Basic Information

Professional Memberships

• The Japanese Society for Gene Diagnosis and Therapy
• The Japan Society of Human Genetics

Academic Degree

• 博士（医学）(長崎大学)

Academic Resume (Graduate Schools)

• 長崎大学, 大学院医学研究科博士課程新興感染症病態制御学系専攻, 修了

Research History

• Kyoto University

researchmap URL

• https://researchmap.jp/nkharada_cytogenom

Research

Research Topics, Overview of the research

• Research Topics

  Management and Operation of Common Equipment Management Office of CiRA

• Overview of the research

  My main task is to operate the Common Equipment Management Office at the Center for iPS Cell Research and Application (CiRA). The Common Equipment Management Office aims to support the research of the in-house laboratory and is currently working in three groups: FACS, Imaging, and Genome Analysis. As the head, I would like to continue to promote the smooth and fair operation of the Common Equipment Management Office and contribute to strengthening the research base of CiRA.
  As my research subject, I have been involved in the Ministry of Health, Labor and Welfare policy research related to developing intractable disease genomic medicine since 2018. The research is a policy recommendation for the development and operation guidance of diagnostic tests for intractable diseases and the suggestion of an evidence-based insurance reimbursement system. I am also working on the planning of an intractable disease genomic medical base hospital concept. This research aims to return the results of the basic research, including iPS cell research, to actual medical care. I am going to continue to work on it in the future.
  

Research Interests

• Regulatory Science
• Clinical Cytogenetics
• Molecular Genetics
• Regenerative Medicine

Research Areas

• Life sciences, Genetics

Papers

• Origin and mechanism of mixoploidy composed of 45,x and 47,xx,+ 21 cell lines in a fetus

  Naoki Harada; Kyohko Abe; Tomoko Nishimura; Masakazu Souda; Kazuo Noda; Kiminori Sasak; Mutsuo Ishikawa; Tadashi Matsumoto; Norio Niikawa

  Japanese Journal of Human Genetics, 1997

  
• Application of fluorescence in situ hybridization to the identification of aneuploids in amniotic fluid cells

  N. Harada; T. Nishimura; K. Abe; N. Niikawa

  Japanese Journal of Human Genetics, 1996

  
• Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing.

  Atsushi Hijikata; Mikita Suyama; Shingo Kikugawa; Ryo Matoba; Takuya Naruto; Yumi Enomoto; Kenji Kurosawa; Naoki Harada; Kumiko Yanagi; Tadashi Kaname; Keisuke Miyako; Masaki Takazawa; Hideo Sasai; Junichi Hosokawa; Sakae Itoga; Tomomi Yamaguchi; Tomoki Kosho; Keiko Matsubara; Yoko Kuroki; Maki Fukami; Kaori Adachi; Eiji Nanba; Naomi Tsuchida; Yuri Uchiyama; Naomichi Matsumoto; Kunihiro Nishimura; Osamu Ohara

  Nucleic acids research, 28 Nov. 2023

  
• Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

  Nadiya Sosonkina; Miyake Noriko; Ohta Tohru; Harada Naoki; Fukushima Yoshimitsu; Matsumoto Naomichi. et. al.; KOSHO Tomoki; NIIKAWA Norio; MATSUMOTO Naomichi

  Acta medica Nagasakiensia, Mar. 2007

  
• 指定難病の検査体制に関するアンケート調査

  難波 栄二; 足立 香織; 佐藤 万仁; 小原 收; 宮地 勇人; 中山 智祥; 古庄 知己; 原田 直樹; 奥山 虎之; 後藤 雄一

  日本遺伝カウンセリング学会誌, Jun. 2020

  
• 次世代シークエンサーを使用する遺伝学的検査の品質課題への対応策

  原田 直樹; 小原 収; 要 匡; 堤 正好; 足立 香織; 難波 栄二

  日本遺伝カウンセリング学会誌, Jun. 2020

  
• A Clinical Study of Patients With Pericentromeric Deletion and Duplication Within 16p12.2-p11.2

  Nobuhiko Okamoto; Tatsuya Fujii; Junko Tanaka; Kazumasa Saito; Takeshi Matsui; Naoki Harada

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jan. 2014, Peer-reviewed

  
• A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

  Atsushi Fujita; Hiroshi Suzumura; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Naoki Harada; Naomichi Matsumoto; Noriko Miyake

  American Journal of Medical Genetics, Part A, Aug. 2013, Peer-reviewed

  
• Microduplication of Xq24 and Hartsfield Syndrome With Holoprosencephaly, Ectrodactyly, and Clefting

  Toshiki Takenouchi; Hironobu Okuno; Rika Kosaki; Daisuke Ariyasu; Chiharu Torii; Suketaka Momoshima; Naoki Harada; Hiroshi Yoshihashi; Takao Takahashi; Midori Awazu; Kenjiro Kosaki

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Oct. 2012, Peer-reviewed

  
• Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

  Kana Hosoki; Tohru Ohta; Jun Natsume; Sumiko Imai; Akihisa Okumura; Takeshi Matsui; Naoki Harada; Carlos A. Bacino; Fernando Scaglia; Jeremy Y. Jones; Norio Niikawa; Shinji Saitoh

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Aug. 2012, Peer-reviewed

  
• Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)

  Hirotomo Saitsu; Hitoshi Osaka; Shirou Sugiyama; Kenji Kurosawa; Takeshi Mizuguchi; Kiyomi Nishiyama; Akira Nishimura; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Mitsuhiro Kato; Naomichi Matsumoto

  American Journal of Medical Genetics, Part A, Jan. 2012, Peer-reviewed

  
• Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation

  Satoru Sakazume; Hirofumi Ohashi; Yuki Sasaki; Naoki Harada; Katsumi Nakanishi; Hidenori Sato; Mitsuru Emi; Kazushi Endoh; Ryoichi Sohma; Yasuhiro Kido; Toshiro Nagai; Takeo Kubota

  HUMAN GENETICS, Jan. 2012, Peer-reviewed

  
• Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

  Hidefumi Tonoki; Naoki Harada; Osamu Shimokawa; Ayako Yosozumi; Kadomi Monzaki; Kohei Satoh; Rika Kosaki; Atsushi Sato; Naomichi Matsumoto; Susumu Iizuka

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Dec. 2011, Peer-reviewed

  
• Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

  K. Sasaki; N. Okamoto; K. Kosaki; T. Yorifuji; O. Shimokawa; H. Mishima; K. I. Yoshiura; N. Harada

  Clinical Genetics, Nov. 2011, Peer-reviewed

  
• De Novo 5q14.3 Translocation 121.5-kb Upstream of MEF2C in a Patient With Severe Intellectual Disability and Early-Onset Epileptic Encephalopathy

  Hirotomo Saitsu; Noboru Igarashi; Mitsuhiro Kato; Ippei Okada; Tomoki Kosho; Osamu Shimokawa; Yuki Sasaki; Kiyomi Nishiyama; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Naoki Harada; Kiyoshi Hayasaka; Naomichi Matasumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Nov. 2011, Peer-reviewed

  
• Miller syndrome with novel dihydroorotate dehydrogenase gene mutations

  Fumiko Kinoshita; Tatsuro Kondoh; Kazuhiro Komori; Takeshi Matsui; Naoki Harada; Akinori Yanai; Masafumi Fukuda; Kanako Morifuji; Tadashi Matsumoto

  PEDIATRICS INTERNATIONAL, Aug. 2011, Peer-reviewed

  
• Dandy-Walker Malformation Associated With Heterozygous ZIC1 and ZIC4 Deletion: Report of a New Patient

  Jun Tohyama; Mitsuhiro Kato; Sari Kawasaki; Naoki Harada; Hiroki Kawara; Takeshi Matsui; Noriyuki Akasaka; Tsukasa Ohashi; Yu Kobayashi; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jan. 2011, Peer-reviewed

  
• Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

  Tsuguhiro Horikoshi; Akihiko Kikuchi; Shunsuke Tamaru; Kyoko Ono; Mariko Kita; Kimiyo Takagi; Susumu Miyashita; Hiroshi Kawame; Osamu Shimokawa; Naoki Harada

  JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, Jun. 2010, Peer-reviewed

  
• Characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing Loss

  Hirotomo Saitsu; Kenji Kurosawa; Hiroki Kawara; Maki Eguchi; Takeshi Mizuguchi; Naoki Harada; Tadashi Kaname; Hiroki Kano; Noriko Miyake; Tatsushi Toda; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jun. 2009, Peer-reviewed

  
• Prenatal Diagnosis of Costello Syndrome Using 3D Ultrasonography Amniocentesis Confirmation of the Rare HRAS Mutation G12D

  Hideo Kuniba; Ritsuko K. Pooh; Kensaku Sasaki; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masanori Egashira; Hiroyuki Moriuchi; Koh-ichiro Yoshiura; Norio Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Apr. 2009, Peer-reviewed

  
• Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia

  Takeshi Mizuguchi; Ryota Hashimoto; Masanari Itokawa; Akira Sano; Osamu Shimokawa; Yukiko Yoshimura; Naoki Harada; Noriko Miyake; Akira Nishimura; Hirotomo Saitsu; Nadiya Sosonkina; Norio Niikawa; Hiroshi Kunugi; Naomichi Matsumoto

  Journal of Human Genetics, Oct. 2008, Peer-reviewed

  
• Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

  Masanori Egashira; Tatsuro Kondoh; Hiroki Kawara; Hideki Motomura; Masato Tagawa; Naoki Harada; Hiroyuki Moriuchi

  PEDIATRICS INTERNATIONAL, Aug. 2008, Peer-reviewed

  
• Craniosynostosis in a patient with a de novo 15q15-q22 deletion

  Yoko Hiraki; Miyuki Moriuchi; Nobuhiko Okamoto; Nobutsune Ishikawa; Yosuke Sugimoto; Kuniki Eguchi; Haruya Sakai; Hirotomo Saitsu; Takeshi Mizuguchi; Naoki Harada; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jun. 2008, Peer-reviewed

