Turnpenny PD - Search Results

1

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.

2

Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Turnpenny PD, Thwaites RJ, Boulos FN. Turnpenny PD, et al. J Med Genet. 1991 Jan;28(1):27-33. doi: 10.1136/jmg.28.1.27. J Med Genet. 1991. PMID: 1999829 Free PMC article.

3

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. Bitner-Glindzicz M, et al. Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467. Hum Mol Genet. 1995. PMID: 7581392 Free article. No abstract available.

4

Delineation of two distinct 6p deletion syndromes.

Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J. Davies AF, et al. Hum Genet. 1999 Jan;104(1):64-72. doi: 10.1007/s004390050911. Hum Genet. 1999. PMID: 10071194

5

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

6

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.

7

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

8

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.

9

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

10

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Sparrow DB, et al. Among authors: turnpenny pd. Am J Hum Genet. 2006 Jan;78(1):28-37. doi: 10.1086/498879. Epub 2005 Nov 16. Am J Hum Genet. 2006. PMID: 16385447 Free PMC article.

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