FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Koh-ichiro Yoshiura

Research Profile

Concepts & Ideas

Procedures

Genes & Molecular Sequences

Single Nucleotide Polymorphism

Physiology

Disorders

Geographic Areas

Japan

Chemicals & Drugs

Co-author Network

Publications

TOP 3
Kazuya Kashiyama; Alan R Lehmann; Susan O Lewin; Tao-Sheng Li; David McGibbon; Norisato Mitsutake; Yuji Nagayama; Yuka Nakazawa; Tiziana Nardo; Daniela T Pilz; Robert Sarkany; Kensaku Sasaki; Mayuko Shimada; Miria Stefanini; Yoshito Takahashi; Atsushi Utani; Jonathan F Wing; Shunichi Yamashita; Koh-ichiro Yoshiura; Lucinda Carr; Hiva Fassihi; Heather Fawcett; Danielle Greenblatt; Chaowan Guo; Akiyoshi Hirano; Tomoo Ogi
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia.
Tomoo Ogi; Kensaku Sasaki; Atsushi Utani; Koh-ichiro Yoshiura; Chaowan Guo; Yuka Nakazawa; Yuji Nagayama
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].
Ai Higashijima; Ozora Jo; Akira Kinoshita; Hiroyuki Mishima; Kiyonori Miura; Shoko Miura; Kentaro Yamasaki; Atsushi Yoshida; Koh-ichiro Yoshiura; Shuhei Abe; Yuri Hasegawa; Hideaki Masuzaki
Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Koh-ichiro Yoshiura (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Kazuya Kashiyama; Alan R Lehmann; Susan O Lewin; Tao-Sheng Li; David McGibbon; Norisato Mitsutake; Yuji Nagayama; Yuka Nakazawa; Tiziana Nardo; Daniela T Pilz; Robert Sarkany; Kensaku Sasaki; Mayuko Shimada; Miria Stefanini; Yoshito Takahashi; Atsushi Utani; Jonathan F Wing; Shunichi Yamashita; Koh-ichiro Yoshiura; Lucinda Carr; Hiva Fassihi; Heather Fawcett; Danielle Greenblatt; Chaowan Guo; Akiyoshi Hirano; Tomoo Ogi
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia.
American journal of human genetics 2013;92(5):807-19.
2013: Tomoo Ogi; Kensaku Sasaki; Atsushi Utani; Koh-ichiro Yoshiura; Chaowan Guo; Yuka Nakazawa; Yuji Nagayama
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].
Seikagaku. The Journal of Japanese Biochemical Society 2013;85(3):133-44.
2013: Ai Higashijima; Ozora Jo; Akira Kinoshita; Hiroyuki Mishima; Kiyonori Miura; Shoko Miura; Kentaro Yamasaki; Atsushi Yoshida; Koh-ichiro Yoshiura; Shuhei Abe; Yuri Hasegawa; Hideaki Masuzaki
Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy.
Prenatal diagnosis 2013;33(3):214-22.
2013: Akimitsu Yamada; Koh-ichiro Yoshiura; Takashi Chishima; Yasushi Ichikawa; Takashi Ishikawa; Mariko Kimura; Satoshi Morita; Ikuko Ota; Takeshi Sasaki; Daisuke Shimizu; Kazuaki Takabe; Mikiko Tanabe; Itaru Endo
High expression of ATP-binding cassette transporter ABCC11 in breast tumors is associated with aggressive subtypes and low disease-free survival.
Breast cancer research and treatment 2013;137(3):773-82.
2013: Kensaku Sasaki; Hiroyuki Mishima; Kiyonori Miura; Koh-ichiro Yoshiura
Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
Gene 2013;512(2):267-74.
2012: Masanori Hikida; Akiyoshi Hirano; Akira Kinoshita; Masayoshi Tsuda; Takeshi Uchiyama; Akira Watanabe; sadanori akita; Koh-ichiro Yoshiura
No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2012;49(6):714-7.
2012: Atsushi Kawakami; Kiyoshi Migita; Koh-ichiro Yoshiura; Kazuhiko Arima; Hiroaki Ida; Katsumi Eguchi
[109th Scientific Meeting of the Japanese Society of Internal Medicine: educational lecture: 14. Autoinflammatory syndrome].
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine 2012;101(9):2733-9.
2012: Junichi Arai; Tomayoshi Hayashi; Keitaro Matsumoto; Takuro Miyazaki; Koji Mochinaga; Masahiro Oikawa; Tomoshi Tsuchiya; Kazuhiro Tsukamoto; Naoya Yamasaki; Koh-ichiro Yoshiura; Takeshi Nagayasu
Clinical and molecular analysis of synchronous double lung cancers.
Lung cancer (Amsterdam, Netherlands) 2012;77(2):281-7.
2012: Yuka Nakazawa; Tiziana Nardo; Masayo Nomura; Kosei Ito; Akira Kinoshita; Takashi Kudo; Alan R Lehmann; Ritsuko Masuyama; Michiko Matsuse; Hiroyuki Mishima; Norisato Mitsutake; Kaname Ohyama; Shinji Ono; Kensaku Sasaki; Mayuko Shimada; Hanoch Slor; Miria Stefanini; Yoshito Takahashi; Katsuya Takenaka; Satoshi Tateishi; Atsushi Utani; Shunichi Yamashita; Koh-ichiro Yoshiura; Tomoo Ogi
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nature genetics 2012;44(5):586-92.
2012: Shinji Ono; Toshio Osamura; Hiroki Ozawa; Miyuki Sadamatsu; Kayoko Saito; Hiroaki Tomita; Ayako Yasuda; Koh-ichiro Yoshiura; Shinichi Hirose; Takeshi Inoue; Kazuaki Kanai; Nobumasa Kato; Taeko Kikuchi; Akira Kinoshita; Hiroyoshi Koide; Maki Komine; Tohru Konishi; Masato Matsuura; Shinichiro Nagamitsu; Yoshibumi Nakane; Norio Niikawa; Naohiro Kurotaki
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Journal of human genetics 2012;57(5):338-41.
