• Reference Citation Analysis
  • v
  • v
  • Find an Article
Find an Article PDF (5050966)   Today's Articles (16)
For: Fei Q, Wu Z, Wang H, Zhou X, Wang N, Ding Y, Wang Y, Qiu G. The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population. Spine (Phila Pa 1976) 2010;35:983-8. [PMID: 20228709 DOI: 10.1097/BRS.0b013e3181bc963c] [Citation(s) in RCA: 34] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Number Cited by Other Article(s)
1
Wang Y, Zhou H, Fu F, Cheng K, Yu Q, Huang R, Lei T, Yang X, Li D, Liao C. Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion. Genes (Basel) 2022;13:genes13122315. [PMID: 36553582 PMCID: PMC9778018 DOI: 10.3390/genes13122315] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2022] [Revised: 11/27/2022] [Accepted: 12/06/2022] [Indexed: 12/13/2022]  Open
2
Demura S, Hinoi E, Kawakami N, Handa M, Yokogawa N, Hiraiwa M, Kato S, Shinmura K, Shimizu T, Oku N, Annen R, Kobayashi M, Yamada Y, Nagatani S, Iezaki T, Taniguchi Y, Tsuchiya H. The L-type Amino Acid Transporter (LAT1) Expression in Patients with Scoliosis. Spine Surg Relat Res 2022;6:402-407. [PMID: 36051676 PMCID: PMC9381085 DOI: 10.22603/ssrr.2021-0189] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2021] [Accepted: 11/11/2021] [Indexed: 01/04/2023]  Open
3
Guo T, Lu C, Yang D, Lei C, Liu Y, Xu Y, Yang B, Wang R, Luo H. Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families. Front Genet 2022;13:934920. [PMID: 35903363 PMCID: PMC9315306 DOI: 10.3389/fgene.2022.934920] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/03/2022] [Accepted: 06/01/2022] [Indexed: 11/13/2022]  Open
4
Role of Primary Cilia in Skeletal Disorders. Stem Cells Int 2022;2022:6063423. [PMID: 35761830 PMCID: PMC9233574 DOI: 10.1155/2022/6063423] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/10/2022] [Revised: 05/23/2022] [Accepted: 06/03/2022] [Indexed: 11/26/2022]  Open
5
Developments in Congenital Scoliosis and Related Research from 1992 to 2021: A Thirty-Year Bibliometric Analysis. World Neurosurg 2022;164:e24-e44. [PMID: 35248773 DOI: 10.1016/j.wneu.2022.02.117] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2022] [Revised: 02/25/2022] [Accepted: 02/26/2022] [Indexed: 11/21/2022]
6
Lu C, Yang D, Lei C, Wang R, Guo T, Luo H. Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia. PHARMACOGENOMICS & PERSONALIZED MEDICINE 2021;14:1415-1423. [PMID: 34785929 PMCID: PMC8591118 DOI: 10.2147/pgpm.s338981] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 09/16/2021] [Accepted: 10/26/2021] [Indexed: 01/16/2023]
7
Li JY, Liu SZ, Zheng DF, Zhang YS, Yu M. Collagen VI-related myopathy with scoliosis alone: A case report and literature review. World J Clin Cases 2021;9:5302-5312. [PMID: 34307582 PMCID: PMC8283577 DOI: 10.12998/wjcc.v9.i19.5302] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/25/2021] [Revised: 04/26/2021] [Accepted: 04/29/2021] [Indexed: 02/06/2023]  Open
8
Mathieu H, Patten SA, Aragon-Martin JA, Ocaka L, Simpson M, Child A, Moldovan F. Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family. Sci Rep 2021;11:11026. [PMID: 34040021 PMCID: PMC8155187 DOI: 10.1038/s41598-021-90155-0] [Citation(s) in RCA: 17] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/27/2020] [Accepted: 05/04/2021] [Indexed: 02/07/2023]  Open
9
Feng X, Cheung JPY, Je JSH, Cheung PWH, Chen S, Yue M, Wang N, Choi VNT, Yang X, Song YQ, Luk KDK, Gao B. Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China. J Orthop Res 2021;39:971-988. [PMID: 32672867 DOI: 10.1002/jor.24805] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/03/2020] [Revised: 07/02/2020] [Accepted: 07/09/2020] [Indexed: 02/04/2023]
10
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis. Mol Cytogenet 2019;12:36. [PMID: 31391865 PMCID: PMC6681493 DOI: 10.1186/s13039-019-0448-y] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/05/2019] [Accepted: 07/10/2019] [Indexed: 12/27/2022]  Open
11
Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S. Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update. Sex Dev 2019;13:35-40. [DOI: 10.1159/000496819] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/03/2018] [Indexed: 12/22/2022]  Open
12
Mackel CE, Jada A, Samdani AF, Stephen JH, Bennett JT, Baaj AA, Hwang SW. A comprehensive review of the diagnosis and management of congenital scoliosis. Childs Nerv Syst 2018;34:2155-2171. [PMID: 30078055 DOI: 10.1007/s00381-018-3915-6] [Citation(s) in RCA: 31] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/14/2018] [Accepted: 07/11/2018] [Indexed: 02/07/2023]
13
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G, Zhang F, Wu Z, Lupski JR, Wu N. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 2018;137:553-567. [PMID: 30019117 DOI: 10.1007/s00439-018-1910-3] [Citation(s) in RCA: 51] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/18/2018] [Accepted: 07/07/2018] [Indexed: 01/25/2023]
14
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z. Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget 2018;7:57430-57441. [PMID: 27437870 PMCID: PMC5302999 DOI: 10.18632/oncotarget.10619] [Citation(s) in RCA: 15] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2016] [Accepted: 05/16/2016] [Indexed: 02/05/2023]  Open
