Norio Niikawa

Norio Niikawa

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Norio Niikawa

Publications by authors named "Norio Niikawa"

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Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 Feb 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 2019

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hum Biol 2017 10;89(4):305-307

1 Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, Japan.

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October 2017

KDM6A point mutations cause Kabuki syndrome.

Hum Mutat 2013 Jan 17;34(1):108-10. Epub 2012 Oct 17.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/humu.22229DOI Listing
January 2013

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Front Genet 2012 2;3:306. Epub 2013 Jan 2.

Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology Yokohama, Japan ; Omics Science Center, RIKEN Yokohama Institute Yokohama, Japan.

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http://dx.doi.org/10.3389/fgene.2012.00306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539816PMC
January 2013

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

Am J Med Genet A 2012 Aug 18;158A(8):1891-6. Epub 2012 Jun 18.

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35439DOI Listing
August 2012

Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.

Birth Defects Res A Clin Mol Teratol 2012 Jul 29;94(7):549-52. Epub 2012 May 29.

State Key Laboratory of Medical Genetics, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/bdra.23019DOI Listing
July 2012

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Pediatr Int 2012 Jun;54(3):e22-5

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1111/j.1442-200X.2011.03550.xDOI Listing
June 2012

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.

Eur J Med Genet 2010 Sep-Oct;53(5):244-9. Epub 2010 Jun 22.

Departments of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.007DOI Listing
January 2011

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.

Prenat Diagn 2010 Sep;30(9):849-61

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/pd.2570DOI Listing
September 2010

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Am J Med Genet A 2010 Sep;152A(9):2262-7

Department of Oral and Maxillofacial Surgery, Okazaki City Hospital, Okazaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33338DOI Listing
September 2010

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.

Hum Reprod 2010 Apr 6;25(4):1076-80. Epub 2010 Feb 6.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, Japan.

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http://dx.doi.org/10.1093/humrep/deq006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560031PMC
April 2010

A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.

J Hum Genet 2010 Feb 15;55(2):124-6. Epub 2010 Jan 15.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan.

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http://dx.doi.org/10.1038/jhg.2009.131DOI Listing
February 2010

Mapping human genetic diversity in Asia.

Science 2009 Dec;326(5959):1541-5

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http://dx.doi.org/10.1126/science.1177074DOI Listing
December 2009

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.

BMC Genet 2009 Aug 4;10:42. Epub 2009 Aug 4.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1186/1471-2156-10-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731057PMC
August 2009

Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?

FASEB J 2009 Jun 21;23(6):2001-13. Epub 2009 Apr 21.

Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, 4259-B-60 Nagatsuta, Midori-ku, Yokohama 226-8501, Japan.

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http://www.fasebj.org/content/23/6/2001.full.pdf
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http://dx.doi.org/10.1096/fj.09-129098DOI Listing
June 2009

Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.

Gene 2009 Mar 27;432(1-2):97-101. Epub 2008 Nov 27.

Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

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http://dx.doi.org/10.1016/j.gene.2008.11.019DOI Listing
March 2009

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

Am J Med Genet A 2009 Feb;149A(4):785-7

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32335DOI Listing
February 2009

A ZRS duplication causes syndactyly type IV with tibial hypoplasia.

Am J Med Genet A 2009 Feb;149A(4):816-8

National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.

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http://doi.wiley.com/10.1002/ajmg.a.32740
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http://dx.doi.org/10.1002/ajmg.a.32740DOI Listing
February 2009

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.

J Hum Genet 2008 7;53(10):914-9. Epub 2008 Aug 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10038-008-0327-6DOI Listing
November 2008

Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy.

Prenat Diagn 2008 Sep;28(9):805-9

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/pd.2056DOI Listing
September 2008

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Am J Med Genet A 2008 Jul;146A(14):1893-6

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32382DOI Listing
July 2008

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.

J Hum Genet 2008 7;53(1):34-41. Epub 2007 Nov 7.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki, 852-8523, Japan.

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http://dx.doi.org/10.1007/s10038-007-0214-6DOI Listing
May 2008

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

Am J Med Genet A 2008 Mar;146A(6):791-4

National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/ajmg.a.32221DOI Listing
March 2008

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

Am J Med Genet A 2008 Jan;146A(1):124-7

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31974DOI Listing
January 2008

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/In
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http://www.nature.com/doifinder/10.1038/nature06258
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http://dx.doi.org/10.1038/nature06258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/Le
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http://www.nature.com/doifinder/10.1038/nature06250
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http://dx.doi.org/10.1038/nature06250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

Acrodysostosis with unusual iridal color changing with age.

Am J Med Genet B Neuropsychiatr Genet 2007 Sep;144B(6):824-5

Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan.

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http://dx.doi.org/10.1002/ajmg.b.30492DOI Listing
September 2007

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

Am J Hum Genet 2007 Sep 27;81(3):596-606. Epub 2007 Jul 27.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1086/519980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950844PMC
September 2007

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

J Hum Genet 2007 19;52(6):492-7. Epub 2007 Apr 19.

National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.

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http://dx.doi.org/10.1007/s10038-007-0139-0DOI Listing
July 2007

A syndactyly type IV locus maps to 7q36.

J Hum Genet 2007 3;52(6):561-4. Epub 2007 May 3.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, and Women and Children's Hospital of Hunan Province, Changsha, China.

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http://dx.doi.org/10.1007/s10038-007-0150-5DOI Listing
July 2007

A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.

