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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2013 | 1 |
2014 | 3 |
2015 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
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.
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.
Item in Clipboard
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.
Item in Clipboard
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A.
de la Dure-Molla M, et al.
Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84.
Orphanet J Rare Dis. 2014.
PMID: 24927635
Free PMC article.
Review.
Item in Clipboard
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.
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Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, Mighell AJ.
Poulter JA, et al.
Eur J Hum Genet. 2014 Jan;22(1):132-5. doi: 10.1038/ejhg.2013.76. Epub 2013 May 1.
Eur J Hum Genet. 2014.
PMID: 23632796
Free PMC article.
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