15
Ledig S, Wieacker P. Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. MED GENET-BERLIN 2018;30:3-11. [PMID: 29527097 PMCID: PMC5838123 DOI: 10.1007/s11825-018-0173-7] [Citation(s) in RCA: 33] [Impact Index Per Article: 4.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
16
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 2017;22:836-849. [PMID: 27240531 PMCID: PMC5508252 DOI: 10.1038/mp.2016.84] [Citation(s) in RCA: 62] [Impact Index Per Article: 7.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/04/2015] [Revised: 03/18/2016] [Accepted: 04/18/2016] [Indexed: 12/20/2022]
17
Vissarionov SV, Larionova VI, Kazarian IV, Filippova AN, Kostik MM, Voitovich AN, Rotchev EV. The gene polymorphisms of COL1A1 and VDR in children with scoliosis. PEDIATRIC TRAUMATOLOGY, ORTHOPAEDICS AND RECONSTRUCTIVE SURGERY 2017;5:5-12. [DOI: 10.17816/ptors515-12] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/09/2025]
18
Yang Y, Wang BQ, Wu ZH, Zhang HY, Qiu GX, Shen JX, Zhang JG, Zhao Y, Wang YP, Fei Q. Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population. Medicine (Baltimore) 2016;95:e4347. [PMID: 27472720 PMCID: PMC5265857 DOI: 10.1097/md.0000000000004347] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]  Open
19
Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis. Spine Deform 2015;3:288-296. [PMID: 26120555 PMCID: PMC4480874 DOI: 10.1016/j.jspd.2015.01.005] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/28/2023]
20
Tewes AC, Rall KK, Römer T, Hucke J, Kapczuk K, Brucker S, Wieacker P, Ledig S. Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts. Fertil Steril 2015;103:1313-8. [DOI: 10.1016/j.fertnstert.2015.02.014] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/06/2014] [Revised: 02/10/2015] [Accepted: 02/10/2015] [Indexed: 01/15/2023]
21
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 2015;372:341-50. [PMID: 25564734 PMCID: PMC4326244 DOI: 10.1056/nejmoa1406829] [Citation(s) in RCA: 232] [Impact Index Per Article: 23.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
22
Association of LMX1A genetic polymorphisms with susceptibility to congenital scoliosis in Chinese Han population. Spine (Phila Pa 1976) 2014;39:1785-91. [PMID: 25099324 DOI: 10.1097/brs.0000000000000536] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
23
Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K. TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis 2013;8:125. [PMID: 23954021 PMCID: PMC3847609 DOI: 10.1186/1750-1172-8-125] [Citation(s) in RCA: 64] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2013] [Accepted: 08/14/2013] [Indexed: 12/16/2022]  Open
24
Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 2013;4:94-105. [PMID: 23653580 DOI: 10.1159/000345329] [Citation(s) in RCA: 70] [Impact Index Per Article: 5.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]  Open
25
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 2013;49:660-8. [PMID: 23054248 PMCID: PMC3494011 DOI: 10.1136/jmedgenet-2012-101203] [Citation(s) in RCA: 209] [Impact Index Per Article: 17.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
26
Moon ES, Kim HS, Sharma V, Park JO, Lee HM, Moon SH, Chong HS. Analysis of single nucleotide polymorphism in adolescent idiopathic scoliosis in Korea: for personalized treatment. Yonsei Med J 2013;54:500-9. [PMID: 23364988 PMCID: PMC3575984 DOI: 10.3349/ymj.2013.54.2.500] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]  Open
27
Ouellet J, Odent T. Animal models for scoliosis research: state of the art, current concepts and future perspective applications. EUROPEAN SPINE JOURNAL : OFFICIAL PUBLICATION OF THE EUROPEAN SPINE SOCIETY, THE EUROPEAN SPINAL DEFORMITY SOCIETY, AND THE EUROPEAN SECTION OF THE CERVICAL SPINE RESEARCH SOCIETY 2013;22 Suppl 2:S81-95. [PMID: 23099524 PMCID: PMC3616476 DOI: 10.1007/s00586-012-2396-7] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/09/2012] [Revised: 05/21/2012] [Accepted: 05/28/2012] [Indexed: 11/24/2022]
28
Giampietro PF. Genetic aspects of congenital and idiopathic scoliosis. SCIENTIFICA 2012;2012:152365. [PMID: 24278672 PMCID: PMC3820596 DOI: 10.6064/2012/152365] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 10/10/2012] [Accepted: 11/11/2012] [Indexed: 06/02/2023]
29
Pourquié O. Vertebrate segmentation: from cyclic gene networks to scoliosis. Cell 2011;145:650-63. [PMID: 21620133 PMCID: PMC3164975 DOI: 10.1016/j.cell.2011.05.011] [Citation(s) in RCA: 258] [Impact Index Per Article: 18.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/07/2010] [Indexed: 12/18/2022]
30
Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Am J Med Genet B Neuropsychiatr Genet 2011;156:225-32. [PMID: 21302351 DOI: 10.1002/ajmg.b.31147] [Citation(s) in RCA: 27] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/21/2010] [Accepted: 10/26/2010] [Indexed: 11/10/2022]
PrevPage 1 of 1 1Next
© 2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Excel