2012: Toshihisa Ishikawa; Yu Toyoda; Koh-ichiro Yoshiura; Norio Niikawa
Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.
Frontiers in genetics 2012;3():306.
2012: Hiroyuki Mishima; Jan Aerts; Raoul J P Bonnal; Toshiaki Katayama; Koh-ichiro Yoshiura
The Ruby UCSC API: accessing the UCSC genome database using Ruby.
BMC bioinformatics 2012;13():240.
2012: Michiko Matsuse; Shigeki Minami; Norisato Mitsutake; Eijun Nishihara; Vladimir Saenko; Kensaku Sasaki; Keiji Suzuki; Chisa Hayashida; Hisayoshi Kondo; Koh-ichiro Yoshiura; Shunichi Yamashita
Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups.
PloS one 2012;7(4):e36063.
2011: Kentaro Yamasaki; Koh-ichiro Yoshiura; Akira Fujishita; Rie Ikemoto; Akira Kinoshita; Kouhei Kotera; Kiyonori Miura; Shoko Miura; Makoto Murakami; Tetsuro Sameshima; Takako Shimada; Hideaki Masuzaki
Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology.
The journal of obstetrics and gynaecology research 2011;37(11):1666-70.
2011: K Sasaki; O Shimokawa; T Yorifuji; Koh-ichiro Yoshiura; K Kosaki; H Mishima; N Okamoto; Naoki Harada
Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.
Clinical genetics 2011;80(5):478-83.
2011: Kazuhiko Arima; Katsumi Eguchi; Fukumi Furukawa; Makito Hirano; Kunihiro Ichinose; Hiroaki Ida; Nobuo Kanazawa; Takeumi Kaneko; Shimpei Kasagi; Atsushi Kawakami; Seiji Kawano; Akira Kinoshita; Shunichi Kumagai; Masahiro Matsunaka; Tsuneyo Mimori; Hiroyuki Mishima; Tsunehiro Mizushima; Shigeo Murata; Hideki Nakamura; Norio Niikawa; Koichiro Ohmura; Hirotoshi Sugino; Keiji Tanaka; Keiko Tanaka; Masami Tanaka; Itaru Toyoshima; Akira Tsujino; Satoshi Ueno; Akio Yamakawa; Koh-ichiro Yoshiura
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(36):14914-9.
2011: Masahiro Oikawa; Hiroshi Yano; Kuniko Abe; Tomayoshi Hayashi; Akira Kinoshita; Takeshi Nagayasu; Koh-ichiro Yoshiura
Intracystic papillary carcinoma of breast harbors significant genomic alteration compared with intracystic papilloma: genome-wide copy number and LOH analysis using high-density single-nucleotide polymorphism microarrays.
The breast journal 2011;17(4):427-30.
2011: Kiyonori Miura; Ai Higashijima; Takako Shimada; Shoko Miura; Kentaro Yamasaki; Shuhei Abe; Ozora Jo; Akira Kinoshita; Atsushi Yoshida; Shuichiro Yoshimura; Norio Niikawa; Koh-ichiro Yoshiura; Hideaki Masuzaki
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.
Journal of human genetics 2011;56(4):296-9.
2011: Kentaro Yamasaki; Kiyonori Miura; Takako Shimada; Shoko Miura; Shuhei Abe; Makoto Murakami; Tetsuro Sameshima; Akira Fujishita; Kouhei Kotera; Akira Kinoshita; Koh-ichiro Yoshiura; Hideaki Masuzaki
Epidemiology of human papillomavirus genotypes in pregnant Japanese women.
Journal of human genetics 2011;56(4):313-5.
2011: Shinji Ono; Koh-ichiro Yoshiura; Naohiro Kurotaki; Taeko Kikuchi; Norio Niikawa; Akira Kinoshita
Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.
Movement disorders : official journal of the Movement Disorder Society 2011;26(4):761-3.
2011: Ippei Okada; Haruka Hamanoue; Koji Terada; Takaya Tohma; Andre Megarbane; Eliane Chouery; Joelle Abou-Ghoch; Nadine Jalkh; Ozgur Cogulu; Ferda Ozkinay; Kyoji Horie; Junji Takeda; Tatsuya Furuichi; Shiro Ikegawa; Kiyomi Nishiyama; Satoko Miyatake; Akira Nishimura; Takeshi Mizuguchi; Norio Niikawa; Fumiki Hirahara; Tadashi Kaname; Koh-ichiro Yoshiura; Yoshinori Tsurusaki; Hiroshi Doi; Noriko Miyake; Takahisa Furukawa; Naomichi Matsumoto; Hirotomo Saitsu
SMOC1 is essential for ocular and limb development in humans and mice.
American journal of human genetics 2011;88(1):30-41.
2011: Masahiro Oikawa; Koh-ichiro Yoshiura; Hisayoshi Kondo; Shiro Miura; Takeshi Nagayasu; Masahiro Nakashima
Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization.
Radiation oncology (London, England) 2011;6():168.
2011: Nobuo Kanazawa; Koh-ichiro Yoshiura; Kazuhiko Arima; Hiroaki Ida; Fukumi Furukawa
[Nakajo-Nishimura syndrome].
Nihon Rinshō Men'eki Gakkai kaishi = Japanese journal of clinical immunology 2011;34(5):388-400.
2011: Hiroyuki Mishima; Kensaku Sasaki; Masahiro Tanaka; Osamu Tatebe; Koh-ichiro Yoshiura
Agile parallel bioinformatics workflow management using Pwrake.
BMC research notes 2011;4():331.
