Turnpenny PD - Search Results

1

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.

Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S. Lango Allen H, et al. Among authors: turnpenny pd. J Med Genet. 2014 Apr;51(4):264-7. doi: 10.1136/jmedgenet-2013-102142. Epub 2014 Jan 23. J Med Genet. 2014. PMID: 24459211 Free PMC article.

2

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. Turnpenny PD, et al. Am J Hum Genet. 1999 Jul;65(1):175-82. doi: 10.1086/302464. Am J Hum Genet. 1999. PMID: 10364530 Free PMC article.

3

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. Bulman MP, et al. Among authors: turnpenny pd. Nat Genet. 2000 Apr;24(4):438-41. doi: 10.1038/74307. Nat Genet. 2000. PMID: 10742114

4

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.

5

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Whittock NV, Turnpenny PD, Tuerlings J, Ellard S. Whittock NV, et al. Among authors: turnpenny pd. Prenat Diagn. 2003 Jul;23(7):575-9. doi: 10.1002/pd.643. Prenat Diagn. 2003. PMID: 12868087

6

Mutated MESP2 causes spondylocostal dysostosis in humans.

Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD. Whittock NV, et al. Among authors: turnpenny pd. Am J Hum Genet. 2004 Jun;74(6):1249-54. doi: 10.1086/421053. Epub 2004 Apr 30. Am J Hum Genet. 2004. PMID: 15122512 Free PMC article.

7

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.

Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD. Whittock NV, et al. Among authors: turnpenny pd. Clin Genet. 2004 Jul;66(1):67-72. doi: 10.1111/j.0009-9163.2004.00272.x. Clin Genet. 2004. PMID: 15200511

8

Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management.

Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B. Spyer G, et al. Among authors: turnpenny pd. Thyroid. 2006 Jun;16(6):605-8. doi: 10.1089/thy.2006.16.605. Thyroid. 2006. PMID: 16839263

9

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: turnpenny pd. 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.

10

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD. Gucev ZS, et al. Among authors: turnpenny pd. Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471. Am J Med Genet A. 2010. PMID: 20503311

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