  
• Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

  Toshiyuki Yamamoto; Yuri Dowa; Hideaki Ueda; Motoyoshi Kawataki; Toshihide Asou; Yuki Sasaki; Naoki Harada; Naomichi Matsumoto; Rumiko Matsuoka; Kenji Kurosawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jun. 2008, Peer-reviewed

  
• Two new cases of pure 1q terminal deletion presenting with brain malformations

  Yoko Hiraki; Nobuhiko Okamoto; Tomoko Ida; Yusei Nakata; Masahiro Kamada; Yonehiro Kanemura; Mami Yamasaki; Hiroko Fujita; Gen Nishimura; Mitsuhiro Kato; Naoki Harada; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, May 2008, Peer-reviewed

  
• Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

  Marco T. Paez; Toshiyuki Yamamoto; Ken-ichi Hayashi; Toshiyuki Yasuda; Naoki Harada; Naomichi Matsumoto; Kenji Kurosawa; Yoshiyuki Furutani; Shuichi Asakawa; Nobuyoshi Shimizu; Rumiko Matsuoka

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, May 2008, Peer-reviewed

  
• Pre- and postnatal overgrowth in a patient with proximal 4p deletion

  Lingqian Wu; Zhigao Long; Desheng Liang; Naoki Harada; Qian Pan; Koh-Ichiro Yoshiura; Kun Xia; Heping Dai; Norio Niikawa; Jiahui Xia

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Mar. 2008, Peer-reviewed

  
• A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

  Daisuke Sato; Hiroki Kawara; Osamu Shimokawa; Naoki Harada; Hidefumi Tonoki; Nobuhiro Takahashi; Yumi Imai; Hiromi Kimura; Naomichi Matsumoto; Tadashi Ariga; Norio Niikawa; Koh-ichiro Yoshiura

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jan. 2008, Peer-reviewed

  
• Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

  Taeko Kikuchi; Masayo Nomura; Hiroaki Tomita; Naoki Harada; Kazuaki Kanai; Tohru Konishi; Ayako Yasuda; Masato Matsuura; Nobumasa Kato; Koh-Ichiro Yoshiura; Norio Niikawa

  Journal of Human Genetics, Apr. 2007, Peer-reviewed

  
• Congenital arhinia: Molecular-genetic analysis of five patients

  Daisuke Sato; Osamu Shimokawa; Naoki Harada; Oystein E. Olsen; Jia-Woei Hou; Wolfgang Muhlbauer; Ellen Blinkenberg; Nobuhiko Okamoto; Akira Kinoshita; Naomichi Matsumoto; Shinji Kondo; Tatsuya Kishino; Nobutomo Miwa; Tadashi Ariga; Norio Niikawa; Koh-ichiro Yoshiura

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Mar. 2007, Peer-reviewed

  
• Angelman syndrome caused by an identical familial 1,487-kb deletion

  Kanako Sato; Mie Iwakoshi; Osamu Shimokawa; Haruya Sakai; Tohru Ohta; Shinji Saitoh; Noriko Miyake; Norio Niikawa; Naoki Harada; Hirotomo Saitsu; Takeshi Mizuguchi; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jan. 2007, Peer-reviewed

  
• Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

  Kiyonori Miura; Koh-ichiro Yoshiura; Shoko Miura; Tatsuro Kondoh; Naoki Harada; Kentaro Yamasaki; Yoko Fujimoto; Yoko Yamasaki; Terunii Tanigawa; Yuriko Kitajima; Takako Shimada; Atsushi Yoshida; Daisuke Nakayama; Masato Tagawa; Shuichiro Yoshimura; Joseph Wagstaff; Yoshihiro Jinno; Tadayuki Ishimaru; Norio Niikawa; Hideaki Masuzaki

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Sep. 2006, Peer-reviewed

  
• Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes

  Osamu Shimokawa; Naoki Harada; Noriko Miyake; Kanako Satoh; Takeshi Mizuguchi; Norio Niikawa; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Sep. 2006, Peer-reviewed

  
• Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses

  Shoko Miura; Kiyonori Miura; Toshiyuki Yamamoto; Michiko Yamanaka; Keisuki Saito; Tomoo Hirabuki; Kenji Kurosawa; Naoki Harada; Yoko Ishizaki-Yamasaki; Naomichi Matsumoto; Fumiki Hirahara; Koh-ichiro Yoshiura; Hideaki Masuzaki; Norio Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Aug. 2006, Peer-reviewed

  
• Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)

  Yoko Hiraki; Hiroko Fujita; Shunji Yamamori; Hirofumi Ohashi; Maki Eguchi; Naoki Harada; Takeshi Mizuguchi; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Aug. 2006, Peer-reviewed

  
• Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or marfan-related phenotypes

  Haruya Sakai; Remco Visser; Shiro Ikegawa; Etsuro Ito; Hironao Numabe; Yoriko Watanabe; Haruo Mikami; Tatsuro Kondoh; Hiroshi Kitoh; Ryusuke Sugiyama; Nobuhiko Okamoto; Tsutomu Ogata; Riccardo Fodde; Seiji Mizuno; Kyoko Takamura; Masayuki Egashira; Nozomu Sasaki; Sachiro Watanabe; Shigeru Nishimaki; Fumlo Takada; Toshiro Nagai; Yasushi Okada; Yoshikazu Aoka; Kazushi Yasuda; Mitsuji Iwasa; Shigetoyo Kogaki; Naoki Harada; Takeshi Mizuguchi; Naomichi Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Aug. 2006, Peer-reviewed

  
• Congenital neuroblastoma in a patient with partial trisomy of 2p

  Y Dowa; T Yamamoto; Y Abe; M Kobayashi; R Hoshino; K Tanaka; N Aida; H Take; K Kato; Y Tanaka; J Ariyama; N Harada; N Matsumoto; K Kurosawa

  JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, Jun. 2006, Peer-reviewed

  
• No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

  N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; H Ohashi; K Kurosawa; K Naritomi; T Kaname; T Nagai; Shotelersuk, V; JW Hou; Y Fukushima; T Kondoh; T Matsumoto; T Shinoki; M Kato; H Tonoki; M Nomura; K Yoshiura; T Kishino; T Ohta; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Feb. 2006, Peer-reviewed

  
• A father and son with mental retardation, a characteristic face, Inv(12), and insertion trisomy 12p12.3-p11.2

  DS Liang; LQ Wu; Q Pan; N Harada; ZG Long; K Xia; K Yoshiura; HP Dai; N Niikawa; F Cai; JH Xia

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Feb. 2006, Peer-reviewed

  
• BAC array CGH reveals genomic aberrations in idiopathic mental retardation

  N Miyake; O Shimokawa; N Harada; N Sosonkina; A Okubo; H Kawara; N Okamoto; K Kurosawa; H Kawame; M Iwakoshi; T Kosho; Y Fukushima; Y Makita; Y Yokoyama; T Yamagata; M Kato; Y Hiraki; M Nomura; K Yoshiura; T Kishino; T Ohta; T Mizuguchi; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Feb. 2006, Peer-reviewed

  
• Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

  H Kawara; T Yamamoto; N Harada; K Yoshiura; N Niikawa; A Nishimura; T Mizuguchi; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Feb. 2006, Peer-reviewed

  
• A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

  T Yamamoto; H Ueda; M Kawataki; M Yamanaka; T Asou; Y Kondoh; N Harada; N Matsumoto; K Kurosawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jan. 2006, Peer-reviewed

  
• Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

  H Hamanoue; N Umezu; M Okuda; N Harada; T Ohata; H Sakai; T Mizuguchi; H Ishikawa; T Takahashi; K Miura; F Hirahara; N Matsumoto

  JOURNAL OF HUMAN GENETICS, 2006, Peer-reviewed

  
• Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

  S Miura; K Miura; H Masuzaki; N Miyake; K Yoshiura; N Sosonkina; N Harada; O Shimokawa; D Nakayama; S Yoshimura; N Matsumoto; N Niikawa; T Ishimaru

  JOURNAL OF HUMAN GENETICS, 2006, Peer-reviewed

  
• Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions

  R Visser; O Shimokawa; N Harada; N Niikawa; N Matsumoto

  JOURNAL OF MEDICAL GENETICS, Nov. 2005, Peer-reviewed

  
• Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome?

  S Takahira; T Kondoh; M Sumi; M Tagawa; M Obatake; E Kinoshita; O Shimokawa; N Harada; N Miyake; N Matsumoto; H Moriuchi

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Oct. 2005, Peer-reviewed

  
• Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

  N Kurotaki; JJ Shen; M Touyama; T Kondoh; R Visser; T Ozaki; J Nishimoto; T Shiihara; K Uetake; Y Makita; N Harada; S Raskin; CW Brown; P Hoglund; N Okamoto; Lupski, JR

  GENETICS IN MEDICINE, Sep. 2005, Peer-reviewed

  
• Chromosome 1q deletion and congenital glaucoma

  N Okamoto; Y Hatsukawa; J Shiraishi; N Harada; N Matsumoto

  PEDIATRICS INTERNATIONAL, Aug. 2005, Peer-reviewed

  
• Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

  O Shimokawa; N Miyake; T Yoshimura; N Sosonkina; N Harada; T Mizuguchi; S Kondoh; T Kishino; T Ohta; Remco, V; T Takashima; A Kinoshita; K Yoshiura; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jul. 2005, Peer-reviewed

  
• Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

  N Miyake; R Visser; A Kinoshita; K Yoshiura; N Niikawa; T Kondoh; N Matsumoto; N Harada; N Okamoto; T Sonoda; K Naritomi; T Kaname; Y Chinen; H Tonoki; K Kurosawa

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, May 2005, Peer-reviewed

  
• Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis

  T Kondoh; O Shimokawa; N Harada; T Doi; C Yun; Y Gohda; K Fumiko; T Matsumoto; H Moriuchi