2011: Naohiro Kurotaki; Hiroyuki Mishima; Nao Nishida; Shinji Ono; Akira Imamura; Taeko Kikuchi; Shinya Tasaki; Katsushi Tokunaga; Koh-ichiro Yoshiura; Hiroki Ozawa
Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.
PloS one 2011;6(5):e20589.
2011: Dawar Amani; Fatemeh Ravangard; Norrio Niikawa; Koh-ichiro Yoshiura; Mojtaba Karimzadeh; Alamtaj Samsami Dehaghani; Abbas Ghaderi
Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion.
Journal of reproductive immunology 2011;88(1):42-7.
2010: Ikuko Ota; Aki Sakurai; Yu Toyoda; Satoshi Morita; Takeshi Sasaki; Takashi Chishima; Minoru Yamakado; Yuki Kawai; Takefumi Ishidao; Alexander Lezhava; Koh-ichiro Yoshiura; Shinji Togo; Yoshihide Hayashizaki; Takashi Ishikawa; Toshihisa Ishikawa; Itaru Endo; Hiroshi Shimada
Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11.
Anticancer research 2010;30(12):5189-94.
2010: Kiyonori Miura; Shoko Miura; Kentaro Yamasaki; Ai Higashijima; Akira Kinoshita; Koh-ichiro Yoshiura; Hideaki Masuzaki
Identification of pregnancy-associated microRNAs in maternal plasma.
Clinical chemistry 2010;56(11):1767-71.
2010: Shinji Ono; Akira Imamura; Shinya Tasaki; Naohiro Kurotaki; Hiroki Ozawa; Koh-ichiro Yoshiura; Yuji Okazaki
Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2010;13(5):455-60.
2010: Noriko Matsuzawa; Shinji Kondo; Kazuo Shimozato; Toru Nagao; Motoi Nakano; Masayoshi Tsuda; Akiyoshi Hirano; Norio Niikawa; Koh-ichiro Yoshiura
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
American journal of medical genetics. Part A 2010;152A(9):2262-7.
2010: Sarah B Ng; Abigail W Bigham; Kati J Buckingham; Mark C Hannibal; Margaret J McMillin; Heidi I Gildersleeve; Anita E Beck; Holly K Tabor; Gregory M Cooper; Heather C Mefford; Choli Lee; Emily H Turner; Joshua D Smith; Mark J Rieder; Koh-ichiro Yoshiura; Naomichi Matsumoto; Tohru Ohta; Norio Niikawa; Deborah A Nickerson; Michael J Bamshad; Jay Shendure
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Nature genetics 2010;42(9):790-3.
2010: Kiyonori Miura; Shoko Miura; Kentaro Yamasaki; Takako Shimada; Akira Kinoshita; Norio Niikawa; Koh-ichiro Yoshiura; Hideaki Masuzaki
The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.
Prenatal diagnosis 2010;30(9):849-61.
2010: Masahiro Oikawa; Hideo Kuniba; Tatsuro Kondoh; Akira Kinoshita; Takeshi Nagayasu; Norio Niikawa; Koh-ichiro Yoshiura
Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.
European journal of medical genetics 2010;53(5):244-9.
2010: Koh-ichiro Yoshiura
[Monogenic inheritance disorder].
Nihon rinsho. Japanese journal of clinical medicine 2010;68 Suppl 8():7-12.
2010: Kiyonori Miura; Shoko Miura; Koh-ichiro Yoshiura; Stephanie Seminara; Daisuke Hamaguchi; Norio Niikawa; Hideaki Masuzaki
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
Human reproduction (Oxford, England) 2010;25(4):1076-80.
2010: Taichi Takahata; Koki Yamada; Yoshihisa Yamada; Shinji Ono; Akira Kinoshita; Tetsuo Matsuzaka; Koh-ichiro Yoshiura; Takashi Kitaoka
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Journal of human genetics 2010;55(3):142-6.
2010: Masayoshi Tsuda; Takahiro Yamada; Tadashi Mikoya; Izumi Sogabe; Mitsuko Nakashima; Hisanori Minakami; Tatsuya Kishino; Akira Kinoshita; Norio Niikawa; Akiyoshi Hirano; Koh-ichiro Yoshiura
A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.
Journal of human genetics 2010;55(2):124-6.
2009: Jane W Kimani; Koh-ichiro Yoshiura; Min Shi; Astanand Jugessur; Danilo Moretti-Ferreira; Kaare Christensen; Jeffrey C Murray
Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2009;12(5):462-8.
2009: Junichiro Machida; Têmis M Félix; Jeffrey C Murray; Koh-ichiro Yoshiura; Mitsuyo Tanemura; Munefumi Kamamoto; Kazuo Shimozato; Shin-ichi Sonta; Takao Ono
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2009;46(5):532-40.
2009: Yu Toyoda; Aki Sakurai; Yasumasa Mitani; Masahiro Nakashima; Koh-ichiro Yoshiura; Hiroshi Nakagawa; Yasuo Sakai; Ikuko Ota; Alexander Lezhava; Yoshihide Hayashizaki; Norio Niikawa; Toshihisa Ishikawa
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009;23(6):2001-13.
2009: Hideo Kuniba; Koh-ichiro Yoshiura; Tatsuro Kondoh; Hirofumi Ohashi; Kenji Kurosawa; Hidefumi Tonoki; Toshiro Nagai; Nobuhiko Okamoto; Mitsuhiro Kato; Yoshimitsu Fukushima; Tadashi Kaname; Kenji Naritomi; Tadashi Matsumoto; Hiroyuki Moriuchi; Tatsuya Kishino; Akira Kinoshita; Noriko Miyake; Naomichi Matsumoto; Norio Niikawa
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Journal of human genetics 2009;54(5):304-9.
2009: Kazumi Miyazaki; Christophe K Mapendano; Tomokazu Fuchigami; S Kondo; Tohru Ohta; Akira Kinoshita; Kazuhiro Tsukamoto; Koh-ichiro Yoshiura; Norio Niikawa; Tatsuya Kishino
Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.
