Search details
1.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341651
2.
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
Hum Mol Genet
; 27(22): 3986-3998, 2018 11 15.
Article
in English
| MEDLINE | ID: mdl-30395268
3.
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
J Med Genet
; 56(9): 622-628, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31015262
4.
A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.
Hum Mol Genet
; 26(20): 4086-4092, 2017 10 15.
Article
in English
| MEDLINE | ID: mdl-29016859
5.
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.
Am J Hum Genet
; 99(1): 202-7, 2016 07 07.
Article
in English
| MEDLINE | ID: mdl-27374772
6.
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.
J Hum Genet
; 64(5): 493-498, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30787423
7.
Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.
PLoS Genet
; 12(1): e1005802, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26820155
8.
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
Am J Hum Genet
; 97(2): 337-42, 2015 Aug 06.
Article
in English
| MEDLINE | ID: mdl-26211971
9.
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Hum Mutat
; 38(3): 317-323, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28054739
10.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
J Med Genet
; 53(3): 152-62, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26543203
11.
[Genome-wide association study for adolescent idiopathic scoliosis].
Clin Calcium
; 26(4): 553-60, 2016 Apr.
Article
in Japanese
| MEDLINE | ID: mdl-27013625
12.
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
J Med Genet
; 51(6): 401-6, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24721834
13.
Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.
J Med Genet
; 50(4): 212-9, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23349225
14.
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.
Nat Genet
; 37(2): 138-44, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15640800
15.
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.
J Hum Genet
; 58(2): 109-12, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23303384
16.
SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese.
J Hum Genet
; 57(4): 244-6, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22301463
17.
Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
Hum Mol Genet
; 18(4): 679-87, 2009 Feb 15.
Article
in English
| MEDLINE | ID: mdl-19064610
18.
Asporin expression is highly regulated in human chondrocytes.
Mol Med
; 17(7-8): 816-23, 2011.
Article
in English
| MEDLINE | ID: mdl-21528154
19.
Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use.
J Bone Miner Res
; 36(8): 1481-1491, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34159637
20.
Binding characteristics of the osteoarthritis-associated protein asporin.
J Bone Miner Metab
; 28(4): 395-402, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20052601