  JOURNAL OF HUMAN GENETICS, 2005, Peer-reviewed

  
• Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion

  R Visser; O Shimokawa; N Harada; A Kinoshita; T Ohta; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF HUMAN GENETICS, Jan. 2005, Peer-reviewed

  
• Genotype-phenotype correlation of 5p- syndrome: Pitfall of diagnosis

  Tatsuro Kondoh; Osamu Shimokawa; Naoki Harada; Tomoki Doi; Chyuns Yun; Yuji Gohda; Fumiko Kinoshita; Tadashi Matsumoto; Hiroyuki Moriuchi

  Journal of Human Genetics, Jan. 2005, Peer-reviewed

  
• Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)

  K Kurosawa; N Harada; N Harada; N Sosonkina; N Niikawa; N Matsumoto; N Harada; N Sosonkina; N Niikawa; N Matsumoto; S Saitoh; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Oct. 2004, Peer-reviewed

  
• Heterozygous TGFBR2 mutations in Marfan syndrome

  T Mizuguchi; G Collod-Beroud; T Akiyama; M Abifadel; N Harada; T Morisaki; D Allard; M Varret; M Claustres; H Morisaki; M Ihara; A Kinoshita; K Yoshiura; C Junien; T Kajii; G Jondeau; T Ohta; T Kishino; Y Furukawa; Y Nakamura; N Niikawa; C Boileau; N Matsumoto

  NATURE GENETICS, Aug. 2004, Peer-reviewed

  
• Molecular characterization of inv dup del(8p): Analysis of five cases

  Osamu Shimokawa; Kenji Kurosawa; Tomoko Ida; Naoki Harada; Tatsuro Kondoh; Noriko Miyake; Kohichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto

  American Journal of Medical Genetics, 15 Jul. 2004, Peer-reviewed

  
• On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS [2]

  Noriko Miyake; Naoki Harada; Osamu Shimokawa; Hirofumi Ohashi; Kenji Kurosawa; Tadashi Matsumoto; Yoshimitsu Fukushima; Toshiro Nagai; Vorasuk Shotelersuk; Ko-Ichiro Yoshiura; Tohma Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto

  American Journal of Medical Genetics, 15 Jul. 2004, Peer-reviewed

  
• Molecular characterization of inv dup del(8p): Analysis of five cases

  O Shimokawa; K Kurosawa; T Ida; N Harada; T Kondoh; N Miyake; K Yoshiura; T Kishino; T Ohta; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jul. 2004, Peer-reviewed

  
• The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

  J Kamimura; K Wakui; H Kadowaki; Y Watanabe; K Miyake; N Harada; M Sakamoto; A Kinoshita; K Yoshiura; T Ohta; T Kishino; M Ishikawa; M Kasuga; Y Fukushima; N Niikawa; N Matsumoto

  JOURNAL OF HUMAN GENETICS, Jul. 2004, Peer-reviewed

  
• On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

  N Miyake; N Harada; O Shimokawa; H Ohashi; K Kurosawa; T Matsumoto; Y Fukushima; T Nagai; Shotelersuk, V; K Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jul. 2004, Peer-reviewed

  
• Phenotype-genotype correlation in two patients with 12q proximal deletion

  N Miyake; H Tonoki; M Gallego; N Harada; O Shimokawa; K Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  JOURNAL OF HUMAN GENETICS, May 2004, Peer-reviewed

  
• 9q34.3 Deletion Syndrome in Three Unrelated Children

  Mie Iwakoshi; Nobuhiko Okamoto; Naoki Harada; Tsuyoshi Nakamura; Shunji Yamamori; Hiroko Fujita; Norio Niikawa; Naomichi Matsumoto

  American Journal of Medical Genetics, 30 Apr. 2004, Peer-reviewed

  
• 9q34.3 deletion syndrome in three unrelated children

  M Iwakoshi; N Okamoto; N Harada; T Nakamura; S Yamamori; H Fujita; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Apr. 2004, Peer-reviewed

  
• Subtelomere specific microarray based comparative genomic hybridisation: A rapid detection system for cryptic rearrangements in idiopathic mental retardation

  N. Harada; E. Hatchwell; N. Okamoto; M. Tsukahara; K. Kurosawa; H. Kawame; T. Kondoh; H. Ohashi; R. Tsukino; Y. Kondoh; O. Shimokawa; T. Ida; T. Nagai; Y. Fukushima; K. Yoshiura; N. Niikawa; N. Matsumoto

  Journal of Medical Genetics, Feb. 2004, Peer-reviewed

  
• A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

  N Harada; R Visser; A Dawson; M Fukamachi; M Iwakoshi; N Okamoto; T Kishino; N Niikawa; N Matsumoto

  JOURNAL OF HUMAN GENETICS, 2004, Peer-reviewed

  
• The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 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, 2004, Peer-reviewed

  
• A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

  Naoki Harada; Remco Visser; Angie Dawson; Makoto Fukamachi; Mie Iwakoshi; Nobuhiko Okamoto; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto

  Journal of Human Genetics, 2004, Peer-reviewed

  
• Phenotype-genotype correlation in two patients with 12q proximal deletion

  Noriko Miyake; Hidefumi Tonoki; Marta Gallego; Naoki Harada; Osamu Shimokawa; Koh-Ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto

  Journal of Human Genetics, 2004, Peer-reviewed

  
• Identification of eight novel NSD1 mutations in Sotos syndrome.

  Kamimura J; Endo Y; Kurotaki N; Kinoshita A; Miyake N; Shimokawa O; Harada N; Visser R; Ohashi H; Miyakawa K; Gerritsen J; Innes AM; Lagace L; Frydman M; Okamoto N; Puttinger R; Raskin S; Resic B; Culic V; Yoshiura K; Ohta T; Kishino T; Ishikawa M; Niikawa N; Matsumoto N

  J. Med. Genet., Nov. 2003, Peer-reviewed

  
• Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion

  N Kurotaki; N Harada; O Shimokawa; N Miyake; H Kawame; K Uetake; Y Makita; T Kondoh; T Ogata; T Hasegawa; T Nagai; T Ozaki; M Touyama; R Shenhav; H Ohashi; L Medne; T Shiihara; S Ohtsu; Z Kato; N Okamoto; J Nishimoto; D Lev; Y Miyoshi; S Ishikiriyama; T Sonoda; S Sakazume; Y Fukushima; K Kurosawa; JF Cheng; K Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  HUMAN MUTATION, Nov. 2003, Peer-reviewed

  
• Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X

  T Ida; N Miharu; M Hayashitani; O Shimokawa; N Harada; O Samura; T Kubota; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Aug. 2003, Peer-reviewed

  
• Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

  H Sugawara; N Harada; T Ida; T Ishida; DH Ledbetter; KI Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  GENOMICS, Aug. 2003, Peer-reviewed

  
• Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X

  Tomoko Ida; Norio Miharu; Michiko Havashitani; Osamu Shimokawa; Naoki Harada; Osamu Samura; Takeo Kubota; Norio Niikawa; Naomichi Matsumoto

  American Journal of Medical Genetics, 01 Aug. 2003, Peer-reviewed

  
• Inv dup del(4) (: p14 -> p16.3 :: p16.3 -> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome

  Y Kondoh; T Toma; H Ohashi; N Harada; K Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Jul. 2003, Peer-reviewed

  
• Inv dup del(4) (:p14 → p16.3::p16.3 → qter) With manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome

  Yuki Kondoh; Takaya Toma; Hirofumi Ohashi; Naoki Harada; Ko-Ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto

  American Journal of Medical Genetics, 01 Jul. 2003, Peer-reviewed

  
• Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

  N Miyake; N Kurotaki; H Sugawara; O Shimokawa; N Harada; T Kondoh; M Tsukahara; S Ishikiriyama; T Sonoda; Y Miyoshi; S Sakazume; Y Fukushima; H Ohashi; T Nagai; H Kawame; K Kurosawa; M Touyama; T Shiihara; N Okamoto; J Nishimoto; K Yoshiura; T Ohta; T Kishino; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF HUMAN GENETICS, May 2003, Peer-reviewed

  
• Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

  T Nagai; N Matsumoto; N Kurotaki; N Harada; N Niikawa; T Ogata; K Imaizumi; K Kurosawa; T Kondoh; H Ohashi; M Tsukahara; Y Makita; T Sugimoto; T Sonoda; T Yokoyama; K Uetake; S Sakazume; Y Fukushima; K Naritomi

  JOURNAL OF MEDICAL GENETICS, Apr. 2003, Peer-reviewed

  
• Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate

  T Sonoda; K Kouno; K Sawada; J Takagi; H Nunoi; N Harada; N Matsumoto

  PEDIATRICS INTERNATIONAL, Feb. 2003, Peer-reviewed

  
• Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF1R?

  T Nagai; O Shimokawa; N Harada; S Sakazume; H Ohashi; N Matsumoto; K Obata; A Yoshino; N Murakami; T Murai; R Sakuta; N Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS, Nov. 2002, Peer-reviewed

  
• Duplication of 8p23.2: A benign cytogenetic variant?

  N Harada; J Takano; T Kondoh; H Ohashi; T Hasegawa; H Sugawara; T Ida; K Yoshiura; T Ohta; T Kishino; T Kajii; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS, Aug. 2002, Peer-reviewed

  
• Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X,idic(Y)/45,X

  K Nonomura; H Kakizaki; N Fukuzawa; K Fujieda; N Harada; N Niikawa; T Koyanagi

  ENDOCRINE JOURNAL, Aug. 2002, Peer-reviewed

  
• Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.

  H. Sugawara; M. Egashira; N. Harada; T. C. Jakobs; K. Yoshiura; T. Kishino; T. Ohta; N. Niikawa; N. Matsumoto

  Journal of medical genetics, 01 Jul. 2002

  
• Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.

