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Author Details
Full Name
Ichiro Matsuda
Affiliation
Health Sciences University of Hokkaido
ORCID
Career Start Year
1959
Papers
488
H Index
49
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
26197777
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Clin Exp Nephrol
2016
20976905
[Ethical, legal and social implication of genetic testing].
Nihon Rinsho
2010
20811451
Integrating common and rare genetic variation in diverse human populations.
Nature
2010
18580047
Curvature of cervical vertebra in 8020 achievers observed by lateral cephalogram.
Bull Tokyo Dent Coll
2008
17575464
Community engagement and informed consent in the International HapMap project.
Community Genet
2007
17943131
Genome-wide detection and characterization of positive selection in human populations.
Nature
2007
17943122
A second generation human haplotype map of over 3.1 million SNPs.
Nature
2007
16924152
Oral flora in independent over 80-year-olds with more than 20 teeth.
Bull Tokyo Dent Coll
2006
16773781
[Biomedical ethics in molecular medicine].
No To Hattatsu
2006
16416765
[Ethical, legal and social implication of genetic testing].
Nihon Rinsho
2005
15173438
Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood.
J Nutr
2004
15906693
Bioethical considerations in neonatal screening: Japanese experiences.
Southeast Asian J Trop Med Public Health
2003
17117541
Genetic health care services, present and near future in Japan.
Eubios J Asian Int Bioeth
2003
12013997
[Ornithine transcarbamylase deficiency].
Nihon Rinsho
2002
12421255
Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia.
Pediatr Int
2002
11197859
[Perspectives on postgenome medicine: Inborn error of metabolism].
Nihon Rinsho
2001
24383685
Molecular and cellular analyses of HLA class II-associated susceptibility to autoimmune diseases in the Japanese population.
Mod Rheumatol
2001
11310587
Guidelines for genetic testing. The Japan Society of Human Genetics, Council Committee of Ethics.
J Hum Genet
2001
11668614
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Hum Mutat
2001
11159935
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Hum Mol Genet
2001
10665936
A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice.
J Am Soc Nephrol
2000
12528736
Prenatal genetic testing in Japan.
Community Genet
2000
10914676
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Hum Genet
2000
10891562
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
Int J Mol Med
2000
10982191
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Hum Genet
2000
11073718
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
Mol Genet Metab
2000
11071380
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
Hum Genet
2000
10622469
Expression of Fas-Fas ligand in murine testis.
Am J Reprod Immunol
1999
10411937
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
Proc Natl Acad Sci U S A
1999
10431123
The long-term prognosis of congenital portosystemic venous shunt.
J Pediatr
1999
10336172
Immunohistochemical determination of the Wilson Copper-transporting P-type ATPase in the brain tissues of the rat.
Neurosci Lett
1999
10330344
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Am J Hum Genet
1999
9893114
Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria.
Kidney Int
1999
10626592
Bioethical issues in newborn mass screening: experiences in Japan.
Acta Paediatr Suppl
1999
9856484
Drug-selected complete restoration of superoxide generation in Epstein-Barr virus-transformed B cells from p47phox-deficient chronic granulomatous disease patients by using a bicistronic retrovirus vector encoding a human multi-drug resistance gene (MDR1) and the p47phox gene.
Hum Genet
1998
9452024
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Hum Mutat
1998
9893457
[Standard versus long-term prednisolone with sairei-to for initial therapy in childhood steroid-responsive nephrotic syndrome: a prospective controlled study].
Nihon Jinzo Gakkai Shi
1998
9990509
Human ubiquitin-protein ligase Nedd4: expression, subcellular localization and selective interaction with ubiquitin-conjugating enzymes.
Genes Cells
1998
9655354
Developmental changes in carbonic anhydrase II in the rat kidney.
Pediatr Nephrol
1998
9500710
Intracellular distribution of the Wilson's disease gene product (ATPase7B) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson's disease.
Hepatology
1998
9590028
[Maple syrup urine disease].
Ryoikibetsu Shokogun Shirizu
1998
9590022
[Arginase deficiency].
Ryoikibetsu Shokogun Shirizu
1998
9590019
[Ornithine transcarbamylase deficiency (OTCD)].
Ryoikibetsu Shokogun Shirizu
1998
9590002
[Inborn error of amino acids metabolism--general aspect].
Ryoikibetsu Shokogun Shirizu
1998
9632163
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
Am J Med Genet
1998
9627918
Zinc status relates to hematological deficits in middle-aged women.
J Am Coll Nutr
1998
9578960
Predominance of large low density lipoprotein particles and lower fractional esterification rate of cholesterol in high density lipoprotein in children with insulin-dependent diabetes mellitus.
Eur J Pediatr
1998
9622275
Comparison of children and coronary heart disease patients with low high density lipoprotein cholesterol levels.
Atherosclerosis
1998
9621512
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
J Hum Genet
1998
9757911
Characterization of self-glutamic acid decarboxylase 65-reactive CD4+ T-cell clones established from Japanese patients with insulin-dependent diabetes mellitus.
Hum Immunol
1998
1 - 50 of 488
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row(s) 1 - 30 of 30
Collaborators
Norio Niikawa
Health Sciences University of Hokkaido
Co-authored papers
12
Yoshimitsu Fukushima
Nippon Medical School
Co-authored papers
5
Charmaine D M Royal
Duke University
Co-authored papers
4
Clement Adebamowo
Institute for Human Virology
Co-authored papers
4
Jean E McEwen
National Human Genome Research Institute, National Institutes of Health
Co-authored papers
4
Vivian Ota Wang
National Human Genome Research Institute, National Institutes of Health
Co-authored papers
4
Patricia A Marshall
Case Western Reserve University
Co-authored papers
4
Charles N Rotimi
Center for Research on Genomics and Global Health, National Institutes of Health
Co-authored papers
4
Changqing Zeng
Institute of Biomedical Sciences, Henan Academy of Sciences
Co-authored papers
4
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers
3
Rhian Gwilliam
The Wellcome Trust Sanger Institute
Co-authored papers
3
Andy Peiffer
University of Utah, Inc.
Co-authored papers
3
Chibuzor Nkwodimmah
University of Ibadan
Co-authored papers
3
Morris W Foster
Department of Political Science Duke University 279 Gross Hall
Co-authored papers
3
Donna M Muzny
Baylor College of Medicine
Co-authored papers
3
Paul I W de Bakker
Vertex Pharmaceuticals
Co-authored papers
3
Huy Nguyen
The University of Danang-University of Science and Technology
Co-authored papers
3
Fuli Yu
East China University of Science and Technology
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3
Melissa Parkin
The Broad Institute of MIT and Harvard
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3
Pamela Whittaker
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3
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