Gene 2009;432(1-2):97-101.
2009: Lingqian Wu; Desheng Liang; Norio Niikawa; Fen Ma; Miao Sun; Qian Pan; Zhigao Long; Zhongmin Zhou; Koh-ichiro Yoshiura; Hua Wang; Daisuke Sato; Gen Nishimura; Heping Dai; Xue Zhang; Jiahui Xia
A ZRS duplication causes syndactyly type IV with tibial hypoplasia.
American journal of medical genetics. Part A 2009;149A(4):816-8.
2009: Hideo Kuniba; Ritsuko K Pooh; Kensaku Sasaki; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masanori Egashira; Hiroyuki Moriuchi; Koh-ichiro Yoshiura; Norio Niikawa
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
American journal of medical genetics. Part A 2009;149A(4):785-7.
2009: Motoi Nakano; Nobutomo Miwa; Akiyoshi Hirano; Koh-ichiro Yoshiura; Norio Niikawa
A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.
BMC genetics 2009;10():42.
2008: Mitsuko Nakashima; Masayoshi Tsuda; Akira Kinoshita; Tatsuya Kishino; Shinji Kondo; Osamu Shimokawa; Norio Niikawa; Koh-ichiro Yoshiura
Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA.
Clinical chemistry 2008;54(10):1746-8.
2008: Kiyonori Miura; Shoko Miura; Kentaro Yamasaki; Atsushi Yoshida; Koh-ichiro Yoshiura; Daisuke Nakayama; Norio Niikawa; Hideaki Masuzaki
Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy.
Prenatal diagnosis 2008;28(9):805-9.
2008: Hideo Kuniba; Daisuke Sato; Koh-ichiro Yoshiura; Hirofumi Ohashi; Kenji Kurosawa; Noriko Miyake; Tasturo Kondoh; Tadashi Matsumoto; Toshiro Nagai; Nobuhiko Okamoto; Yoshimitsu Fukushima; Kenji Naritomi; Naomichi Matsumoto; Norio Niikawa
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
American journal of medical genetics. Part A 2008;146A(14):1893-6.
2008: Lingqian Wu; Zhigao Long; Desheng Liang; Naoki Harada; Qian Pan; Koh-ichiro Yoshiura; Kun Xia; Heping Dai; Norio Niikawa; Jiahui Xia
Pre- and postnatal overgrowth in a patient with proximal 4p deletion.
American journal of medical genetics. Part A 2008;146A(6):791-4.
2008: 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
A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.
American journal of medical genetics. Part A 2008;146A(1):124-7.
2008: Mitsuko Nakashima; Motoi Nakano; Akiyoshi Hirano; Tatsuya Kishino; Shinji Kondoh; Nobutomo Miwa; Norio Niikawa; Koh-ichiro Yoshiura
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.
Journal of human genetics 2008;53(1):34-41.
2007: Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Isoko Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Koh-ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
American journal of human genetics 2007;81(4):835-41.
2007: Alan Shiels; Thomas M Bennett; Harry L S Knopf; Koki Yamada; Koh-ichiro Yoshiura; Norio Niikawa; Soomin Shim; Phyllis I Hanson
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
American journal of human genetics 2007;81(3):596-606.
2007: Aki Sakurai; Yuko Onishi; Hiroyuki Hirano; Michel Seigneuret; Kazuya Obanayama; Gunwoo Kim; Ei Leen Liew; Toshiyuki Sakaeda; Koh-ichiro Yoshiura; Norio Niikawa; Minoru Sakurai; Toshihisa Ishikawa
Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1).
Biochemistry 2007;46(26):7678-93.
2007: Kiyonori Miura; Kentaro Yamasaki; Shoko Miura; Koh-ichiro Yoshiura; Takako Shimada; Daisuke Nakayama; Norio Niikawa; Hideaki Masuzaki
Circulating cell-free placental mRNA in the maternal plasma as a predictive marker for twin-twin transfusion syndrome.
Clinical chemistry 2007;53(6):1167-8.
2007: Kiyonori Miura; Koh-ichiro Yoshiura; Shoko Miura; Takako Shimada; Kentaro Yamasaki; Atsushi Yoshida; Daisuke Nakayama; Yoshisada Shibata; Norio Niikawa; Hideaki Masuzaki
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.
Human genetics 2007;121(5):631-3.
2007: 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
Congenital arhinia: molecular-genetic analysis of five patients.
American journal of medical genetics. Part A 2007;143(6):546-52.
2007: Sumito Dateki; Tatsuro Kondoh; Gen Nishimura; Katsuaki Motomura; Koh-ichiro Yoshiura; Akira Kinoshita; Hideo Kuniba; Yoshiyuki Koga; Hiroyuki Moriuchi
A Japanese patient with a mild Lenz-Majewski syndrome.
Journal of human genetics 2007;52(8):686-9.
2007: Daisuke Sato; Desheng Liang; Lingqian Wu; Qian Pan; Kun Xia; Heping Dai; Hua Wang; Gen Nishimura; Koh-ichiro Yoshiura; Jiahui Xia; Norio Niikawa
A syndactyly type IV locus maps to 7q36.
Journal of human genetics 2007;52(6):561-4.
2007: Taeko Kikuchi; Masayo Nomura; Hiroaki Tomita; Naoki Harada; Kazuaki Kanai; Tohru Konishi; Ayako Yasuda; Masato Matsuura; Nobumasa Kato; Koh-ichiro Yoshiura; Norio Niikawa
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.
Journal of human genetics 2007;52(4):334-41.