  Sugawara H; Egashira M; Harada N; Jakobs TC; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N

  J. Med. Genet., Jul. 2002, Peer-reviewed

  
• Maternal Isodisomy for 14q21-q24 in a man with diabetes mellitus

  T Kayashima; M Katahira; N Harada; N Miwa; T Ohta; K Yoshiura; N Matsumoto; Y Nakane; Y Nakamura; T Kajii; N Niikawa; T Kishino

  AMERICAN JOURNAL OF MEDICAL GENETICS, Jul. 2002, Peer-reviewed

  
• Haploinsufficiency of NSD1 causes Sotos syndrome

  N Kurotaki; K Imaizumi; N Harada; M Masuno; T Kondoh; T Nagai; H Ohashi; K Naritomi; M Tsukahara; Y Makita; T Sugimoto; T Sonoda; T Hasegawa; Y Chinen; H Tomita; A Kinoshita; T Mizuguchi; K Yoshiura; T Ohta; T Kishino; Y Fukushima; N Niikawa; N Matsumoto

  NATURE GENETICS, Apr. 2002, Peer-reviewed

  
• Identification of de novo chromosome rearrangements: Five cases analyzed with differential chromosome painting

  T Ida; N Harada; K Abe; T Kondoh; M Yoshinaga; T Maki; N Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS, Mar. 2002, Peer-reviewed

  
• A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

  S Kondoh; H Sugawara; N Harada; N Matsumoto; H Ohashi; M Sato; PN Kantaputra; T Ogino; H Tomita; T Ohta; T Kishino; Y Fukushima; N Niikawa; K Yoshiura

  JOURNAL OF HUMAN GENETICS, 2002, Peer-reviewed

  
• Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene

  Naohiro Kurotaki; Naoki Harada; Koh-ichiro Yoshiura; Sumio Sugano; Norio Niikawa; Naomichi Matsumoto

  Gene, 28 Nov. 2001, Peer-reviewed

  
• Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature

  Shigeki Uehara; Kunihiko Hanew; Naoki Harada; Shunji Yamamori; Masayuki Nata; Norio Niikawa; Kunihiro Okamura

  American Journal of Medical Genetics, 15 Mar. 2001, Peer-reviewed

  
• Identification of proacrosin binding protein sp32 precursor as a human cancer/testis antigen

  Toshiro Ono; Takushi Kurashige; Naoki Harada; Yuji Noguchi; Takashi Saika; Norio Niikawa; Motoi Aoe; Shinichiro Nakamura; Toshihiro Higashi; Akio Hiraki; Hisashi Wada; Hiromi Kumon; Lloyd J. Old; Eiichi Nakayama

  Proceedings of the National Academy of Sciences of the United States of America, 13 Mar. 2001, Peer-reviewed

  
• Digynic triploid infant surviving for 46 days

  Tomonobu Hasegawa; Naoki Harada; Kazushige Ikeda; Tomohiro Ishii; Isamu Hokuto; Kenji Kasai; Mamoru Tanaka; Ryuji Fukuzawa; Norio Niikawa; Nobutake Matsuo

  American Journal of Medical Genetics, 1999, Peer-reviewed

  
• Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis

  M Higashino; N Harada; Hataya, I; N Nishimura; M Kato; N Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS, Jan. 1999, Peer-reviewed

  
• Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

  Naoki Harada; Kyohko Abe; Tomoko Nishimura; Kiminori Sasaki; Mutsuo Ishikawa; Masahiro Fujimoto; Tadashi Matsumoto; Norio Niikawa

  American Journal of Medical Genetics, 03 Feb. 1998, Peer-reviewed

  
• Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

  N Harada; K Abe; T Nishimura; K Sasaki; M Ishikawa; M Fujimoto; T Matsumoto; N Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS, Feb. 1998, Peer-reviewed

  
• Trisomy 13 trisomy 18 mosaicism in an infant

  K Abe; N Harada; T Itoh; O Hirakawa; N Niikawa

  CLINICAL GENETICS, Nov. 1996, Peer-reviewed

  
• A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy

  Tadashi Matsumoto; Tatsuro Kondoh; Hideaki Masuzaki; Naoki Harada; Tetsuo Matsusaka; Ei-ichi Kinoshita; Goh Takeo; Mitsuhiro Tsujihata; Yasuyuki Suzuki; Yoshiro Tsuji

  The Japanese Journal of Human Genetics, Sep. 1994, Peer-reviewed

  
• Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma

  Tadashi Matsumoto; Ei-ichi Kinoshita; Hidenori Maeda; Norio Niikawa; Nobuko Kurosaki; Naoki Harada; Kankatsu Yun; Tomoko Sawai; Shigeru Aoki; Tatsuro Kondoh; Yoshiro Tsuji

  The Japanese Journal of Human Genetics, Jun. 1994, Peer-reviewed

  
• CASE OF 46,XX/47,XY,+21 CHIMERISM IN A NEWBORN-INFANT WITH AMBIGUOUS GENITALIA

  T SAWAI; M YOSHIMOTO; E KINOSHITA; T BABA; T MATSUMOTO; Y TSUJI; S FUKUDA; N HARADA; N NIIKAWA

  AMERICAN JOURNAL OF MEDICAL GENETICS, Feb. 1994, Peer-reviewed

  
• Molecular and clinical study of 61 Angelman syndrome patients

  S. Saitoh; N. Harada; Y. Jinno; K. Hashimoto; K. Imaizumi; Y. Kuroki; Y. Fukushima; T. Sugimoto; M. Renedo; J. Wagstaff; M. Lalande; A. Mutirangura; A. Kuwano; D. H. Ledbetter; N. Niikawa

  American Journal of Medical Genetics, 1994, Peer-reviewed

  
• EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3)

  S. Akita; H. Kuratomi; K. Abe; N. Harada; N. Mukae; N. Niikawa

  Clinical Dysmorphology, 1993, Peer-reviewed

  
• Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence

  Masatake Yamauchi; Shin Nagata; Naohiko Seki; Yoshiro Toyama; Naoki Harada; Norio Niikawa; Ichiro Masuno; Tadashi Kajii; Tada‐aki Hori

  Clinical Genetics, 1993, Peer-reviewed

  
• Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome

  T. Tamura; T. Tohma; T. Ohta; H. Soejima; N. Harada; K. Abe; N. Niikawa

  Clinical Dysmorphology, 1993, Peer-reviewed

  
• A SIMPLE AND EFFICIENT AMPLIFICATION METHOD OF DNA WITH UNKNOWN SEQUENCES AND ITS APPLICATION TO MICRODISSECTION/MICROCLONING

  Y JINNO; N HARADA; K YOSHIURA; T OHTA; T TOHMA; T HIROTA; K TSUKAMOTO; HX DENG; M OSHIMURA; N NIIKAWA

  JOURNAL OF BIOCHEMISTRY, Jul. 1992, Peer-reviewed

  
• MICRODISSECTION OF HUMAN CHROMOSOMAL REGIONS 8Q23.3-Q24.11 AND 2Q33-QTER - CONSTRUCTION OF DNA LIBRARIES AND ISOLATION OF THEIR CLONES

  T HIROTA; K TSUKAMOTO; HX DENG; K YOSHIURA; T OHTA; T TOHMA; T KIBE; N HARADA; Y JINNO; N NIIKAWA

  GENOMICS, Jun. 1992, Peer-reviewed

  
• CHROMOSOME-BAND-SPECIFIC PAINTING - CHROMOSOME INSITU SUPPRESSION HYBRIDIZATION USING PCR PRODUCTS FROM A MICRODISSECTED CHROMOSOME BAND AS A PROBE POOL

  HX DENG; K YOSHIURA; RW DIRKS; N HARADA; T HIROTA; K TSUKAMOTO; Y JINNO; N NIIKAWA

  HUMAN GENETICS, Apr. 1992, Peer-reviewed

  
• MOLECULAR STUDY OF THE PRADER-WILLI SYNDROME - DELETION, RFLP, AND PHENOTYPE ANALYSES OF 50 PATIENTS

  J HAMABE; Y FUKUSHIMA; N HARADA; K ABE; N MATSUO; T NAGAI; A YOSHIOKA; H TONOKI; R TSUKINO; N NIIKAWA

  AMERICAN JOURNAL OF MEDICAL GENETICS, Oct. 1991, Peer-reviewed

  
• POSSIBLE MAPPING OF THE GENE FOR TRANSIENT MYELOPROLIFERATIVE SYNDROME AT 21Q11.2

  N NIIKAWA; HX DENG; K ABE; N HARADA; T OKADA; H TSUCHIYA; AKABOSHI, I; MATSUDA, I; Y FUKUSHIMA; Y KANEKO; A KUWANO; T KAJII

  HUMAN GENETICS, Sep. 1991, Peer-reviewed

  
• De novo interstitial deletion of 1p (pter→p34.1::p32.3→qter)

  M. Yoshino; Y. Watanabe; N. Harada; K. Abe

  Journal of Medical Genetics, 1991, Peer-reviewed

  
• Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment

  Kyohko Abe; Han-Xiang Deng; Naoki Harada; Koh-ichiro Yoshiura; Takahiko Oh-hira; Norio Nikawa

  The Japanese Journal of Human Genetics, Dec. 1990, Peer-reviewed

  
• MONOSOMY FOR 21PTER-Q21 - CASE-REPORT AND ASSIGNMENT OF A DNA CLONE (FR8-77) TO THE DELETED SEGMENT

  K ABE; HX DENG; N HARADA; K YOSHIURA; T OHHIRA; N NIIKAWA

  JAPANESE JOURNAL OF HUMAN GENETICS, Dec. 1990, Peer-reviewed

  
• Satellited chromosome 9 in a boy with multiple anomalies

  Naoki Harada; Kyohko Abe; Tatsuro Kondoh; Tetsuya Hirota; Norio Niikawa

  The Japanese Journal of Human Genetics, Dec. 1989, Peer-reviewed

  
• SATELLITED CHROMOSOME-9 IN A BOY WITH MULTIPLE ANOMALIES

  N HARADA; K ABE; T KONDOH; T HIROTA; N NIIKAWA

  JAPANESE JOURNAL OF HUMAN GENETICS, Dec. 1989, Peer-reviewed

  
• WAARDENBURG SYNDROME TYPE-I IN A CHILD WITH DENOVO INVERSION (2)(Q35Q37.3)

