研究費補助金(挑戦的萌芽研究), 挑戦的萌芽研究
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
科学研究費補助金, 挑戦的萌芽研究
2012 - 2013 - 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
科学研究費補助金(基盤研究(C)(一般)), 基盤研究(C)(一般)
2011 - 2013 - 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
科学研究費補助金(厚生労働科学研究費補助金 難治性疾患克服研究事業), 厚生労働科学研究費補助金 難治性疾患克服研究事業
2011 - 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
科学研究費補助金()
2011 - 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
科学研究費補助金, 基盤研究(C)
2008 - 2010 - Study of the effect on the chromosomal territory in the nucleus by the mutated chromatin remodeling protein, ATRX
Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research (C)
Shinshu University
2007 - 2008 - Establishment of Ethics Guideline in Medical Genetics
Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research (C)
Shinshu University
2006 - 2008 - 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
科学研究費補助金, 基盤研究(C)
2006 - 2007 - Clinical application of genome-medical research
Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research on Priority Areas
Shinshu University
2005 - 2009 - Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.
Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Grant-in-Aid for Scientific Research (B)
Shinshu University
2000 - 2003 - 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
科学研究費補助金(厚生労働科学研究費補助金 難治性疾患克服研究事業) - 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
科学研究費補助金(基盤研究(C)) - 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
科学研究費補助金(基盤研究(C)) - Nuclear Architecture of human genome and gene expression
- molecular cytogenetic research of chromosomal structural abnormalities
- Genomic Variants and Gene expression
- Genomic Variants and Gene expression
- Nuclear Architecture of human genome and gene expression
- molecular cytogenetic research of chromosomal structural abnormalities