2007: Yoko Yamasaki-Ishizaki; Tomohiko Kayashima; Christophe K Mapendano; Hidenobu Soejima; Tohru Ohta; Hideaki Masuzaki; Akira Kinoshita; Takeshi Urano; Koh-ichiro Yoshiura; Naomichi Matsumoto; Tadayuki Ishimaru; Tsunehiro Mukai; Norio Niikawa; Tatsuya Kishino
Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.
Molecular and cellular biology 2007;27(2):732-42.
2006: Noriko Matsuzawa; Kazuo Shimozato; Nagato Natsume; Norio Niikawa; Koh-ichiro Yoshiura
A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.
Journal of dental research 2006;85(12):1143-6.
2006: Kiyonori Miura; Koh-ichiro Yoshiura; Shoko Miura; Kentaro Yamasaki; Daisuke Nakayama; Tadayuki Ishimaru; Joseph Wagstaff; Norio Niikawa; Hideaki Masuzaki
Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage.
Clinical chemistry 2006;52(11):2121-3.
2006: Noriko Matsuzawa; Toru Nagao; Kazuo Shimozato; Norio Niikawa; Koh-ichiro Yoshiura
Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.
Journal of clinical pathology 2006;59(10):1084-6.
2006: Kiyonori Miura; Koh-ichiro Yoshiura; Shoko Miura; Tatsuro Kondoh; Naoki Harada; Kentaro Yamasaki; Yoko Fujimoto; Yoko Yamasaki; Terumi Tanigawa; Yuriko Kitajima; Takako Shimada; Atsushi Yoshida; Daisuke Nakayama; Masato Tagawa; Shuichiro Yoshimura; Joseph Wagstaff; Yoshihiro Jinno; Tadayuki Ishimaru; Norio Niikawa; Hideaki Masuzaki
Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause.
American journal of medical genetics. Part A 2006;140A(17):1827-33.
2006: Shoko Miura; Kiyonori Miura; Toshiyuki Yamamoto; Michiko Yamanaka; Keisuke Saito; Tomoo Hirabuki; Kenji Kurosawa; Naoki Harada; Yoko Ishizaki-Yamasaki; Naomichi Matsumoto; Fumiki Hirahara; Koh-ichiro Yoshiura; Hideaki Masuzaki; Norio Niikawa
Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses.
American journal of medical genetics. Part A 2006;140(16):1737-43.
2006: Akira Watanabe; sadanori akita; Nguyen Thi Duc Tin; Nagato Natsume; Yoko Nakano; Norio Niikawa; Takeshi Uchiyama; Koh-ichiro Yoshiura
A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(3):310-6.
2006: Ikuyo Higashimoto; Koh-ichiro Yoshiura; Naomi Hirakawa; Ken Higashimoto; Hidenobu Soejima; Tadahide Totoki; Tsunehiro Mukai; Norio Niikawa
Primary palmar hyperhidrosis locus maps to 14q11.2-q13.
American journal of medical genetics. Part A 2006;140(6):567-72.
2006: Hiroki Kawara; Toshiyuki Yamamoto; Naoki Harada; Koh-ichiro Yoshiura; Norio Niikawa; Akira Nishimura; Takeshi Mizuguchi; Naomichi Matsumoto
Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23.
American journal of medical genetics. Part A 2006;140(4):373-7.
2006: Noriko Miyake; Osamu Shimokawa; Naoki Harada; Nadiya Sosonkina; Aiko Okubo; Hiroki Kawara; Nobuhiko Okamoto; Kenji Kurosawa; Hiroshi Kawame; Mie Iwakoshi; Tomoki Kosho; Yoshimitsu Fukushima; Yoshio Makita; Yuji Yokoyama; Takanori Yamagata; Mitsuhiro Kato; Yoko Hiraki; Masayo Nomura; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Takeshi Mizuguchi; Norio Niikawa; Naomichi Matsumoto
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
American journal of medical genetics. Part A 2006;140(3):205-11.
2006: Desheng Liang; Lingqian Wu; Qian Pan; Naoki Harada; Zhigao Long; Kun Xia; Koh-ichiro Yoshiura; Heping Dai; Norio Niikawa; Fang Cai; Jiahui Xia
A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.
American journal of medical genetics. Part A 2006;140(3):238-44.
2006: Noriko Miyake; Osamu Shimokawa; Naoki Harada; Nadiya Sosonkina; Aiko Okubo; Hiroki Kawara; Nobuhiko Okamoto; Hirofumi Ohashi; Kenji Kurosawa; Kenji Naritomi; Tadashi Kaname; Toshiro Nagai; Vorasuk Shotelersuk; Jia-Woei Hou; Yoshimitsu Fukushima; Tatsuro Kondoh; Tadashi Matsumoto; Toshihiko Shinoki; Mitsuhiro Kato; Hidefumi Tonoki; Masayo Nomura; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients.
American journal of medical genetics. Part A 2006;140(3):291-3.
2006: Shoko Miura; Kiyonori Miura; Hideaki Masuzaki; Noriko Miyake; Koh-ichiro Yoshiura; Nadiya Sosonkina; Naoki Harada; Osamu Shimokawa; Daisuke Nakayama; Shuichiro Yoshimura; Naomichi Matsumoto; Norio Niikawa; Tadayuki Ishimaru
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.
Journal of human genetics 2006;51(5):412-7.
2006: Takako Ohata; Kunihiro Yoshida; Haruya Sakai; Haruka Hamanoue; Takeshi Mizuguchi; Yusaku Shimizu; Tomomi Okano; Fumio Takada; Kinya Ishikawa; Hidehiro Mizusawa; Koh-ichiro Yoshiura; Yoshimitsu Fukushima; Shu-ichi Ikeda; Naomichi Matsumoto
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
Journal of human genetics 2006;51(5):461-6.
2006: Christophe K Mapendano; Tatsuya Kishino; Kazumi Miyazaki; Shinji Kondo; Koh-ichiro Yoshiura; Yoshitaka Hishikawa; Takehiko Koji; Norio Niikawa; Tohru Ohta
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.