Hum Genet 2007 Jun 30;121(5):631-3. Epub 2007 Mar 30.

Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.

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http://link.springer.com/10.1007/s00439-007-0356-9
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http://dx.doi.org/10.1007/s00439-007-0356-9DOI Listing
June 2007

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

Am J Med Genet A 2007 Jan;143A(1):98-101

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31550DOI Listing
January 2007

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

J Hum Genet 2006 9;51(6):533-40. Epub 2006 May 9.

Department of Obstetrics and Gynecology, Asahikawa Medical College, 2-1-1-1 Midorigaokahigashi, Asahikawa, 078-8510, Japan.

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http://dx.doi.org/10.1007/s10038-006-0394-5DOI Listing
September 2006

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

Am J Med Genet A 2006 Sep;140(18):1931-5

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31421DOI Listing
September 2006

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions.

Epilepsy Res 2006 Aug 9;70 Suppl 1:S174-84. Epub 2006 Aug 9.

Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.1016/j.eplepsyres.2006.02.009DOI Listing
August 2006

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.

J Hum Genet 2005 20;50(9):483-9. Epub 2005 Sep 20.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-005-0282-4
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http://dx.doi.org/10.1007/s10038-005-0282-4DOI Listing
May 2006

A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.

Cleft Palate Craniofac J 2006 May;43(3):310-6

The Second Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan.

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http://dx.doi.org/10.1597/04-145.1DOI Listing
May 2006

[Cerebral gigantism].

Authors:
Norio Niikawa

Nihon Rinsho 2006 May;Suppl 1:224-7

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences.

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May 2006

Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.

J Hum Genet 2006 21;51(3):236-43. Epub 2006 Jan 21.

Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.

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http://dx.doi.org/10.1007/s10038-005-0351-8DOI Listing
April 2006

Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype.

J Hum Genet 2006 27;51(1):15-20. Epub 2005 Oct 27.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1007/s10038-005-0314-0DOI Listing
March 2006

Primary palmar hyperhidrosis locus maps to 14q11.2-q13.

Am J Med Genet A 2006 Mar;140(6):567-72

Department of Anesthesiology, Faculty of Medicine, Saga University, Nabeshima, Saga, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.31127
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http://dx.doi.org/10.1002/ajmg.a.31127DOI Listing
March 2006

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

Am J Med Genet A 2006 Feb;140(3):238-44

National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China.

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http://dx.doi.org/10.1002/ajmg.a.31077DOI Listing
February 2006

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

Am J Med Genet A 2006 Feb;140(4):373-7

Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31094DOI Listing
February 2006

[Analyses of genetic factors in osteoporosis].

Tanpakushitsu Kakusan Koso 2005 Dec;50(16 Suppl):2109-14

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December 2005

[Positional cloning of disease gene].

Nihon Rinsho 2005 Dec;63 Suppl 12:421-6

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences.

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December 2005

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.

Brain Dev 2005 Aug;27(5):389-91

Department of Pediatrics, Graduate School of Medicine, Hokkaido University, N-15, W-7, Sapporo 060-8638, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040500040
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http://dx.doi.org/10.1016/j.braindev.2003.12.013DOI Listing
August 2005

Clinical applications of plasma circulating mRNA analysis in cases of gestational trophoblastic disease.

Clin Chem 2005 Jul 28;51(7):1261-3. Epub 2005 Apr 28.

Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2005.050666
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http://dx.doi.org/10.1373/clinchem.2005.050666DOI Listing
July 2005

Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.

Mol Vis 2005 Jul 19;11:535-41. Epub 2005 Jul 19.

Department of Ophthalmology, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan.

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July 2005

Molecular basis of Sotos syndrome.

Authors:
Norio Niikawa

Horm Res 2004 ;62 Suppl 3:60-5

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1159/000080501DOI Listing
June 2005

Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?

J Hum Genet 2005 15;50(1):1-6. Epub 2004 Dec 15.

Department of Obstetrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1007/s10038-004-0216-6DOI Listing
March 2005

[Protective management for genetic information].

Authors:
Norio Niikawa

Nihon Rinsho 2005 Mar;63(3):383-8

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences.

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March 2005

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.

Am J Med Genet A 2005 Feb;133A(1):13-7

First Department of Internal Medicine, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan.

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http://dx.doi.org/10.1002/ajmg.a.30510DOI Listing
February 2005

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

Hum Mol Genet 2005 Feb 7;14(4):535-42. Epub 2005 Jan 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://hmg.oxfordjournals.org/content/14/4/535.full.pdf
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http://www.hmg.oupjournals.org/cgi/doi/10.1093/hmg/ddi050
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http://dx.doi.org/10.1093/hmg/ddi050DOI Listing
February 2005

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

Am J Hum Genet 2005 Jan 16;76(1):52-67. Epub 2004 Nov 16.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1086/426950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196433PMC
January 2005

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

J Hum Genet 2004 16;49(8):440-4. Epub 2004 Jul 16.

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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http://dx.doi.org/10.1007/s10038-004-0166-zDOI Listing
October 2004

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

J Hum Genet 2004 ;49(5):282-4

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

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http://dx.doi.org/10.1007/s10038-004-0144-5DOI Listing
October 2004

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004 Oct;98(4):414-7

Department of Oral and Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Japan.

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http://dx.doi.org/10.1016/j.tripleo.2003.12.034DOI Listing
October 2004