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A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 625, doi. 10.1007/s00439-007-0354-y
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- Article
A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
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- Human Genetics, 2006, v. 119, n. 6, p. 611, doi. 10.1007/s00439-006-0170-9
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- Article
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 477, doi. 10.1007/s00439-005-0074-0
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- Article
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
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- Human Genetics, 2005, v. 118, n. 2, p. 175, doi. 10.1007/s00439-005-0058-0
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- Article
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
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- Human Genetics, 2004, v. 114, n. 4, p. 345
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- Article
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
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- Human Genetics, 2003, v. 112, n. 1, p. 84, doi. 10.1007/s00439-002-0845-9
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- Publication type:
- Article
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
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- Human Genetics, 2003, v. 112, n. 1, p. 78, doi. 10.1007/s00439-002-0844-x
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- Article
Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon : is direct sequencing so reliable?
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- Human Genetics, 2002, v. 110, n. 6, p. 606, doi. 10.1007/s00439-002-0735-1
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- Article
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.
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- Journal of Human Genetics, 2013, v. 58, n. 6, p. 391, doi. 10.1038/jhg.2013.25
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- Article
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.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 109, doi. 10.1038/jhg.2012.145
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- Article
Identification of RB1CC1, a novel human gene that can induce RB1 in various human cells.
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- Oncogene, 2002, v. 21, n. 8, p. 1295, doi. 10.1038/sj.onc.1205178
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- Article
TRPV1 alleviates osteoarthritis by inhibiting M1 macrophage polarization via Ca2+/CaMKII/Nrf2 signaling pathway.
- Published in:
- Cell Death & Disease, 2021, v. 12, n. 6, p. 1, doi. 10.1038/s41419-021-03792-8
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- Publication type:
- Article
CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189591
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- Article
SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 2, p. 226, doi. 10.1002/jbmr.4462
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- Article
TNFRSF11A‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 10, p. 1873, doi. 10.1002/jbmr.3805
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- Article
Meta‐Analysis of Genome‐Wide Association Studies Identifies Three Loci Associated With Stiffness Index of the Calcaneus.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 7, p. 1275, doi. 10.1002/jbmr.3703
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- Article
Exome Sequencing in Monogenic Forms of Rickets.
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- Indian Journal of Pediatrics, 2023, v. 90, n. 12, p. 1182, doi. 10.1007/s12098-022-04393-9
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- Article
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
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- BMC Musculoskeletal Disorders, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12891-022-05719-6
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- Article
Genetic polymorphisms of interleukin-1β (−511C/T) and interleukin-1 receptor antagonist (86-bpVNTR) in susceptibility to knee osteoarthritis in a Chinese Han population.
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- Rheumatology International, 2009, v. 29, n. 11, p. 1301, doi. 10.1007/s00296-009-0848-0
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- Article
A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.
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- 2018
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- Publication type:
- journal article
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
- Published in:
- 2017
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- Publication type:
- journal article
Lumbar disc degeneration progression in young women in their 20's: A prospective ten-year follow up.
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- 2017
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- Publication type:
- journal article
Association Between Vitamin A Intake and Disease Severity in Early-Onset Heterotopic Ossification of the Posterior Longitudinal Ligament of the Spine.
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- Global Spine Journal, 2022, v. 12, n. 8, p. 1770, doi. 10.1177/2192568221989300
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- Article
SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese.
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- Journal of Human Genetics, 2012, v. 57, n. 4, p. 244, doi. 10.1038/jhg.2012.11
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- Article
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
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- Journal of Human Genetics, 2011, v. 56, n. 5, p. 398, doi. 10.1038/jhg.2011.28
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- Article
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.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 166, doi. 10.1038/jhg.2010.161
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- Article
SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 47, doi. 10.1038/jhg.2010.141
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- Publication type:
- Article
TRPV4-pathy, a novel channelopathy affecting diverse systems.
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- Journal of Human Genetics, 2010, v. 55, n. 7, p. 400, doi. 10.1038/jhg.2010.37
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- Article
Recent advances in association studies of osteoarthritis susceptibility genes.
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- Journal of Human Genetics, 2010, v. 55, n. 2, p. 77, doi. 10.1038/jhg.2009.137
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- Article
Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.
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- Journal of Human Genetics, 2008, v. 53, n. 8, p. 694, doi. 10.1007/s10038-008-0300-4
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- Article
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
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- Journal of Human Genetics, 2008, v. 53, n. 8, p. 764, doi. 10.1007/s10038-008-0305-z
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- Article
Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 419, doi. 10.1007/s10038-008-0265-3
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- Article
Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility.
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- Journal of Human Genetics, 2008, v. 53, n. 1, p. 42, doi. 10.1007/s10038-007-0216-4
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- Publication type:
- Article
Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population.
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- Journal of Human Genetics, 2007, v. 52, n. 8, p. 664, doi. 10.1007/s10038-007-0166-x
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- Article
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
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- Journal of Human Genetics, 2007, v. 52, n. 5, p. 473, doi. 10.1007/s10038-007-0128-3
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- Article
A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.
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- Journal of Human Genetics, 2007, v. 52, n. 3, p. 220, doi. 10.1007/s10038-006-0102-5
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- Article
Association study of COL9A2 with lumbar disc disease in the Japanese population.
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- Journal of Human Genetics, 2006, v. 51, n. 12, p. 1063, doi. 10.1007/s10038-006-0062-9
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- Article
Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese.
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- Journal of Human Genetics, 2006, v. 51, n. 12, p. 1068, doi. 10.1007/s10038-006-0065-6
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- Publication type:
- Article
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
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- Journal of Human Genetics, 2006, v. 51, n. 12, p. 1087, doi. 10.1007/s10038-006-0070-9
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- Publication type:
- Article
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 706, doi. 10.1007/s10038-006-0015-3
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- Publication type:
- Article
Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.
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- Journal of Human Genetics, 2006, v. 51, n. 7, p. 581, doi. 10.1007/s10038-006-0401-x
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- Publication type:
- Article
High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.
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- Journal of Human Genetics, 2006, v. 51, n. 2, p. 151, doi. 10.1007/s10038-005-0337-6
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- Publication type:
- Article
A pair of sibs with tibial hemimelia born to phenotypically normal parents.
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- Journal of Human Genetics, 2003, v. 48, n. 4, p. 173, doi. 10.1007/s10038-003-0003-9
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- Publication type:
- Article
Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP).
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- Journal of Human Genetics, 1999, v. 44, n. 3, p. 203, doi. 10.1007/s100380050143
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- Publication type:
- Article
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
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- Journal of Human Genetics, 1998, v. 43, n. 1, p. 32, doi. 10.1007/s100380050033
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- Publication type:
- Article
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 299, doi. 10.1093/hmg/ddu444
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- Article
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2313, doi. 10.1093/hmg/ddq092
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- Publication type:
- Article
Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.
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- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1518, doi. 10.1093/hmg/ddp053
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- Publication type:
- Article
Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 679, doi. 10.1093/hmg/ddn397
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- Article
A functional SNP in EDG2 increases susceptibility to knee osteoarthritis in Japanese.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1790, doi. 10.1093/hmg/ddn069
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- Publication type:
- Article