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Page 1
Molecular diagnosis of vertebral segmentation disorders in humans.
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD. Giampietro PF, et al. Among authors: pourquie o. Expert Opin Med Diagn. 2008 Oct;2(10):1107-21. doi: 10.1517/17530059.2.10.1107. Expert Opin Med Diagn. 2008. PMID: 23496422
Abnormal vertebral segmentation and the notch signaling pathway in man.
Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquié O, Kusumi K, Dunwoodie S. Turnpenny PD, et al. Among authors: pourquie o. Dev Dyn. 2007 Jun;236(6):1456-74. doi: 10.1002/dvdy.21182. Dev Dyn. 2007. PMID: 17497699 Free article. Review.
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.
Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Giampietro PF, et al. Among authors: pourquie o. Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159998 Free PMC article.
When body segmentation goes wrong.
Pourquié O, Kusumi K. Pourquié O, et al. Clin Genet. 2001 Dec;60(6):409-16. doi: 10.1034/j.1399-0004.2001.600602.x. Clin Genet. 2001. PMID: 11846732 Review.
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group; TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. Londono D, et al. J Med Genet. 2014 Jun;51(6):401-6. doi: 10.1136/jmedgenet-2013-102067. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721834
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Cornier AS, et al. Among authors: pourquie o. Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15. Am J Hum Genet. 2008. PMID: 18485326 Free PMC article.
216 results