Journal of human genetics 2006;51(3):236-43.
2006: Eisaburo Ichikawa; Akira Watanabe; Yoko Nakano; sadanori akita; Akiyoshi Hirano; Akira Kinoshita; Shinji Kondo; Tatsuya Kishino; Takeshi Uchiyama; Norio Niikawa; Koh-ichiro Yoshiura
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
Journal of human genetics 2006;51(1):38-46.
2005: Koh-ichiro Yoshiura; Norio Niikawa
[Positional cloning of disease gene].
Nihon rinsho. Japanese journal of clinical medicine 2005;63 Suppl 12():421-6.
2005: Dawar Amani; Alamtaj Samsami Dehaghani; Jaleh Zolghadri; Fatemeh Ravangard; Norrio Niikawa; Koh-ichiro Yoshiura; Abbas Ghaderi
Lack of association between the TGF-beta1 gene polymorphisms and recurrent spontaneous abortion.
Journal of reproductive immunology 2005;68(1-2):91-103.
2005: Yoko Yamasaki; Tomohiko Kayashima; Hidenobu Soejima; Akira Kinoshita; Koh-ichiro Yoshiura; Naomichi Matsumoto; Tohru Ohta; Takeshi Urano; Hideaki Masuzaki; Tadayuki Ishimaru; Tsunehiro Mukai; Norio Niikawa; Tatsuya Kishino
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
Human molecular genetics 2005;14(17):2511-20.
2005: Osamu Shimokawa; Noriko Miyake; Takazumi Yoshimura; Nadiya Sosonkina; Naoki Harada; Takeshi Mizuguchi; Shinji Kondoh; Tatsuya Kishino; Tohru Ohta; Visser Remco; Takeshi Takashima; Akira Kinoshita; Koh-ichiro Yoshiura; Norio Niikawa; Naomichi Matsumoto
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.
American journal of medical genetics. Part A 2005;136(1):49-51.
2005: Hideaki Masuzaki; Kiyonori Miura; Kentaro Yamasaki; Shoko Miura; Koh-ichiro Yoshiura; Shuichiro Yoshimura; Daisuke Nakayama; Christophe K Mapendano; Norio Niikawa; Tadayuki Ishimaru
Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease.
Clinical chemistry 2005;51(7):1261-3.
2005: Noriko Miyake; Remco Visser; Akira Kinoshita; Koh-ichiro Yoshiura; Norio Niikawa; Tatsuro Kondoh; Naomichi Matsumoto; Naoki Harada; Nobuhiko Okamoto; Tohru Sonoda; Kenji Naritomi; Tadashi Kaname; Yasutsugu Chinen; Hidefumi Tonoki; Kenji Kurosawa
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2005;135(1):103-5.
2005: Hideaki Masuzaki; Kiyonori Miura; Koh-ichiro Yoshiura; Kentaro Yamasaki; Shoko Miura; Shuichiro Yoshimura; Daisuke Nakayama; Christophe K Mapendano; Norio Niikawa; Tadayuki Ishimaru
Placental mRNA in maternal plasma and its clinical application to the evaluation of placental status in a pregnant woman with placenta previa-percreta.
Clinical chemistry 2005;51(5):923-5.
2005: Hiroshi Iwanaga; Akira Tsujino; Susumu Shirabe; Hiroto Eguchi; Naomi Fukushima; Norio Niikawa; Koh-ichiro Yoshiura; Katsumi Eguchi
Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.
American journal of medical genetics. Part A 2005;133A(1):13-7.
2005: Masayo Nomura; Yoh-ichiro Hamasaki; Ichiro Katayama; Kuniko Abe; Norio Niikawa; Koh-ichiro Yoshiura
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.
Journal of human genetics 2005;50(9):483-9.
2004: Hideaki Masuzaki; Kiyonori Miura; Shuichiro Yoshimura; Koh-ichiro Yoshiura; Tadayuki Ishimaru
A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern.
European journal of obstetrics, gynecology, and reproductive biology 2004;117(1):102-4.
2004: Noriko Matsuzawa; Koh-ichiro Yoshiura; Junichiro Machida; Tomoyasu Nakamura; Teruyuki Niimi; Hiroo Furukawa; Tetsuro Toyoda; Nagato Natsume; Kazuo Shimozato; Norio Niikawa
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2004;98(4):414-7.
2004: Hideaki Masuzaki; Kiyonori Miura; Shoko Miura; Koh-ichiro Yoshiura; Christophe K Mapendano; Daisuke Nakayama; Shuichiro Yoshimura; Norio Niikawa; Tadayuki Ishimaru
Labor increases maternal DNA contamination in cord blood.
Clinical chemistry 2004;50(9):1709-11.
2004: Theresa M Zucchero; Margaret E Cooper; Brion S Maher; Sandra Daack-Hirsch; Buena Nepomuceno; Lucilene Ribeiro; Diana Caprau; Kaare Christensen; Yasushi Suzuki; Junichiro Machida; Nagato Natsume; Koh-ichiro Yoshiura; Alexandre R Vieira; Iêda M Orioli; Eduardo E Castilla; Lina Moreno; Mauricio Arcos-Burgos; Andrew C Lidral; L Leigh Field; You-e Liu; Ajit Ray; Toby Goldstein; Rebecca E Schultz; Min Shi; Marla K Johnson; Shinji Kondo; Brian C Schutte; Mary L Marazita; Jeffrey C Murray
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
The New England journal of medicine 2004;351(8):769-80.
2004: Takeshi Mizuguchi; Gwenaëlle Collod-Beroud; Takushi Akiyama; Marianne Abifadel; Naoki Harada; Takayuki Morisaki; Delphine Allard; Mathilde Varret; Mireille Claustres; Hiroko Morisaki; Makoto Ihara; Akira Kinoshita; Koh-ichiro Yoshiura; Claudine Junien; Tadashi Kajii; Guillaume Jondeau; Tohru Ohta; Tatsuya Kishino; Yoichi Furukawa; Yusuke Nakamura; Norio Niikawa; catherine boileau; Naomichi Matsumoto
Heterozygous TGFBR2 mutations in Marfan syndrome.
