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Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population.
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- Journal of Personalized Medicine, 2023, v. 13, n. 1, p. 32, doi. 10.3390/jpm13010032
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- Article
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.
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- Clinical Genetics, 1999, v. 55, n. 6, p. 466, doi. 10.1034/j.1399-0004.1999.550612.x
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- Article
A longitudinal population-based study identifies THBS2 as a susceptibility gene for intervertebral disc degeneration.
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- European Spine Journal, 2024, v. 33, n. 9, p. 3334, doi. 10.1007/s00586-024-08152-6
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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
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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- 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
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 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
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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- 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
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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- 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
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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- 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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- 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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- 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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- 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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- 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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- 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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- Article
Identification of a de novo PUF60 variant associated with craniofacial microsomia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63631
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- Article
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 735, doi. 10.1002/ajmg.a.61469
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- Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
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- Article
Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2212, doi. 10.1002/ajmg.a.37744
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- Article
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 460, doi. 10.1002/ajmg.a.37426
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- Article
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2398, doi. 10.1002/ajmg.a.36648
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- Article
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2147, doi. 10.1002/ajmg.a.36632
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- Article
Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1972, doi. 10.1002/ajmg.a.36024
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- Article
Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2969, doi. 10.1002/ajmg.a.35602
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- Article
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268
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- Article
Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2669, doi. 10.1002/ajmg.a.34246
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- Article
Sequence Analysis of a Total of Three Megabases of DNA in Two Regions of Chromosome 8p.
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- DNA Research, 1999, v. 6, n. 6, p. 387, doi. 10.1093/dnares/6.6.387
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- Article
Association Analysis of Single Nucleotide Polymorphisms in Cartilage-Specific Collagen Genes With Knee and Hip Osteoarthritis in the Japanese Population.
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- Journal of Bone & Mineral Research, 2002, v. 17, n. 7, p. 1290, doi. 10.1359/jbmr.2002.17.7.1290
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- Article
Nucleotide Pyrophosphatase Gene Polymorphism Associated With Ossification of the Posterior Longitudinal Ligament of the Spine.
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- Journal of Bone & Mineral Research, 2002, v. 17, n. 1, p. 138, doi. 10.1359/jbmr.2002.17.1.138
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- Article
Replication studies in various ethnic populations do not support the association of the HIF-2α SNP rs17039192 with knee osteoarthritis.
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- 2011
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- Letter
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
- Published in:
- Nature Medicine, 2007, v. 13, n. 11, p. 1363, doi. 10.1038/nm1655
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- Article
Carminerin contributes to chondrocyte calcification during endochondral ossification.
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- Nature Medicine, 2006, v. 12, n. 6, p. 665, doi. 10.1038/nm1409
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- Article
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
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- Nature Genetics, 2010, v. 42, n. 6, p. 515, doi. 10.1038/ng.583
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- Article
SNPs in BRAP associated with risk of myocardial infarction in Asian populations.
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- Nature Genetics, 2009, v. 41, n. 3, p. 329, doi. 10.1038/ng.326
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- Article
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
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- Nature Genetics, 2008, v. 40, n. 8, p. 999, doi. 10.1038/ng.166
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- Article
Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis.
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- Nature Genetics, 2008, v. 40, n. 8, p. 994, doi. 10.1038/ng.176
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- Article
A functional polymorphism in the 5′ UTR of GDF5 is associated with susceptibility to osteoarthritis.
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- Nature Genetics, 2007, v. 39, n. 4, p. 529, doi. 10.1038/2005
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- Article
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population.
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- Nature Genetics, 2006, v. 38, n. 8, p. 921, doi. 10.1038/ng1846
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- Article