  S ISHIKIRIYAMA; H TONOKI; Y SHIBUYA; S CHIN; N HARADA; K ABE; N NIIKAWA

  AMERICAN JOURNAL OF MEDICAL GENETICS, Aug. 1989, Peer-reviewed

  
• A molecular deletion study with southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11-12 and on an atypical PWS patient with apparently normal karyotype

  Tsutomu Kamei; Jun-ichi Hamabe; Tadashi Matsumoto; Kyohko Abe; Naoki Harada; Satoshi Ishikiriyama; Tomoko Hasegawa; Kiyoshi Miyazaki; Seiji Mizuno; Kouji Narahara; Shigenori Yukizane; Norio Niikawa

  The Japanese Journal of Human Genetics, Dec. 1988, Peer-reviewed

  
• A MOLECULAR DELETION STUDY WITH SOUTHERN HYBRIDIZATION ON TYPICAL PRADER-WILLI SYNDROME (PWS) PATIENTS WITH VARIOUS CHROMOSOME-ABNORMALITIES INVOLVING 15Q11-12 AND ON AN ATYPICAL PWS PATIENT WITH APPARENTLY NORMAL KARYOTYPE

  T KAMEI; J HAMABE; T MATSUMOTO; K ABE; N HARADA; S ISHIKIRIYAMA; T HASEGAWA; K MIYAZAKI; S MIZUNO; K NARAHARA; S YUKIZANE; N NIIKAWA

  JAPANESE JOURNAL OF HUMAN GENETICS, Dec. 1988, Peer-reviewed

  

Misc.

• 保険収載されたマイクロアレイ染色体検査

  原田直樹

  遺伝子医学, Apr. 2023, Invited, Lead author, Corresponding author

  
• 難病領域の遺伝学的検査体制に関するアンケート調査

  足立香織; 佐藤万仁; 小原收; 堤正好; 宮地勇人; 中山智祥; 古庄知己; 要匡; 原田直樹; 奥山虎之; 後藤雄一; 黒澤健司; 難波栄二

  日本小児遺伝学会学術集会プログラム・抄録集, 2021

  
• 「難病領域の診療における遺伝学的検査の指針」の策定について

  難波栄二; 小原收; 堤正好; 宮地勇人; 中山智祥; 古庄知己; 要匡; 原田直樹; 足立香織; 佐藤万仁; 奥山虎之; 後藤雄一; 黒澤健司; 福嶋義光; 涌井敬子

  日本人類遺伝学会大会プログラム・抄録集, 2021

  
• KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME - A STUDY OF 62 PATIENTS

  N NIIKAWA; Y KUROKI; T KAJII; N MATSUURA; S ISHIKIRIYAMA; H TONOKI; N ISHIKAWA; Y YAMADA; M FUJITA; H UMEMOTO; Y IWAMA; KONDOH, I; Y FUKUSHIMA; Y NAKO; MATSUI, I; T URAKAMI; S ARITAKI; M HARA; Y SUZUKI; H CHYO; Y SUGIO; T HASEGAWA; T YAMANAKA; R TSUKINO; A YOSHIDA; N NOMOTO; S KAWAHITO; R AIHARA; S TOYOTA; A LESHIMA; H FUNAKI; K ISHITOBI; S OGURA; T FURUMAE; M YOSHINO; Y TSUJI; T KONDOH; T MATSUMOTO; K ABE; N HARADA; T MIIKE; S OHDO; K NARITOMI; AK ABUSHWEREB; OH BRAUN; E SCHMID

  AMERICAN JOURNAL OF MEDICAL GENETICS, Nov. 1988

  
• 染色体検査 出生前診断（産科領域）

  原田直樹; 涌井敬子

  日本医師会雑誌 臨床検査を使いこなす, Jun. 2021, Invited, Lead author

  
• 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 臨床検査を使いこなす, Jun. 2021, Invited

  
• 希少遺伝性疾患の遺伝学的検査の現状

  原田 直樹; 小原 收; 要 匡; 古庄 知己; 涌井 敬子; 足立 香織; 難波 栄二

  日本遺伝カウンセリング学会誌, Jul. 2019

  
• 分染法による染色体検査

  江口 真希; 原田 直樹

  遺伝子医学, Oct. 2018, Last author

  
• 拡がるゲノム医療 再生医療領域におけるiPS細胞のゲノム解析

  原田直樹

  医学のあゆみ, 02 Aug. 2014

  
• 過剰マーカー染色体の存在からcat eye syndromeと診断した小眼球症の1例

  守谷充司; 飯倉立夏; 矢尾板全子; 井泉瑠美子; 菅野潤子; 新堀哲也; 青木洋子; 原田直樹; 松原洋一

  日本小児科学会雑誌, 01 Mar. 2014

  
• 遺伝学的検査の実施拠点の在り方に関する研究 細胞遺伝学的検査の提供体制の研究

  福嶋義光; 大橋博文; 清水健司; 倉橋浩樹; 黒澤健司; 小崎健次郎; 小崎里華; 後藤雄一; 井上健; 原田直樹; 山本俊至; 涌井敬子

  遺伝学的検査の実施拠点の在り方に関する研究 平成25年度 総括研究報告書, 2014

  
• FISH法により出生前診断したWolf‐Hirschhorn症候群の一例

  三春範夫; 皆川詩織; 山本弥寿子; 正路貴代; 浦山彩子; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2013

  
• 5q33.3‐q34のtriplication及び5q34‐qterの片親性アイソダイソミーを認めた一症例

  藤田京志; 鈴村宏; 原田直樹; 松本直通; 三宅紀子

  日本人類遺伝学会大会プログラム・抄録集, 2013

  
• 超細密染色体分析から捉え直すヒト発達障害研究 16番染色体短腕のゲノムコピー数増加と自閉症

  岡本伸彦; 大町和美; 山本悠斗; 井上佳世; 三島祐子; 齋藤和正; 松井健; 原田直樹

  超細密染色体分析から捉え直すヒト発達障害研究 平成24年度 総括・分担研究報告書, 2013

  
• 染色体検査 マイクロアレイ染色体検査

  原田直樹

  アニムス, 01 Jul. 2012

  
• 過剰リング7番染色体モザイク例における出生前診断と遺伝カウンセリング

  佐々木由喜; 松井健; 齋藤和正; 霜川修; 矢野一美; 江口真希; 原田直樹; 三春範夫

  日本遺伝カウンセリング学会誌, 10 May 2012

  
• 16番染色体短腕のゲノムコピー数異常の3例

  岡本伸彦; 山本悠斗; 大町和美; 齋藤和正; 松井健; 原田直樹; 三宅紀子; 松本直通

  日本小児遺伝学会学術集会プログラム・抄録集, 31 Mar. 2012

  
• マイクロアレイ染色体検査の現状

  原田直樹

  臨床細胞遺伝学セミナー・テキスト, Aug. 2011

  
• Axenfeld‐Rieger症候群3例のゲノム病変の解析と本症の臨床的異質性に関する検討

  外木秀文; 奥原宏治; 高橋伸浩; 宮卓也; 小籏菜穂; 大橋宏史; 工藤京平; 鈴木雅彦; 飯塚進; 原田直樹; 霜川修; 小崎里華; 佐藤敦志; 佐藤孝平

  日本小児科学会雑誌, 01 Jun. 2011

  
• アレイ染色体検査の臨床応用に向けた課題

  原田直樹; 松井健; 齋藤和正; 霜川修; 吉浦孝一郎; 松本直通; 近藤達郎

  日本遺伝カウンセリング学会誌, 02 May 2011

  
• 羊水検査で検出した8p23.2と9q13‐q21重複に関する考察

  佐々木由喜; 霜川修; 松井健; 古郷有佳子; 上塘正人; 原田直樹

  日本遺伝カウンセリング学会誌, 02 May 2011

  
• 羊水検査で遺伝カウンセリングに難渋したモザイクの1症例

  三春範夫; 原田直樹; 佐川麻衣子; 小出千絵; 松岡直樹; 豊福彩; 長谷川康貴

  日本人類遺伝学会大会プログラム・抄録集, 2011

  
• SNPアレイ染色体検査の臨床応用に向けた取り組み

  齋藤和正; 松井健; 霜川修; 中山光二; 細貝昇; 関島勝; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2011

  
• 受精後転座による両親由来の派生Xの形成とXXYレスキューの考察

  坂爪悟; 原田直樹; 城戸康宏; 大橋博文; 佐藤秀則; 江見充; 永井敏郎; 久保田健夫

  日本人類遺伝学会大会プログラム・抄録集, 2011

  
• 5q31.3欠失症候群は新規の染色体微細欠失症候群である

  細木華奈; 太田亨; 夏目淳; 今井純好; 奥村彰久; 松井健; 原田直樹; SCAGLIA Fernando; BACINO Carlos; 新井詔夫; 齋藤伸治

  日本人類遺伝学会大会プログラム・抄録集, 2011

  
• アレイ染色体検査で同定したJoubert症候群の一例

  松井健; 齋藤和正; 近藤達郎; 木下晃; 吉浦孝一郎; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2011

  
• 遺伝医学領域におけるゲノムコピー数解析の現状

  原田直樹

  日本遺伝カウンセリング学会誌, 31 Dec. 2010

  
• インプリンティングと細胞特異的クロマチン脱凝集

  木住野達也; 齋藤和正; 霜川修; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 08 Oct. 2010

