Genetic analysis of skeletal dysplasia : recent advances and perspectives in the post-genome-sequence era
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2006-07-01
著者
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IKEGAWA Shiro
Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN
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Ikegawa Shiro
Laboratory For Bone And Joint Diseases Snp Research Center Riken
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Ikegawa Shiro
Laboratory For Bone And Joint Disease Snp Research Center Riken Institute Of Medical Science Univers
関連論文
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- Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility
- A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction
- Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction
- Genetic analysis of osteoarthritis : toward identification of its susceptibility genes
- A pair of sibs with tibial hemimelia born to phenotypically normal parents
- Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis
- High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis
- Clinical and Genetic Analyses of Presumed Shwachman-Diamond Syndrome in Japan
- Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints
- Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP)
- 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
- Association study of COL9A2 with lumbar disc disease in the Japanese population
- Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
- Spontaneous regression of aleukemic leukemia cutis harboring a NPM/RARA fusion gene in an infant with cutaneous mastosytosis
- Non-Hodgkin's Lymphoma of the Ascending Colon in a Patient with Becker Muscular Dystrophy : Report of a Case
- Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population
- Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese
- DINUCLEOTIDE REPEAT POLYMORPHISM ON CHROMOSOME 9q32
- Genetic analysis of skeletal dysplasia : recent advances and perspectives in the post-genome-sequence era
- Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes
- Advanced malignant solitary fibrous tumor in pelvis responding to radiation therapy
- Localized malignant mesenteric mesothelioma causing small bowel obstruction
- Binding characteristics of the osteoarthritis-associated protein asporin
- Identification of sequence polymorphisms in CALM2 and analysis of association with hip osteoarthritis in a Japanese population
- Cloning and characterization of the osteoarthritis-associated gene DVWA
- Case-control association study between lumbar disc herniation
- SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population
- SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese
- A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
- 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
- TRPV4-pathy, a novel channelopathy affecting diverse systems
- Recent advances in association studies of osteoarthritis susceptibility genes
- 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
- A Replication Study for Association of 5 Single Nucleotide Polymorphisms With Curve Progression of Adolescent Idiopathic Scoliosis in Japanese Patients
- A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia