Yoshimitsu Fukushima

Yoshimitsu Fukushima

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Yoshimitsu Fukushima

Publications by authors named "Yoshimitsu Fukushima"

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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Am J Med Genet A 2019 Jun 2;179(6):948-957. Epub 2019 Apr 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61142DOI Listing
June 2019

Feasibility of myocardial flow reserve prediction without the use of dynamic data from myocardial perfusion positron emission tomography.

Int J Cardiovasc Imaging 2018 Aug 19;34(8):1323-1329. Epub 2018 Mar 19.

Department of Radiology, Nippon Medical School Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1007/s10554-018-1335-zDOI Listing
August 2018

Diagnostic performance of hybrid cardiac SPECT/CT imaging for patients with takotsubo cardiomyopathy.

Eur J Hybrid Imaging 2018 5;2(1). Epub 2018 Mar 5.

2Department of Cardiovascular Medicine, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi, Bunkyo-ward, Tokyo, 113-0022 Japan.

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http://dx.doi.org/10.1186/s41824-017-0023-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954745PMC
March 2018

Feasibility of combined risk stratification with coronary CT angiography and stress myocardial SPECT in patients with chronic coronary artery disease.

Ann Nucl Med 2018 Jan 6;32(1):22-33. Epub 2017 Oct 6.

Department of Radiology, Graduate School of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan.

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http://dx.doi.org/10.1007/s12149-017-1214-zDOI Listing
January 2018

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Eur J Med Genet 2017 Oct 12;60(10):521-526. Epub 2017 Jul 12.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.008DOI Listing
October 2017

A novel frameshift mutation of in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Hum Genome Var 2017 26;4:17052. Epub 2017 Oct 26.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/hgv.2017.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760PMC
October 2017

Prognostic value of lower limb perfusion single-photon emission computed tomography-computed tomography in patients with lower limb atherosclerotic peripheral artery disease.

Jpn J Radiol 2017 Feb 21;35(2):68-77. Epub 2016 Nov 21.

Department of Cardiovascular Medicine, Faculty of Medicine, Toho University, 6-11-1, Omorinishi, Ota, Tokyo, 143-8541, Japan.

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http://dx.doi.org/10.1007/s11604-016-0602-yDOI Listing
February 2017

[Genetic Counseling of HBOC and Japanese Organization of HBOC].

Gan To Kagaku Ryoho 2017 Feb;44(2):107-110

Dept. of Medical Genetics, Shinshu University School of Medicine.

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February 2017

Prognostic Value of Myocardial Perfusion SPECT After Intravenous Bolus Administration of Nicorandil in Patients with Acute Ischemic Heart Failure.

J Nucl Med 2016 Mar 3;57(3):385-91. Epub 2015 Dec 3.

Department of Cardiovascular Medicine, Nippon Medical School Hospital, Tokyo, Japan.

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http://dx.doi.org/10.2967/jnumed.115.162420DOI Listing
March 2016

Imaging Angiogenesis Using 99mTc-Macroaggregated Albumin Scintigraphy in Patients with Peripheral Artery Disease.

J Nucl Med 2016 Feb 5;57(2):192-7. Epub 2015 Nov 5.

Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.

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http://dx.doi.org/10.2967/jnumed.115.160937DOI Listing
February 2016

Estimating Lymphodynamic Conditions and Lymphovenous Anastomosis Efficacy Using (99m)Tc-phytate Lymphoscintigraphy with SPECT-CT in Patients with Lower-limb Lymphedema.

Plast Reconstr Surg Glob Open 2015 May 5;3(5):e404. Epub 2015 Jun 5.

Department of Plastic, Reconstructive and Regenerative Surgery, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan; and Department of Clinical Radiology, Nippon Medical School, Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1097/GOX.0000000000000375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457267PMC
May 2015

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Am J Med Genet A 2015 Feb 25;167A(2):407-11. Epub 2014 Nov 25.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36842DOI Listing
February 2015

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.

Mol Cytogenet 2014 13;7:55. Epub 2014 Aug 13.

Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake 470-1192, Aichi, Japan.

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http://dx.doi.org/10.1186/s13039-014-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255720PMC
December 2014

A definitive diagnosis of mucosa-associated lymphoid tissue lymphoma made at a second biopsy.

J Nippon Med Sch 2013 ;80(6):475-80

Department of Ophthalmology, Nippon Medical School.

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http://dx.doi.org/10.1272/jnms.80.475DOI Listing
September 2014

Nuclear myocardial perfusion imaging with a cadmium-telluride semiconductor detector gamma camera in patients with acute myocardial infarction.

Ann Nucl Med 2014 Aug 31;28(7):646-55. Epub 2014 May 31.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ward, Tokyo, 113-8603, Japan,

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http://link.springer.com/10.1007/s12149-014-0859-0
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http://dx.doi.org/10.1007/s12149-014-0859-0DOI Listing
August 2014

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Am J Med Genet A 2014 May 24;164A(5):1272-6. Epub 2014 Mar 24.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.

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http://doi.wiley.com/10.1002/ajmg.a.36433
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http://dx.doi.org/10.1002/ajmg.a.36433DOI Listing
May 2014

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Am J Med Genet A 2014 Mar 19;164A(3):597-609. Epub 2013 Dec 19.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36308DOI Listing
March 2014

Surgical intervention for esophageal atresia in patients with trisomy 18.

Am J Med Genet A 2014 Feb 5;164A(2):324-30. Epub 2013 Dec 5.

Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan; Department of Medical Genetics, Shinshu University Graduate School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36294DOI Listing
February 2014

Significant suppression of myocardial (18)F-fluorodeoxyglucose uptake using 24-h carbohydrate restriction and a low-carbohydrate, high-fat diet.

J Cardiol 2013 Nov 26;62(5):314-9. Epub 2013 Jun 26.

Department of Radiology, Nippon Medical School, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jjcc.2013.05.004DOI Listing
November 2013

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.

J Hum Genet 2013 Aug 2;58(8):560-3. Epub 2013 May 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2013.34DOI Listing
August 2013

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Autism Res Treat 2012 16;2012:724072. Epub 2012 Jul 16.

Department of Medical Genetics, Graduate School of Medicine, University of The Ryukyus, 207 Uehara, Nishihara, Okinawa 903-0215, Japan.

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http://dx.doi.org/10.1155/2012/724072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420546PMC
August 2012

[Genetic medicine in diabetes: current status and the future].

Nihon Rinsho 2012 May;70 Suppl 3:801-5

Department of Medical Genetics, Shinshu University School of Medicine.

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May 2012

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Am J Med Genet A 2012 Feb 2;158A(2):412-6. Epub 2011 Dec 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34395DOI Listing
February 2012

Cerebral hemorrhage in Fabry's disease.

J Hum Genet 2010 Apr 19;55(4):259-61. Epub 2010 Mar 19.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/jhg.2010.18DOI Listing
April 2010

Unusual clinical and pathological presentation of a neuroendocrine tumor in a patient with multiple endocrine neoplasia type 1.

Endocr J 2009 30;56(7):887-95. Epub 2009 Jun 30.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1507/endocrj.k09e-126DOI Listing
January 2010

Familial neuroendocrine tumor syndromes: from genetics to clinical practice.

Pituitary 2006 ;9(3):231-6

Department of Preventive Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://dx.doi.org/10.1007/s11102-006-0268-zDOI Listing
June 2009

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Genet Test 2008 Dec;12(4):557-61

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://www.liebertpub.com/doi/10.1089/gte.2008.0048
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http://dx.doi.org/10.1089/gte.2008.0048DOI Listing
December 2008

Validation of fast-RAMLA in clinical PET.

Ann Nucl Med 2008 Dec 8;22(10):869-76. Epub 2009 Jan 8.

Department of Radiology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-0022, Japan.

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http://dx.doi.org/10.1007/s12149-008-0196-2DOI Listing
December 2008

[Basic information on medical genetics for internists (2)].

Nihon Naika Gakkai Zasshi 2008 Dec;97(12):3093-100

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http://dx.doi.org/10.2169/naika.97.3093DOI Listing
December 2008

[Basic knowledge in medical genetics for internists (1)].

