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Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism.
Zhu Q, Wu N, Liu G, Zhou Y, Liu S, Chen J, Liu J, Zuo Y, Liu Z, Chen W, Chen Y, Chen J, Lin M, Zhao Y, Yang Y, Wang S, Yang X, Ma Y, Wang J, Chen X, Zhang J, Shen J, Wu Z, Qiu G. Zhu Q, et al. Among authors: wu n, wu z. J Cell Mol Med. 2018 Jan;22(1):533-545. doi: 10.1111/jcmm.13341. Epub 2017 Sep 25. J Cell Mol Med. 2018. PMID: 28944995 Free PMC article.
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N. Wang K, et al. Among authors: wu y, wu n, wu z. J Med Genet. 2018 Oct;55(10):675-684. doi: 10.1136/jmedgenet-2017-105224. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120215 Free PMC article.
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.
Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, Coban Akdemir Z, Lin J, Song X, Wang S, Xu Q, Zhao Y, Wang L, Zhang Y, Yan Z, Liu S, Liu J, Chen Y, Zuo Y, Yang X, Sun T, Yang XZ, Niu Y, Li X, You W, Qiu B, Ding C, Liu P, Zhang S, Carvalho CMB, Posey JE, Qiu G; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Wu Z, Zhang J, Wu N. Lin M, et al. Among authors: wu n, wu z. Mol Genet Genomic Med. 2020 Jan;8(1):e1023. doi: 10.1002/mgg3.1023. Epub 2019 Nov 27. Mol Genet Genomic Med. 2020. PMID: 31774634 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: wu n, wu z. 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.
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N, Zhang Z, Zhou X, Zhao H, Ming Y, Wu X, Zhang X, Yang XZ, Zhou M, Bao H, Chen W, Wu Y, Liu S, Wang H, Niu Y, Li Y, Zheng Y, Shao Y, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Li M, Sun Y, Su J, Zhang J, Xia W, Qiu G, Liu Y, Liu J, Wu Z. Wu N, et al. Among authors: wu y, wu x, wu z. J Cell Mol Med. 2020 May;24(9):4931-4943. doi: 10.1111/jcmm.14991. Epub 2020 Apr 11. J Cell Mol Med. 2020. PMID: 32277576 Free PMC article.
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: wu y, wu n, wu z. 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.
5,723 results