Smith C - Search Results

1

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E. Van de Sompele S, et al. Among authors: smith c. Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Genet Med. 2019. PMID: 30377383 Free PMC article.

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. Among authors: smith ce. 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

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.

6

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.

7

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.

8

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. Among authors: smith ce. 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.

9

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. Hum Mol Genet. 2017 May 15;26(10):1863-1876. doi: 10.1093/hmg/ddx090. Hum Mol Genet. 2017. PMID: 28334996 Free PMC article.

10

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith CE, Whitehouse LL, Poulter JA, Brookes SJ, Day PF, Soldani F, Kirkham J, Inglehearn CF, Mighell AJ. Smith CE, et al. Eur J Hum Genet. 2017 Aug;25(8):1015-1019. doi: 10.1038/ejhg.2017.79. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513613 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

21,180 results

Search Page