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Author Details

Norio Niikawa
Health Sciences University of Hokkaido
1972
417
65
PMIDPaper TitleJournal TitlePublished Year
36006853Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.Endocr Connect2022
30514738Kabuki syndrome: international consensus diagnostic criteria.J Med Genet2019
30047321A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.Hum Biol2017
25810209Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.Clin Genet2016
24425107Transforming growth factor beta1 (TGFβ1) polymorphisms and breast cancer risk.Tumour Biol2014
25064455Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.Cell Signal2014
23076834KDM6A point mutations cause Kabuki syndrome.Hum Mutat2013
23913813MLL2 and KDM6A mutations in patients with Kabuki syndrome.Am J Med Genet A2013
23637025Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.Am J Med Genet A2013
23316210Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.Front Genet2013
22426308Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.Nat Genet2012
23135232The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.J Hum Genet2012
22711443Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.Am J Med Genet A2012
22631585Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.Pediatr Int2012
22641563Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.Birth Defects Res A Clin Mol Teratol2012
22399141Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.J Hum Genet2012
21030093Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion.J Reprod Immunol2011
21852578Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.Proc Natl Acad Sci U S A2011
21671394Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.Am J Med Genet A2011
21312274Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.Mov Disord2011
21307866Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.J Hum Genet2011
21423094Down-regulation of ABCC11 protein (MRP8) in human breast cancer.Exp Oncol2011
21194678SMOC1 is essential for ocular and limb development in humans and mice.Am J Hum Genet2011
20075946A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12.J Hum Genet2010
20803643Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.Am J Med Genet A2010
20711175Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.Nat Genet2010
20665716The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.Prenat Diagn2010
20601259Familial 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 Genet2010
20139426A 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 Reprod2010
18642361Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.Am J Med Genet A2009
20007900Mapping human genetic diversity in Asia.Science2009
19650936A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene.BMC Genet2009
19343044Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.J Hum Genet2009
19383836Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?FASEB J2009
19095049Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.Gene2009
19208380A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.Am J Med Genet A2009
19291772A ZRS duplication causes syndactyly type IV with tibial hypoplasia.Am J Med Genet A2009
18074380A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.Am J Med Genet A2008
18824581Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA.Clin Chem2008
18553519No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.Am J Med Genet A2008
18593871Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.J Med Genet2008
18685808Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.J Hum Genet2008
18646248Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomy.Prenat Diagn2008
18247423Pre- and postnatal overgrowth in a patient with proximal 4p deletion.Am J Med Genet A2008
17987257Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.J Hum Genet2008
18049078De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.Clin Dysmorphol2008
17152063Angelman syndrome caused by an identical familial 1,487-kb deletion.Am J Med Genet A2007
17943131Genome-wide detection and characterization of positive selection in human populations.Nature2007
17943122A second generation human haplotype map of over 3.1 million SNPs.Nature2007
18023090NAT2 6A, a haplotype of the N-acetyltransferase 2 gene, is an important biomarker for risk of anti-tuberculosis drug-induced hepatotoxicity in Japanese patients with tuberculosis.World J Gastroenterol2007
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Collaborators

Nippon Medical School
Co-authored papers 51
Co-authored papers 13
Health Sciences University of Hokkaido
Co-authored papers 12
Co-authored papers 10
Co-authored papers 4
King Chulalongkorn Memorial Hospital, Chulalongkorn University
Co-authored papers 4
Fudan University
Co-authored papers 3
Foshan First People's Hospital
Co-authored papers 3
National Center for Global Health and Medicine
Co-authored papers 3
Japanese Foundation for Cancer Research
Co-authored papers 3
College of Agriculture, Guangxi University
Co-authored papers 3
University of Michigan ann arbor
Co-authored papers 3
Co-authored papers 2
Co-authored papers 2
University of Utah
Co-authored papers 2
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
McGill University
Co-authored papers 2
First Hospital of Xingtai
Co-authored papers 2
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 2
Wellcome Trust Sanger Institute
Co-authored papers 2
Adaptive Biotechnologies
Co-authored papers 2
Center for Statistical Genetics, Columbia University Medical Center
Co-authored papers 2
23andMe Inc.
Co-authored papers 2
Center for Cerebrovascular Research
Co-authored papers 2
University of Michigan School of Public Health ann arbor
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Beijing Institute of Genomics, Chinese Academy of Sciences
Co-authored papers 2
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Nanfang Hospital and Basic Medical College, Southern Medical University
Co-authored papers 2
McGill University Health Center
Co-authored papers 2
Co-authored papers 2