  
• X;15染色体転座例におけるX染色体不活化の常染色体波及領域と転座の発生機転

  坂爪悟; 大橋博文; 佐々木由喜; 原田直樹; 相馬良一; 遠藤和志; 佐藤秀則; 中西克美; 江見充; 永井敏郎; 久保田健夫

  日本人類遺伝学会大会プログラム・抄録集, 08 Oct. 2010

  
• 全サブテロメアFISHとゲノムコピー数解析で20年ぶりに診断された6番染色体複雑構造異常の1例

  岡本陽子; 管原由恵; 三村博子; 立花久大; 千代豪昭; 細貝昇; 高木王彦; 霜川修; 佐々木由喜; 原田直樹; 玉置知子

  日本人類遺伝学会大会プログラム・抄録集, 08 Oct. 2010

  
• upd(5)matを認めたNetherton症候群の一例

  秋丸憲子; 松田圭子; 竹村豊; 和田紀久; 松井豊; 原田直樹; 岡本伸彦

  日本人類遺伝学会大会プログラム・抄録集, 08 Oct. 2010

  
• 染色体検査とCytogenetic Array解析

  原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 08 Oct. 2010

  
• Multiplex Ligation‐dependent Probe Amplification(MLPA)法による胎児異数性染色体異常のスクリーニング検査の検討

  原田直樹; 齋藤和正; 松井健; 霜川修; 佐々木由喜; 細貝昇; 松山敏剛; 小川昌宣; 坂井和裕

  日本遺伝カウンセリング学会誌, 20 Apr. 2010

  
• 遺伝学的検査としての染色体検査ガイドライン(2006.10.17)

  小杉眞司; 福嶋義光; 池内達郎; 稲澤譲治; 大橋博文; 黒澤健司; 原田直樹; 涌井敬子

  臨床細胞遺伝学セミナー・テキスト, Aug. 2009

  
• Axenfeld‐Rieger anomaly患児の分子細胞遺伝学的解析

  伊藤智城; 脇口定衞; 奥原宏治; 高橋伸浩; 外木秀文; 古賀康嗣; 工藤夏美; 新保輝味; 原田直樹

  日本小児科学会雑誌, 01 Jun. 2009

  
• 出生前染色体検査の現状と今後の方向性

  原田直樹

  日本遺伝カウンセリング学会誌, 20 Apr. 2009

  
• 羊水検査で検出した新生均衡型相互転座に合併する分子欠失の同定

  原田直樹; 松井健; 霜川修; 古庄知己; 大平哲史; 福嶋義光

  日本遺伝カウンセリング学会誌, 20 Apr. 2009

  
• 羊水染色体検査における問題点―検査の立場から―

  佐々木由喜; 霜川修; 原田直樹; 近藤達郎; 新川詔夫

  北海道医学雑誌, 01 Mar. 2009

  
• アレイCGHによる詳細なゲノム解析が有用であったダウン症候群女児の1例

  佐藤大介; 外木秀文; 高橋伸浩; 川良洋城; 霜川修; 原田直樹; 有賀正; 新川詔夫

  北海道医学雑誌, 01 Mar. 2009

  
• 羊水検査で検出した2番染色体長腕逆位重複の1例

  松井健; 堀越嗣博; 川目裕; 霜川修; 佐々木由喜; 松本直通; 吉浦孝一郎; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• 6番染色体部分片親性ダイソミーを認めた3M症候群の1例

  佐々木健作; 岡本伸彦; 小崎健次郎; 川良洋城; 吉浦孝一郎; 松本直通; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• アレイ染色体検査のための健常人CNVデータベース構築の試み

  松井健; 霜川修; 齋藤和正; 吉浦孝一郎; 新川詔夫; 松本直通; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• Axenfeld‐Rieger症候群3例のゲノム病変の検討と同疾患の遺伝学的多様性に対応した臨床所見の特徴の検討

  外木秀文; 奥原宏治; 高橋伸浩; 飯塚進; 原田直樹; 霜川修; 佐藤敦志; 松本直通; 佐藤孝平; 小崎里華

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• 妊娠産物染色体検査

  原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• ZIC1とZIC4の欠失によるDandy‐Walker奇形の1例

  遠山潤; 加藤光広; 川崎砂里; 赤坂紀幸; 大橋伯; 小林悠; 川良洋城; 松井健; 原田直樹; 松本直通

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• 裂足と聴覚障害を呈する患者に認められた7q21.3領域の染色体構造異常

  才津浩智; 黒澤健司; 川良洋城; 江口真希; 水口剛; 原田直樹; 要匡; 鹿野博亀; 三宅紀子; 戸田達史; 松本直通

  日本人類遺伝学会大会プログラム・抄録集, 2009

  
• CUL7遺伝子異常を同定した3‐M症候群の1例

  岡本伸彦; 上谷良行; 依藤亨; 原田直樹; 松本直通; 小崎健次郎

  Pharma Med, 10 Sep. 2008

  
• 出生前染色体検査(分析基準と考え方)

  原田直樹

  臨床細胞遺伝学セミナー・テキスト, Aug. 2008

  
• マイクロアレイを使用した全ゲノムコピー数解析による出生前診断の試み

  原田直樹; 佐々木健作; 霜川修; 川良洋城; 冨士山龍伊; 近藤達郎; 夫律子; 松本直通; 吉浦孝一郎; 新川詔夫

  日本遺伝カウンセリング学会誌, 18 Apr. 2008

  
• 当施設における過去5年間の羊水検査適応の推移

  原田直樹; 佐々木由喜; 江口真希; 近藤達郎

  日本遺伝カウンセリング学会誌, 18 Apr. 2008

  
• The Current Status of Prenatal Chromosome Testing of Amniotic Fluid Cells-From Experiences in Our Laboratory

  SASAKI YUKI; EGUCHI MAKI; KONDO TATSURO; HARADA NAOKI

  日本遺伝カウンセリング学会誌, 28 Mar. 2008

  
• 羊水検査で検出した稀な9q近位部重複異形を有する3家系

  霜川修; 佐々木健作; 坂井和裕; 長田久夫; 佐久本薫; 近藤達郎; 松本直通; 吉浦孝一郎; 新川詔夫; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2008

  
• マイクロアレイを使用した全ゲノムコピー数解析による染色体検査の有用性と問題点

  原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2008

  
• 完全ゲノムタイリングアレーを用いたゲノム病解析研究 全ゲノム増幅によるアレイ解析試料の調整

  原田直樹

  完全ゲノムタイリングアレーを用いたゲノム病解析研究 平成19年度 総括研究報告書, 2008

  
• 7q21転座を有する裂足患者のゲノム解析

  才津浩智; 黒澤健司; 川良洋城; 水口剛; 原田直樹; 要匡; 鹿野博亀; 戸田達史; 松本直通

  日本先天異常学会学術集会プログラム・抄録集, 2008

  
• 大耳,言語発達遅延を呈し相互転座切断点に微細欠失を認めた1例

  国場英雄; 森内浩幸; 吉浦孝一郎; 新川詔夫; 大村奈緒美; 森内美由紀; 佐々木健作; 原田直樹; 近藤達郎

  日本小児科学会雑誌, 01 Nov. 2007

  
• 当社における未培養羊水細胞を用いたFISH法による異数性染色体異常スクリーニング検査の現状

  江口真希; 原田直樹; 井田知子; 佐々木由喜; 下川修; 矢野一美; 川良洋城; 大村奈緒美; 森内美由紀; 佐々木健作; 二瓶温子; 阿部京子

  北海道医学雑誌, 01 Sep. 2007

  
• 羊水染色体検査における問題点―検査の立場から―

  原田直樹; 佐々木由喜; 霜川修; 井田知子; 近藤達郎; 新川詔夫

  日本遺伝カウンセリング学会誌, 24 Apr. 2007

  
• インターフェーズFISH法(13,18,21,X,Y)にて正常と判定されたが染色体異常を認めた子宮内胎児発育不全例の遺伝カウンセリング

  齊藤優子; 三村博子; 霞弘之; 澤井英明; 小森慎二; 香山浩二; 高橋千晶; 振津かつみ; 原田直樹; 玉置知子

  日本遺伝カウンセリング学会誌, 24 Apr. 2007

  
• 親の染色体構造異常に起因する不育症例への遺伝カウンセリング

  霞弘之; 管原由恵; 三村博子; 小森慎二; 玉置知子; 原田直樹; 澤井英明; 武信尚史; 田中宏幸; 斉藤優子; 香山浩二

  日本遺伝カウンセリング学会誌, 24 Apr. 2007

  
• 完全ゲノムタイリングアレーを用いたゲノム病解析研究 マイクロアレーCGH検証法に関する研究

  原田直樹

  完全ゲノムタイリングアレーを用いたゲノム病解析研究 平成18年度 総括研究報告書, 2007

  
• Axenfeld‐Rieger奇形とAxenfeld‐Rieger症候群:6p25の構造異常を持つ2症例の検討

  外木秀文; 川良洋城; 原田直樹; 小崎里華; 佐藤孝平; 新保輝味; 工藤夏美; 松本直通

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• 未培養羊水の全ゲノム増幅による出生前診断の試み

  佐々木健作; 霜川修; 川良洋城; 国場英雄; 近藤達郎; 夫律子; 本多啓輔; 松本直通; 吉浦孝一郎; 新川詔夫; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• 逆位により不育症となった2症例の遺伝カウンセリング

  霞弘之; 管原由恵; 三村博子; 堀内功; 小森慎二; 玉置知子; 原田直樹; 澤井英明; 齋藤優子; 田中宏幸; 香山浩二

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• t(1;3)(p13;q25)相互転座切断点に微細欠失を認めた精神遅滞児の1例

  大村奈緒美; 森内美由紀; 佐々木健作; 国場英雄; 国場英雄; 近藤達郎; 松本直通; 吉浦孝一郎; 新川詔夫; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• 母由来重複に起因する11p15部分トリソミーの1例

  霜川修; 夫律子; 副島英伸; 佐々木健作; 近藤達郎; 松本直通; 吉浦孝一郎; 新川詔夫; 原田直樹

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• 歌舞伎メーキャップ症候群の染色体転座・微細欠失内の候補遺伝子解析

  国場英雄; 霜川修; LIANG Desheng; XIA Jiahui; 木下晃; 吉浦孝一郎; 原田直樹; 近藤達郎; 大橋博文; 黒澤健司; 福嶋義光; 成富研二; 新川詔夫

