Shiro Ikegawa


Ontology type: schema:Person     


Person Info

NAME

Shiro

SURNAME

Ikegawa

Publications in SciGraph latest 50 shown

  • 2019-03 Identification of novel LFNG mutations in spondylocostal dysostosis in JOURNAL OF HUMAN GENETICS
  • 2019-01-14 TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model in GENETICS IN MEDICINE
  • 2018-12 An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis in SCIENTIFIC REPORTS
  • 2018-12 A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis in SCIENTIFIC REPORTS
  • 2018-12 Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report in BMC RESEARCH NOTES
  • 2018-10-11 Emergence of Zebrafish as a Model System for Understanding Human Scoliosis in ZEBRAFISH, MEDAKA, AND OTHER SMALL FISHES
  • 2018-09 Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification in JOURNAL OF HUMAN GENETICS
  • 2018-07 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease in HUMAN GENETICS
  • 2018-06 Dysosteosclerosis is also caused by TNFRSF11A mutation in JOURNAL OF HUMAN GENETICS
  • 2018-03 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases in NATURE GENETICS
  • 2018 Current Understanding of Genetic Factors in Idiopathic Scoliosis in THE GENETICS AND DEVELOPMENT OF SCOLIOSIS
  • 2017-12 Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head in SCIENTIFIC REPORTS
  • 2017-10-05 Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum in HUMAN GENOME VARIATION
  • 2017-10 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population in NATURE GENETICS
  • 2017-08 Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2017-04 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations in JOURNAL OF HUMAN GENETICS
  • 2017-03 Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2017-03 Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 in JOURNAL OF HUMAN GENETICS
  • 2016-12 Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families in HUMAN GENOME VARIATION
  • 2016-12 Genomic study of adolescent idiopathic scoliosis in Japan in SCOLIOSIS AND SPINAL DISORDERS
  • 2016-12 Identification of DNA methylation changes associated with disease progression in subchondral bone with site-matched cartilage in knee osteoarthritis in SCIENTIFIC REPORTS
  • 2016-12 A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity in HUMAN GENOME VARIATION
  • 2016-09 Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India in SCIENTIFIC REPORTS
  • 2015-12 rs11190870 is not associated with severity of adolescent idiopathic scoliosis in Japanese in SCOLIOSIS AND SPINAL DISORDERS
  • 2015-12 A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females in NATURE COMMUNICATIONS
  • 2015-12 A novel FOXC2 mutation in spinal extradural arachnoid cyst in HUMAN GENOME VARIATION
  • 2014-12 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12 De novo SOX11 mutations cause Coffin–Siris syndrome in NATURE COMMUNICATIONS
  • 2014-09 A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine in NATURE GENETICS
  • 2014-09 Statin treatment rescues FGFR3 skeletal dysplasia phenotypes in NATURE
  • 2014-03 Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose in SKELETAL RADIOLOGY
  • 2013-06 Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia in JOURNAL OF HUMAN GENETICS
  • 2013-06 Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis in NATURE GENETICS
  • 2013-03 A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2013-02 Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases in JOURNAL OF HUMAN GENETICS
  • 2013 TGF-β and Genetic Skeletal Diseases in TGF-Β IN HUMAN DISEASE
  • 2012-04 SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese in JOURNAL OF HUMAN GENETICS
  • 2011-12 A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis in NATURE GENETICS
  • 2011-06 ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type in MAMMALIAN GENOME
  • 2011-05 A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia in JOURNAL OF HUMAN GENETICS
  • 2011-05 Cloning and characterization of the osteoarthritis-associated gene DVWA in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2011-02 Association of the D repeat polymorphism in the ASPNgene with developmental dysplasia of the hip: a case-control study in Han Chinese in ARTHRITIS RESEARCH & THERAPY
  • 2011-02 Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers in JOURNAL OF HUMAN GENETICS
  • 2011-01 SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population in JOURNAL OF HUMAN GENETICS
  • 2011-01 Replication studies in various ethnic populations do not support the association of the HIF-2α SNP rs17039192 with knee osteoarthritis in NATURE MEDICINE
  • 2010-10 Prediction model for knee osteoarthritis based on genetic and clinical information in ARTHRITIS RESEARCH & THERAPY
  • 2010-09 Identification of sequence polymorphisms in CALM2 and analysis of association with hip osteoarthritis in a Japanese population in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2010-07 TRPV4-pathy, a novel channelopathy affecting diverse systems in JOURNAL OF HUMAN GENETICS
  • 2010-07 Binding characteristics of the osteoarthritis-associated protein asporin in JOURNAL OF BONE AND MINERAL METABOLISM
  • 2010-06 A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility in NATURE GENETICS
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