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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Zhao S, Zhang Y, Chen W, Li W, Wang S, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Zhao S, et al. Among authors: zhang n, zhang s, zhang f, zhang z, zhang j, zhang y. J Med Genet. 2021 Jan;58(1):41-47. doi: 10.1136/jmedgenet-2019-106823. Epub 2020 May 7. J Med Genet. 2021. PMID: 32381727 Free PMC article.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: zhang n, zhang f, zhang j, zhang y. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
Identification of novel FBN1 variations implicated in congenital scoliosis.
Lin M, Zhao S, Liu G, Huang Y, Yu C, Zhao Y, Wang L, Zhang Y, Yan Z, Wang S, Liu S, Liu J, Ye Y, Chen Y, Yang X, Tong B, Wang Z, Yang X, Niu Y, Li X, Wang Y, Su J, Yuan J, Zhao H, Zhang S, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Ikegawa S, Zhang J, Wu Z, Wu N. Lin M, et al. Among authors: zhang s, zhang j, zhang y. J Hum Genet. 2020 Mar;65(3):221-230. doi: 10.1038/s10038-019-0698-x. Epub 2019 Dec 11. J Hum Genet. 2020. PMID: 31827250 Free PMC article.
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Ren X, et al. Among authors: zhang l, zhang f, zhang j. J Med Genet. 2020 Jun;57(6):371-379. doi: 10.1136/jmedgenet-2019-106333. Epub 2019 Dec 30. J Med Genet. 2020. PMID: 31888956 Free PMC article.
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study.
Wang L, Zhang Y, Zhao S, Dong X, Li X, You Y, Yan Z, Liu G, Tong B, Chen Y, Yang X, Tian Y, Gao N, Wang Y, Wu Z, Qiu G, Zhang J, Wu N, Deciphering Disorders Involving Scoliosis COmorbidities DSG. Wang L, et al. Among authors: zhang j, zhang y. Med Sci Monit. 2020 Mar 16;26:e921611. doi: 10.12659/MSM.921611. Med Sci Monit. 2020. PMID: 32218412 Free PMC article.
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Wu N. Shao J, et al. Among authors: zhang j, zhang y. BMC Med Genet. 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y. BMC Med Genet. 2020. PMID: 32460719 Free PMC article.
Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.
Yang Y, Zhao S, Zhang Y, Wang S, Shao J, Liu B, Li Y, Yan Z, Niu Y, Li X, Wang L, Ye Y, Weng X, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang J, Wu N. Yang Y, et al. Among authors: zhang j, zhang y. Mol Genet Genomic Med. 2020 Oct;8(10):e1453. doi: 10.1002/mgg3.1453. Epub 2020 Aug 20. Mol Genet Genomic Med. 2020. PMID: 32815649 Free PMC article.
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N. Fan X, et al. Among authors: zhang s, zhang q, zhang j. J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22. J Genet Genomics. 2021. PMID: 34006472
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations.
Wu N, Wang L, Hu J, Zhao S, Liu B, Li Y, Du H, Zhang Y, Li X, Yan Z, Wang S, Wang Y, Zhang J, Wu Z, Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group, Qiu G. Wu N, et al. Among authors: zhang j, zhang y. Curr Gene Ther. 2019;19(4):242-247. doi: 10.2174/1566523219666190924120307. Curr Gene Ther. 2019. PMID: 31549955
179,035 results
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