Babbs C - Search Results

1

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. Twigg SR, et al. Among authors: babbs c. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27. Proc Natl Acad Sci U S A. 2004. PMID: 15166289 Free PMC article.

2

Developmental mechanisms underlying polydactyly in the mouse mutant Doublefoot.

Crick AP, Babbs C, Brown JM, Morriss-Kay GM. Crick AP, et al. Among authors: babbs c. J Anat. 2003 Jan;202(1):21-6. doi: 10.1046/j.1469-7580.2003.00132.x. J Anat. 2003. PMID: 12587916 Free PMC article. Review.

3

The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT.

Perlyn CA, DeLeon VB, Babbs C, Govier D, Burell L, Darvann T, Kreiborg S, Morriss-Kay G. Perlyn CA, et al. Among authors: babbs c. Cleft Palate Craniofac J. 2006 Nov;43(6):740-8. doi: 10.1597/05-212. Cleft Palate Craniofac J. 2006. PMID: 17105336

4

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO. Babbs C, et al. Hum Genet. 2007 Sep;122(2):191-9. doi: 10.1007/s00439-007-0390-7. Epub 2007 Jun 14. Hum Genet. 2007. PMID: 17569090

5

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.

Babbs C, Furniss D, Morriss-Kay GM, Wilkie AO. Babbs C, et al. Mech Dev. 2008 May-Jun;125(5-6):517-26. doi: 10.1016/j.mod.2008.01.001. Epub 2008 Jan 11. Mech Dev. 2008. PMID: 18272352 Free PMC article.

6

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO. Twigg SR, et al. Among authors: babbs c. Dev Dyn. 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790. Dev Dyn. 2009. PMID: 19086028 Free article.

7

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO. Babbs C, et al. Hum Mutat. 2011 Aug;32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21542058 Free PMC article.

8

Nprl3 is required for normal development of the cardiovascular system.

Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Kowalczyk MS, et al. Among authors: babbs c. Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27. Mamm Genome. 2012. PMID: 22538705

9

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO. Twigg SR, et al. Among authors: babbs c. Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335590 Free PMC article.

10

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium; Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ. Babbs C, et al. Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28. Haematologica. 2013. PMID: 23716552 Free PMC article.

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