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• マイクロアレイCGHにより検出された2q37.3モノソミーの分子細胞遺伝学的解析

  水口剛; 平木洋子; 霜川修; 原田直樹; 三宅紀子

  日本人類遺伝学会大会プログラム・抄録集, 2007

  
• 当施設における未培養羊水細胞を用いたFISH法による異数性染色体異常スクリーニング検査の現状

  原田直樹; 井田知子; 近藤由喜; 霜川修; 矢野一美; 江口真希; 川良洋城; 大村奈緒美; 森内美由紀; 阿部京子

  日本遺伝カウンセリング学会誌, 30 Apr. 2006

  
• 当施設における羊水染色体検査の現状

  近藤由喜; 江口真希; 霜川修; 矢野一美; 川良洋城; 原田直樹; 阿部京子

  北海道医学雑誌, 01 Mar. 2006

  
• そこが知りたい 小児臨床検査のポイント XVI.染色体・遺伝子検査 染色体FISH法

  原田直樹; 新川詔夫

  小児内科, 30 Nov. 2005

  
• A dup(13)(q31.2-qter)without abnormalities of hands or feet

  SONODA Tohru; KOIZUMI Hirohiko; KUBO Naomi; TAKAGI Junichi; HARADA Naoki; MATSUMOTO Naomichi

  Journal of Kyushu University of Health and Welfare, 25 Mar. 2005

  
• 5p^-症候群(猫なき症候群)の細胞遺伝学的検査と臨床症状との関連性

  近藤達郎; 土井知己; いん忠秀; 合田裕治; 森内浩幸; 霜川修; 原田直樹

  日本小児科学会雑誌, 01 Nov. 2004

  
• NSD1 - deleted Sotos syndrome patients with delayed bone age. is the advanced bone age essential for Sotos syndrome?

  T Doi; T Kondoh; E Kinoshita; T Matsumoto; M Hara; S Oka; N Kurotaki; N Harada; N Matsumoto; N Niikawa; H Moriuchi

  AMERICAN JOURNAL OF HUMAN GENETICS, Nov. 2003

  
• A new genomic disorder mediated by low-copy repeats? Fifty microdeletions identified in 112 patients with Sotos syndrome.

  N Kurotaki; N Harada; JF Cheng; Lupski, JR; N Matsumoto

  AMERICAN JOURNAL OF HUMAN GENETICS, Nov. 2003

  
• 9q34.3 terminal deletion in three unrelated patients: A new MCA/MR syndrome

  N Matsumoto; M Iwakoshi; N Okamoto; N Harada; T Nakamura; S Yamamori; H Fujita; N Niikawa

  AMERICAN JOURNAL OF HUMAN GENETICS, Nov. 2003

  
• A 4-Mb critical region for intrauterine growth retardation at 15q26

  N Harada; O Shimokawa; T Nagai; R Kato; T Kondoh; N Niikawa; N Matsumoto

  CLINICAL GENETICS, Oct. 2002

  
• Sotos syndrome is cased by haploinsufficiency of the NSD1 gene.

  N Kurotaki; N Harada; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF HUMAN GENETICS, Oct. 2002

  
• A 4q21-q22 deletion in a girl with severe growth retardation

  N Harada; T Nagai; O Shimokawa; N Niikawa; N Matsumoto

  CLINICAL GENETICS, Mar. 2002

  
• Congenital glaucoma and silver-russell phenotype associated with partial trisomy 7q and monosomy 15q

  R Kato; J Kishibayashi; O Shimokawa; N Harada; N Niikawa; N Matsumoto

  AMERICAN JOURNAL OF MEDICAL GENETICS, Dec. 2001

  
• Maturity onset diabetes mellitus in a patient with maternal uniparental disomy for chromosome 14.

  T Kayashima; M Katahira; N Harada; N Miwa; T Kishino; Y Nakamura; T Kajii; N Niikawa

  AMERICAN JOURNAL OF HUMAN GENETICS, Oct. 2001

  
• Inverted low copy repeats and a common 8p23 inversion polymorphism.

  N Matsumoto; N Harada; S Giglio; K Kuroiwa; DH Ledbetter; N Niikawa

  AMERICAN JOURNAL OF HUMAN GENETICS, Oct. 2001

  
• Clinical manifestations of Coffin-Lowry syndrome associated with de novo 8p23 duplication.

  T Kondoh; J Takano; H Sugawara; T Ida; N Harada; T Matsumoto; N Matsumoto; N Niikawa

  AMERICAN JOURNAL OF HUMAN GENETICS, Oct. 2001

  
• 生児を得た胎児共存全胞状奇胎の1例

  野坂啓介; 木口一成; 池田敏郎; 原田直樹; 谷内良成; 松尾健志; 近藤俊彦; 永田行博; 宮地由布子

  日本産科婦人科学会関東連合地方部会会報, 01 May 2000

  
• Multiplex‐FISH法を用いたde novo染色体構造異常の同定

  西村知子; 原田直樹; 阿部京子; 近藤達郎; 吉永宗義; 牧隆司; 新川詔夫

  日本人類遺伝学会大会プログラム・抄録集, 17 Nov. 1999

  
• 胎盤組織に限定したモザイクトリソミー2[CPM+2]の出生前診断

  原田直樹; 阿部京子; 斎藤仲道; 藤下敏; 新川詔夫

  日本人類遺伝学会大会プログラム・抄録集, 17 Nov. 1999

  
• Prenatal diagnosis for congenital metabolic diseases and the problems.

  HARADA NAOKI; YOSHINO MAKOTO; TOKUNAGA YASUYUKI; YOSHIDA ICHIRO; IGUCHI TAKAHIRO; MURAKAMI HIROKO; KUWANO SATOSHI; KOGA YASUTOSHI; AKITA YUKIHIRO

  周産期医学, 10 Sep. 1999

  
• Origin and Mechanism of Formation of Multiple Pregnancies Consisting of Complete Hydatidiform Mole and Fetus(es): Three Cases with CA Repeat Polymorphsms.

  HARADA NAOKI; ABE KYOKO; HIGASHINO MASAHIKO; HATAYA ISAO; KASHIMURA YOSHIKO; IKEDA TOSHIRO; USHIGAKI YUMIKO; NAGATA YUKIHIRO; NIIKAWA NORIO

  臨床検査, Aug. 1998

  
• Identification of Aneuploids in Uncultured Amniotic Fluid Cells by Interphase Fluorescence In Situ Hybridization.

  SODA MASAKAZU; HARADA NAOKI; NISHIMURA TOMOKO; NODA KAZUO; ABE KYOKO; NIIKAWA NORIO

  臨床病理, May 1998

  
• Trisomy 13 syndrome(Patau syndrome), trisomy 18 syndrome(Edwards syndrome), Down syndrome(trisomy 21 syndrome), Turner syndrome(XO gonadal dysgenesis).

  HARADA NAOKI; NIIKAWA AKIO

  日本臨床, Dec. 1996

  
• Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting

  KEFD Coelho; M Egashira; R Kato; M Fujimoto; N Matsumoto; B Rerkamnuaychoke; K Abe; N Harada; H Ohashi; Y Fukushima; N Niikawa

  AMERICAN JOURNAL OF MEDICAL GENETICS, Jun. 1996

  
• DNA-BASED PRENATAL CARRIER DETECTION FOR GROUP-A XERODERMA-PIGMENTOSUM IN A CHORIONIC VILLUS SAMPLE

  N MATSUMOTO; N SAITO; N HARADA; K TANAKA; N NIIKAWA

  PRENATAL DIAGNOSIS, Jul. 1995

  
• A case of chi46,XX/47, XY and +21 presenting sex differentiation abnormality.

  SAWAI TOMOKO; KINOSHITA EIICHI; BABA TSUNEYOSHI; MATSUMOTO TADASHI; FUKUDA SHINPEI; YOSHIMOTO MASAAKI; HARADA NAOKI; TSUJI YOSHIRO

  ホルモンと臨床, Mar. 1994

  
• A case with mos45,X/46, X,dic(Xq)/47, X,dic(Xq) and dix(Xq) complicated Kabuki make-up syndrome in Turner syndrome.Consideration on relevance of disease.

  YOSHIMOTO MASAAKI; SAWAI TOMOKO; MORI RYOGO; KINOSHITA EIICHI; BABA TSUNEAKI; MATSUMOTO TADASHI; HARADA NAOKI; TSUJI YOSHIRO

  ホルモンと臨床, Mar. 1994

  
• 目で見る遺伝病 キメラ体

  沢井知子; 木下英一; 馬場常嘉; 松本正; 吉本雅昭; 福田晋平; 原田直樹; 新川詔夫

  薬の知識, Jan. 1994

  
• Mechanism of occurrence of transient abnormal myelopoiesis and the putative gene locus.

  ABE KYOKO; HARADA NAOKI; NIIKAWA NORIO; DENG H-X

  原子爆弾後障害研究会特集号, Mar. 1992

  
• CHROMOSOME BAND-SPECIFIC PAINTING - FLUORESCENCE INSITU HYBRIDIZATION (FISH) USING DNAS FROM DISSECTED DEFINED CHROMOSOME REGION

  K YOSHIURA; HX DENG; RW DIRKS; N HARADA; Y JINNO; N NIIKAWA

  AMERICAN JOURNAL OF HUMAN GENETICS, Oct. 1991

  
• XY TRANSLOCATION IN A BOY WITH ICHTHYOSIS, HYPOGONADISM, SHORT STATURE AND MENTAL-RETARDATION

  T MATSUMOTO; K TAKU; T MIIKE; N HARADA; N NIIKAWA

  CLINICAL GENETICS, Feb. 1991

  
• GENOMIC DNA SEGMENTS OBTAINED FROM 8Q24.1 BY MICRODISSECTION

  N NIIKAWA; Y JINNO; T HIROTA; K TSUKAMOTO; HX DENG; N HARADA; K YOSHIURA

  CYTOGENETICS AND CELL GENETICS, 1991

  
• GENOMIC DNA CLONES FROM DISSECTED DEFINED REGIONS, 2Q33-QTER

  N NIIKAWA; K TSUKAMOTO; HX DENG; K YOSHIURA; T HIROTA; N HARADA; Y JINNO

  CYTOGENETICS AND CELL GENETICS, 1991

  
• The newest knowledges of clinical and labolatory test in pediatrics. Birth defects.