Nature genetics 2004;36(8):855-60.
2004: Noriko Miyake; Naoki Harada; Osamu Shimokawa; Hirofumi Ohashi; Kenji Kurosawa; Tadashi Matsumoto; Yoshimitsu Fukushima; Toshiro Nagai; Vorasuk Shotelersuk; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.
American journal of medical genetics. Part A 2004;128A(2):170-2.
2004: Osamu Shimokawa; Kenji Kurosawa; Tomoko Ida; Naoki Harada; Tatsuro Kondoh; Noriko Miyake; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
Molecular characterization of inv dup del(8p): analysis of five cases.
American journal of medical genetics. Part A 2004;128A(2):133-7.
2004: Aiko Okubo; O Miyoshi; K Baba; M Takagi; K Tsukamoto; Akira Kinoshita; Koh-ichiro Yoshiura; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Naomichi Matsumoto
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.
Journal of medical genetics 2004;41(7):e97.
2004: Mohsen Ghadami; Keyvan Majidzadeh-A; Saeid Morovvati; Elia Damavandi; Gen Nishimura; Kazuki Komatsu; Akira Kinoshita; Mohammad-Taghi Najafi; Norio Niikawa; Koh-ichiro Yoshiura
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?
American journal of medical genetics. Part A 2004;127A(3):307-9.
2004: Akira Kinoshita; Yasuyuki Fukumaki; Shuya Shirahama; Akira Miyahara; Gen Nishimura; Nobuhiko Haga; Atsushi Namba; Hitoshi Ueda; Hiromi Hayashi; Shiro Ikegawa; Joerg Seidel; Norio Niikawa; Koh-ichiro Yoshiura
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.
American journal of medical genetics. Part A 2004;127A(1):104-7.
2004: Mohsen Ghadami; Saeid Morovvati; Keyvan Majidzadeh-A; Elia Damavandi; Gen Nishimura; Akira Kinoshita; P Pasalar; Kazuki Komatsu; Mohammad-Taghi Najafi; Norio Niikawa; Koh-ichiro Yoshiura
Isolated congenital anosmia locus maps to 18p11.23-q12.2.
Journal of medical genetics 2004;41(4):299-303.
2004: Takahiro Yamada; Kohzoh Mitsuya; Tomohiko Kayashima; Kentaro Yamasaki; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Hideto Yamada; Hisanori Minakami; Mitsuo Oshimura; Norio Niikawa; Tatsuya Kishino
Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.
Genomics 2004;83(3):402-12.
2004: N Harada; E Hatchwell; N Okamoto; M Tsukahara; K Kurosawa; Hiroshi Kawame; T Kondoh; H Ohashi; R Tsukino; Y Kondoh; Osamu Shimokawa; T Ida; T Nagai; Y Fukushima; Koh-ichiro Yoshiura; Norio Niikawa; N Matsumoto
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation.
Journal of medical genetics 2004;41(2):130-6.
2004: Noriko Miyake; Hidefumi Tonoki; Marta Gallego; Naoki Harada; Osamu Shimokawa; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Phenotype-genotype correlation in two patients with 12q proximal deletion.
Journal of human genetics 2004;49(5):282-4.
2004: 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
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
Journal of human genetics 2004;49(7):360-5.
2004: Takeshi Mizuguchi; Itsuko Furuta; Yukio Watanabe; Kazuhiro Tsukamoto; Hiroshi Tomita; Mitsuhiro Tsujihata; Tohru Ohta; Tatsuya Kishino; Naomichi Matsumoto; Hisanori Minakami; Norio Niikawa; Koh-ichiro Yoshiura
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
Journal of human genetics 2004;49(2):80-6.
2004: Hideaki Masuzaki; Kiyonori Miura; Koh-ichiro Yoshiura; Shuichiro Yoshimura; Tadayuki Ishimaru
A monozygotic conjoined twin pregnancy discordant for laterality of cleft lip.
Gynecologic and obstetric investigation 2004;57(2):100-2.
2003: J Kamimura; Y Endo; Naohiro Kurotaki; Akira Kinoshita; Noriko Miyake; Osamu Shimokawa; Naoki Harada; Remco Visser; Hirofumi Ohashi; K Miyakawa; J Gerritsen; A M Innes; L Lagace; M Frydman; Nobuhiko Okamoto; R Puttinger; Salmo Raskin; Biserka Resic; Viktor Culic; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; M Ishikawa; Norio Niikawa; Naomichi Matsumoto
Identification of eight novel NSD1 mutations in Sotos syndrome.
Journal of medical genetics 2003;40(11):e126.
2003: Hirobumi Sugawara; Naoki Harada; Tomoko Ida; Takafumi Ishida; David Ledbetter; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
Genomics 2003;82(2):238-44.
2003: Yuki Kondoh; Takaya Toma; Hirofumi Ohashi; Naoki Harada; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A 2003;120A(1):123-6.
2003: Tomohiko Kayashima; Kentaro Yamasaki; Keiichiro Joh; Takahiro Yamada; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Yoshibumi Nakane; Tsunehiro Mukai; Norio Niikawa; Tatsuya Kishino
Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.
Genomics 2003;81(6):644-7.
2003: Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
American journal of human genetics 2003;72(5):1331-7.
2003: Vorasuk Shotelersuk; Chalurmpon Srichomthong; Koh-ichiro Yoshiura; Norio Niikawa
A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.
International journal of molecular medicine 2003;11(4):505-7.
