Smith CEL - Search Results

1

Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: smith cel. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.

2

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ. Poulter JA, et al. Hum Mol Genet. 2014 Apr 15;23(8):2189-97. doi: 10.1093/hmg/ddt616. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319098 Free PMC article.

3

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ. Poulter JA, et al. Hum Mol Genet. 2014 Oct 15;23(20):5317-24. doi: 10.1093/hmg/ddu247. Epub 2014 May 23. Hum Mol Genet. 2014. PMID: 24858907 Free PMC article.

4

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, Paula LM, Parry DA, Logan CV, Smith CE, Johnson CA, Inglehearn CF, Mighell AJ. Acevedo AC, et al. BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5. BMC Med Genet. 2015. PMID: 25928877 Free PMC article.

5

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G. Ratbi I, et al. Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17. Am J Hum Genet. 2015. PMID: 26387595 Free PMC article.

6

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Poulter JA, Smith CE, Murrillo G, Silva S, Feather S, Howell M, Crinnion L, Bonthron DT, Carr IM, Watson CM, Inglehearn CF, Mighell AJ. Poulter JA, et al. Mol Genet Genomic Med. 2015 Oct 4;3(6):543-9. doi: 10.1002/mgg3.164. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740946 Free PMC article.

7

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Smith CE, et al. Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302843 Free PMC article.

8

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ. Smith CE, et al. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12. Hum Mol Genet. 2016. PMID: 27412008 Free PMC article.

9

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ. Parry DA, et al. Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693231 Free PMC article.

10

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Brookes SJ, Barron MJ, Smith CEL, Poulter JA, Mighell AJ, Inglehearn CF, Brown CJ, Rodd H, Kirkham J, Dixon MJ. Brookes SJ, et al. Among authors: smith cel. Hum Mol Genet. 2017 May 15;26(10):1863-1876. doi: 10.1093/hmg/ddx090. Hum Mol Genet. 2017. PMID: 28334996 Free PMC article.

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