  NIIKAWA NORIO; HIROTA TETSUYA; HARADA NAOKI

  小児科臨床, Aug. 1989

  
• A SPORADIC CASE OF WAARDENBURG SYNDROME TYPE-I ASSOCIATED WITH DENOVO INV(2)(Q35Q37.3)

  S ISHIKIRIYAMA; H TONOKI; Y SHIBUYA; S CHIN; N HARADA; K ABE; N NIIKAWA

  CYTOGENETICS AND CELL GENETICS, 1989

  

Presentations

• マイクロアレイ染色体検査の結果解釈

  原田直樹

  第22回臨床遺伝情報検索講習会, Invited

  
• Clinical Cytogenetics

  Naoki Harada

  日本人類遺伝学会第67回大会, 15 Dec. 2022, Invited

  
• 医療者のマイクロアレイ染色体検査実践ポイント

  原田直樹

  出生前から小児期にわたるゲノム医療フォーラム, 16 Oct. 2022, Invited

  
• マイクロアレイ染色体検査の実践法

  原田直樹

  鳥取大学医学部附属病院遺伝子診療科 ＩＲＵＤ 未診断イニシアチブ勉強会, 09 Jul. 2022, Invited

  
• 遺伝学的検査の品質課題と解決案について

  原田直樹

  第50回臨床細胞分子遺伝研究会学術集会, 06 Mar. 2021

  
• 突然変異と遺伝性疾患 〜iPS細胞を利用した治療戦略〜

  原田直樹

  北海道医療大学個体差研究所セミナー 札幌市立開成中等教育学校特別講義, 09 Jan. 2021

  
• A Practical Guidance for the Development and Operation of Laboratory Developped NGS-based Gene Panel Genetic Testing．

  Harada N; Ohara O; Kaname T; Tsutsumi M; Adachi K; Nanba E

  日本人類遺伝学会第65回大会（2020年）

  
• 自家開発のNGSパネル遺伝学的検査の品質要件

  原田直樹; 小原 収; 要 匡; 堤 正好; 足立香織; 難波栄二

  第27回日本遺伝子診療学会大会（2020年）

  
• 次世代シークエンサーを使用する遺伝学的検査の品質課題への対応策

  原田直樹; 小原收; 要匡; 堤正好; 足立香織; 難波栄二

  第44回遺伝カウンセリング学会学術集会, 03 Jul. 2020

  
• 指定難病の検査体制に関するアンケート調査

  難波栄二; 足立香織; 佐藤万仁; 小原收; 宮地勇人; 中山智祥; 古庄知己; 原田直樹; 奥山虎之; 後藤雄一

  第44回遺伝カウンセリング学会学術集会, 03 Jul. 2020

  
• 希少難病等の遺伝学的検査の現状と課題

  原田直樹; 小原收; 要匡; 古庄知己; 涌井敬子; 足立香織; 難波栄二

  日本人類遺伝学会第64回大会, 08 Nov. 2019

  
• 再生医療用iPS細胞の品質および細胞治療製品の非臨床試験の課題

  原田 直樹

  鳥取大学生命機能研究センター講演会, 21 Apr. 2017, Invited

  
• ゲノム医療の実践に向けて備えておきたいこと

  原田 直樹

  2016年度第1回認定遺伝カウンセラーセミナー, 11 Feb. 2017, Invited

  
• 再生医療用iPS細胞の品質および細胞治療製品の非臨床試験の課題

  原田 直樹

  京都産業21 iPSネット ミニセミナー, 20 Jan. 2017, Invited

  
• マーカー染色体をみつけたら

  原田 直樹

  第168回染色体研究会, 17 Dec. 2016, Invited

  
• 出生前染色体検査の基本

  原田 直樹

  第23回臨床細胞遺伝学セミナー, 20 Aug. 2016, Invited

  
• iPS細胞の可能性〜突然変異と遺伝病の治療〜

  原田 直樹

  熊本県立熊本北高校SHH特別講義, 10 Jul. 2015, Invited

  
• CNV評価時のポイント

  原田 直樹

  第6回臨床遺伝情報検索講習会, 28 Feb. 2015

  
• 遺伝病はなぜ起こる？ 遺伝病の治療とiPS細胞の可能性

  原田 直樹

  個体差研セミナー, 08 Jan. 2015, Invited

  
• マイクロアレイ染色体検査とCNVの評価

  原田 直樹

  第２１回 臨床細胞遺伝学セミナー, 2014, Invited

  
• CNVの見分け方

  原田 直樹

  第2回臨床遺伝情報検索講習会, 2013

  
• マイクロアレイ染色体検査の現状

  原田 直樹

  第14回関東甲信越地区遺伝子・染色体検査セミナー, 2012, Invited

  
• ゲノムコピー数検査の現状

  原田 直樹

  第2回染色体ワークショップ, 2011

  
• マイクロアレイ染色体検査の現状

  原田 直樹

  第18回 臨床細胞遺伝学セミナー, 2011

  
• マイクロアレイ染色体検査の国際動向と企業の取り組み

  原田 直樹

  第3回 染色体ワークショップ, 2011

  
• 遺伝医学領域におけるゲノムコピー数解析の現状

  原田 直樹

  第34回遺伝カウンセリング学会学術集会, 2010

  
• 染色体検査とCytogenetics Array解析

  原田 直樹

  日本人類遺伝学会第５５回大会, 2010, Invited

  
• 妊娠産物染色体検査

  原田 直樹

  日本人類遺伝学会第5４回大会, 2009, Invited

  
• アレイ染色体検査とゲノムコピー数解析の最近の動向

  原田 直樹

  第1回染色体ワークショップ, 2009

  
• 出生前染色体検査（分析基準と考え方）

  原田 直樹

  第16回 遺伝医学セミナー, 2008, Invited

  
• 出生前染色体検査の現状と今後の方向性

  原田 直樹

  第３３回日本遺伝カウンセリング学会, 2008, Invited

  
• 臨床細胞遺伝学概論

  原田 直樹

  第16回 遺伝医学セミナー, 2006, Invited

  

Books and Other Publications

• Encyclopedia of genetics: origin of inheritance and diversity

  公益財団法人; 遺伝学普及会; 日本遺伝学会, Contributor, Genetic variation in genes and chromosomes

  丸善出版, Jan. 2022

  
• Fetal Morph Functional Diagnosis.

  Naoki Harada, Contributor, Chapter 23 Fetal Chromosome Analysis by Using Chromorome Banding Techniques.

  Springer, Jan. 2021

  
• 染色体FISH法

  矢野一美; 原田 直樹, Joint editor, 染色体FISH法

  小児内科, Nov. 2017, Not refereed

  
• Thompson & Thompson Genetics in Medicine

  Naoki Harada, Joint translation, Ch 4 Human Genetic Variation: variants and polymorphisms

  ELSEVIER, Mar. 2017, Not refereed

  

External funds: others

• （2019年度分）

  難治性疾患等政策研究事業

  From 01 Apr. 2019, To 31 Mar. 2020

  分担
• （2019年度分）

  難治性疾患等政策研究事業

  From 01 Apr. 2019, To 31 Mar. 2020

  分担
• （2020年度分）

  難治性疾患等政策研究事業

  From 01 Apr. 2020, To 31 Mar. 2021

  分担
• （平成30年度分）

  難治性疾患等政策研究事業

  From 01 Apr. 2018, To 31 Mar. 2019

  分担

Administration

Faculty management (title, position)

• From 20 Nov. 2014

  共通機器管理室長
• 共通機器管理運営委員会2号委員
• From 02 Oct. 2014, To 31 Mar. 2020

  ERES/CSV委員会5号委員
• From 01 Apr. 2016, To 31 Mar. 2020

  病院構内交通委員会委員
• From 01 Apr. 2016, To 31 Mar. 2018

  病院地区駐車区域運営委員会委員
• From 01 Apr. 2020, To 31 Mar. 2022

  医学部・病院構内交通委員会

Academic, Social Contribution

Committee Memberships

• From Oct. 2023, To Oct. 2027

  評議員, 日本人類遺伝学会
• From 01 Jun. 2017, To 31 Mar. 2025

  -, -
• From 01 Apr. 2014, To 31 Mar. 2025

  -, -
• From 01 Apr. 2014, To 31 Oct. 2023

  -, -
• From Apr. 2014, To Oct. 2027

  -, -
• From Apr. 2014, To Oct. 2027

  -, -
• From 01 Apr. 2016, To 31 Mar. 2023

  -, -
• From 01 Oct. 2017, To 31 Mar. 2021

  -, The Japan Society of Human Genetics
• From 01 Apr. 2014, To 31 Mar. 2020

  -, -
• From 01 Oct. 2005, To 07 Nov. 2019

  -, -
• From 01 Apr. 2014, To 31 Mar. 2019

  -, -
• From 01 Apr. 2014, To 31 Mar. 2017

  -, -
• From 01 Apr. 2014, To 31 Mar. 2015

  -, -

Social Contribution

• -

  Other

  -, From 23 Jun. 2014, To 30 Jun. 2026

  
• -

  Other

  -, From 09 Jan. 2020, To 09 Jan. 2020

  
• -

  Other

  -, From 22 Dec. 2018, To 22 Dec. 2018

  
• -

  Other

  -, From 25 Aug. 2018, To 25 Aug. 2018

  
• -

  Other

  -, From 03 Mar. 2018, To 03 Mar. 2018

  
• -

  Other

  -, From 08 Feb. 2018, To 08 Feb. 2018