Nihon Naika Gakkai Zasshi 2008 Nov;97(11):2832-7

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http://dx.doi.org/10.2169/naika.97.2832DOI Listing
November 2008

Facial angiofibroma as an initial manifestation in multiple endocrine neoplasia type 1.

Intern Med 2008 2;47(11):1067-8. Epub 2008 Jun 2.

Division of Clinical and Molecular Genetics, Shinshu University Hospital, Matsumoto.

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http://dx.doi.org/10.2169/internalmedicine.47.1127DOI Listing
July 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

Usefulness of 201TlCl/ 123I-BMIPP dual-myocardial SPECT for patients with non-ST segment elevation myocardial infarction.

Ann Nucl Med 2008 Jun 4;22(5):363-9. Epub 2008 Jul 4.

Department of Clinical Radiology, Nippon Medical School Graduate School of Medicine, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan.

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http://dx.doi.org/10.1007/s12149-007-0126-8DOI Listing
June 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

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

J Hum Genet 2007 5;52(8):675-9. Epub 2007 Jul 5.

Department of Neurology and Rheumatology, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-007-0170-1
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http://dx.doi.org/10.1007/s10038-007-0170-1DOI Listing
September 2007

Long-term follow-up of patients with multiple endocrine neoplasia type 1.

Endocr J 2007 Apr 20;54(2):295-302. Epub 2007 Mar 20.

Department of Aging Medicine and Geriatrics, Shinshu University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1507/endocrj.k06-147DOI Listing
April 2007

A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.

J Hum Genet 2007 8;52(2):179-90. Epub 2006 Dec 8.

Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1007/s10038-006-0092-3DOI Listing
March 2007

Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

Circ J 2007 Feb;71(2):261-5

Division of Clinical Genetics, Nippon Medical School Main Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1253/circj.71.261DOI Listing
February 2007

Clinical applications of ECG-gated myocardial perfusion SPECT.

J Nippon Med Sch 2006 Oct;73(5):248-57

Department of Clinical Radiology, Nippon Medical School Graduate School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1272/jnms.73.248DOI Listing
October 2006

[Beckwith-Wiedemann syndrome].

Nihon Rinsho 2006 Sep;Suppl 3:587-90

Department of Medical Genetics, Shinshu University School of Medicine.

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September 2006

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

J Hum Genet 2006 14;51(5):461-6. Epub 2006 Apr 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1007/s10038-006-0385-6DOI Listing
August 2006

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Am J Med Genet A 2006 Jul;140(14):1519-23

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31310DOI Listing
July 2006

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

Brain Dev 2006 Jun 10;28(5):322-5. Epub 2006 Jan 10.

Department of Medical Genetics, Shinshu University School of Medicine, Asahi 3-1-1, Matsumoto, 390-8621, Japan.

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http://dx.doi.org/10.1016/j.braindev.2005.09.005DOI Listing
June 2006

Novel 14 base-pair deletion of the MEN1 gene in a patient with recurrent primary hyperparathyroidism.

Jpn J Clin Oncol 2006 Jun 19;36(6):395-7. Epub 2006 May 19.

Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.

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http://dx.doi.org/10.1093/jjco/hyl023DOI Listing
June 2006

Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.

J Hum Genet 2006 24;51(4):335-40. Epub 2006 Feb 24.

Laboratory of Molecular and Cellular Biology, Department of Materials and Biosystem Engineering, Faculty of Engineering, Toyama University, 3190 Gofuku, Toyama 930-8555, Japan.

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http://www.nature.com/doifinder/10.1007/s10038-006-0365-x
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http://dx.doi.org/10.1007/s10038-006-0365-xDOI Listing
May 2006

Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment.

Am J Med Genet A 2006 May;140(9):937-44

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31175DOI Listing
May 2006

[Guidelines on genetic research and genetic testing].

Nihon Rinsho 2005 Dec;63 Suppl 12:9-15

Department of Medical Genetics, Shinshu University School of Medicine.

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December 2005

[Guidelines on clinical research of gene therapy].

Nihon Rinsho 2005 Dec;63 Suppl 12:475-6

Department of Medical Genetics,Shinshu University School of Medicine.

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December 2005