177 results on '"Mabuchi, Akihiko"'
Search Results
2. Development of a novel microarray data analysis tool without normalization for genotyping degraded forensic DNA
3. Practical forensic use of kinship determination using high-density SNP profiling based on a microarray platform, focusing on low-quantity DNA
4. Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy
5. Non-monotonic relationships between arsenic and selenium excretion and its implication on arsenic methylation pattern in a Bangladeshi population
6. Transcriptional regulation of endochondral ossification by HIF-2α during skeletal growth and osteoarthritis development
7. Prevalence of knee osteoarthritis, lumbar spondylosis, and osteoporosis in Japanese men and women: the research on osteoarthritis/osteoporosis against disability study
8. Cumulative incidence and changes in the prevalence of vertebral fractures in a rural Japanese community: a 10-year follow-up of the Miyama cohort
9. Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 1 3q
10. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
11. A pair of sibs with tibial hemimelia born to phenotypically normal parents
12. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia
13. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
14. Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects
15. Nonself-centering Bateman bipolar endoprosthesis for nontraumatic osteonecrosis of the femoral head: a 12- to 18-year follow-up study
16. Ten-year follow-up of a proximal circumferential porous-coated femoral prosthesis: radiographic evaluation and stability
17. Long-term results of rotational acetabular osteotomy in patients with slight narrowing of the joint space on preoperative radiographic findings
18. C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes
19. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
20. Association of Occupational Activity With Radiographic Knee Osteoarthritis and Lumbar Spondylosis in Elderly Patients of Population-Based Cohorts: A Large-Scale Population-Based Study
21. Genetic analysis of osteoarthritis: toward identification of its susceptibility genes
22. Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia
23. A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese
24. Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon : is direct sequencing so reliable?
25. The Combination of SOX5, SOX6, and SOX9 (the SOX Trio) Provides Signals Sufficient for Induction of Permanent Cartilage
26. Analysis of Single-Nucleotide Polymorphisms in Japanese Rheumatoid Arthritis Patients Shows Additional Susceptibility Markers Besides the Classic Shared Epitope Susceptibility Sequences
27. Saito et al. reply
28. High-density Association Mapping and Interaction Analysis of PLA2R1 and HLA Regions with Idiopathic Membranous Nephropathy in Japanese
29. Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis
30. Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
31. Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
32. Common Variants on Chromosome 9p21 Are Associated with Normal Tension Glaucoma
33. C/EBPβ and RUNX2 cooperate to degrade cartilage with MMP-13 as the target and HIF-2α as the inducer in chondrocytes
34. Common variation in GPC5 is associated with acquired nephrotic syndrome
35. Reply to: "Lack of HIF-2α in limb bud mesenchyme causes a modest and transient delay of endochondral bone development" and "Replication studies in various ethnic populations do not support the association of the HIF-2α SNP rs17039192 with knee osteoarthritis"
36. Association of HLA-A, -B, and -DRB1 with pulmonary tuberculosis in western Javanese Indonesia
37. A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis
38. NovelCOL9A3 mutation in a family with multiple epiphyseal dysplasia
39. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis
40. Mutation in the von Willebrand factor-A domain is not a prerequisite for theMATN3 mutation in multiple epiphyseal dysplasia
41. Novel and recurrent exon 13 mutations ofCOMPin pseudoachondroplasia
42. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
43. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations
44. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia
45. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis
46. RMRP mutations in Japanese patients with cartilage‐hair hypoplasia
47. Identification and characterization of the human long form of Sox5 (L-SOX5) gene
48. Association Analysis of Single Nucleotide Polymorphisms in Cartilage‐Specific Collagen Genes With Knee and Hip Osteoarthritis in the Japanese Population
49. Isolation, characterization and mapping of the mouse and human RB1CC1 genes
50. Nucleotide Pyrophosphatase Gene Polymorphism Associated With Ossification of the Posterior Longitudinal Ligament of the Spine
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