Turnpenny PD - Search Results

1

Progress in the understanding of the genetic etiology 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: turnpenny pd. Ann N Y Acad Sci. 2009 Jan;1151:38-67. doi: 10.1111/j.1749-6632.2008.03452.x. Ann N Y Acad Sci. 2009. PMID: 19154516 Review.

2

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: turnpenny pd. Expert Opin Med Diagn. 2008 Oct;2(10):1107-21. doi: 10.1517/17530059.2.10.1107. Expert Opin Med Diagn. 2008. PMID: 23496422

3

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. Dev Dyn. 2007 Jun;236(6):1456-74. doi: 10.1002/dvdy.21182. Dev Dyn. 2007. PMID: 17497699 Free article. Review.

4

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.

Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD; ICVAS (International Consortium for Vertebral Anomalies and Scoliosis). Offiah A, et al. Among authors: turnpenny pd. Am J Med Genet A. 2010 Jun;152A(6):1357-71. doi: 10.1002/ajmg.a.33361. Am J Med Genet A. 2010. PMID: 20503308

5

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: turnpenny pd. 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.

6

Formation errors of the vertebral column.

Kusumi K, Turnpenny PD. Kusumi K, et al. Among authors: turnpenny pd. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:64-71. doi: 10.2106/JBJS.F.00486. J Bone Joint Surg Am. 2007. PMID: 17272424 Review. No abstract available.

7

Disruption of the somitic molecular clock causes abnormal vertebral segmentation.

Sparrow DB, Chapman G, Turnpenny PD, Dunwoodie SL. Sparrow DB, et al. Among authors: turnpenny pd. Birth Defects Res C Embryo Today. 2007 Jun;81(2):93-110. doi: 10.1002/bdrc.20093. Birth Defects Res C Embryo Today. 2007. PMID: 17600782 Review.

8

Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.

Erol B, Tracy MR, Dormans JP, Zackai EH, Maisenbacher MK, O'Brien ML, Turnpenny PD, Kusumi K. Erol B, et al. Among authors: turnpenny pd. J Pediatr Orthop. 2004 Nov-Dec;24(6):674-82. J Pediatr Orthop. 2004. PMID: 15502569

9

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S. Turnpenny PD, et al. J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333. J Med Genet. 2003. PMID: 12746394 Free PMC article.

10

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL. Sparrow DB, et al. Among authors: turnpenny pd. Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20. Eur J Hum Genet. 2010. PMID: 20087400 Free PMC article.

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