2003: Tomohiko Kayashima; Kentaro Yamasaki; Takahiro Yamada; Hideki Sakai; Nobutomo Miwa; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Yoshibumi Nakane; Hiroshi Kanetake; Fumitoshi Ishino; Norio Niikawa; Tatsuya Kishino
The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.
Human genetics 2003;112(3):220-6.
2002: Naoki Harada; Jun Takano; Tatsuro Kondoh; Hirofumi Ohashi; Tomonobu Hasegawa; Hirobumi Sugawara; Tomoko Ida; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Tadashi Kajii; Norio Niikawa; Naomichi Matsumoto
Duplication of 8p23.2: a benign cytogenetic variant?
American journal of medical genetics 2002;111(3):285-8.
2002: Tomohiko Kayashima; Masahito Katahira; Naoki Harada; Nobutomo Miwa; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Yoshibumi Nakane; Yusuke Nakamura; Tadashi Kajii; Norio Niikawa; Tatsuya Kishino
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
American journal of medical genetics 2002;111(1):38-42.
2002: Takahiro Yamada; Tomohiko Kayashima; Kentaro Yamasaki; Tohru Ohta; Naomichi Matsumoto; Seiichiro Fujimoto; Norio Niikawa; Koh-ichiro Yoshiura; Tatsuya Kishino
The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.
Gene 2002;288(1-2):57-63.
2002: Yukio Watanabe; Akira Kinoshita; Takahiro Yamada; Tohru Ohta; Tatsuya Kishino; Naomichi Matsumoto; Mutsuo Ishikawa; Norio Niikawa; Koh-ichiro Yoshiura
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.
Journal of human genetics 2002;47(9):478-83.
2002: Kazuki Komatsu; Nobukatsu Nakamura; Mohsen Ghadami; Naomichi Matsumoto; Tatsuya Kishino; Tohru Ohta; Norio Niikawa; Koh-ichiro Yoshiura
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
Journal of human genetics 2002;47(8):395-9.
2002: Shinji Kondoh; Hirobumi Sugawara; Naoki Harada; Naomichi Matsumoto; Hirofumi Ohashi; Masato Sato; Piranit N Kantaputra; Toshihiko Ogino; Hiroaki Tomita; Tohru Ohta; Tatsuya Kishino; Yoshimitsu Fukushima; Norio Niikawa; Koh-ichiro Yoshiura
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
Journal of human genetics 2002;47(3):136-9.
2002: Tomohiko Kayashima; Hidenori Matsuo; Akira Satoh; Tohru Ohta; Koh-ichiro Yoshiura; Naomichi Matsumoto; Yoshibumi Nakane; Norio Niikawa; Tatsuya Kishino
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Journal of human genetics 2002;47(2):77-9.
2001: Naohiro Kurotaki; Naoki Harada; Koh-ichiro Yoshiura; S Sugano; Norio Niikawa; Naomichi Matsumoto
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.
Gene 2001;279(2):197-204.
2001: Mohsen Ghadami; Keyvan Majidzadeh-A; B S Haerian; Elia Damavandi; Koki Yamada; P Pasallar; Mohammad-Taghi Najafi; Gen Nishimura; H a Tomita; Koh-ichiro Yoshiura; Norio Niikawa
Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.
American journal of medical genetics 2001;104(2):147-51.
2000: Akira Kinoshita; T Saito; H a Tomita; Yoshio Makita; K Yoshida; Mohsen Ghadami; Koki Yamada; S Kondo; Shiro Ikegawa; Gen Nishimura; Yoshimitsu Fukushima; T Nakagomi; H Saito; T Sugimoto; M Kamegaya; K Hisa; J C Murray; N Taniguchi; Norio Niikawa; Koh-ichiro Yoshiura
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Nature genetics 2000;26(1):19-20.
2000: Koki Yamada; H a Tomita; Koh-ichiro Yoshiura; S Kondo; K Wakui; Yoshimitsu Fukushima; Shiro Ikegawa; Y Nakamura; T Amemiya; Norio Niikawa
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
European journal of human genetics : EJHG 2000;8(7):535-9.
2000: Koh-ichiro Yoshiura; Norio Niikawa
[Jarcho-Levin syndrome].
Ryōikibetsu shōkōgun shirīzu 2000;(30 Pt 5):196-7.
1999: Junichiro Machida; Koh-ichiro Yoshiura; C D Funkhauser; Nagato Natsume; T Kawai; Jeffrey C Murray
Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only.
Genomics 1999;61(3):237-42.
1998: M Nakano; Koh-ichiro Yoshiura; M Oikawa; O Miyoshi; K Yamada; S Kondo; N Miwa; E Soeda; Yoshihiro Jinno; T Fujii; Norio Niikawa
Identification, characterization and mapping of the human ZIS (zinc-finger, splicing) gene.
Gene 1998;225(1-2):59-65.
1998: Koh-ichiro Yoshiura; Junichiro Machida; Sandra Daack-Hirsch; Shivanand R Patil; L K Ashworth; J T Hecht; Jeffrey C Murray
Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.
Genomics 1998;54(2):231-40.
1998: Koh-ichiro Yoshiura; NJ Leysens; Rebecca S Reiter; Jeffrey C Murray
Cloning, characterization, and mapping of the mouse homeobox gene Hmx1.
Genomics 1998;50(1):61-8.
1997: Koh-ichiro Yoshiura; NJ Leysens; J Chang; D Ward; Jeffrey C Murray; M Muenke
Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes.
American journal of medical genetics 1997;72(3):354-62.
1997: Koh-ichiro Yoshiura; Jeffrey C Murray
Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia.
Genomics 1997;45(2):425-8.
1997: Hidenobu Soejima; M Fujimoto; K Tsukamoto; Naomichi Matsumoto; Koh-ichiro Yoshiura; Yoshimitsu Fukushima; Yoshihiro Jinno; Norio Niikawa
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
Human mutation 1997;9(2):177-80.