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Items: 1 to 20 of 107

1.

FAM20A mutations can cause enamel-renal syndrome (ERS).

Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC.

PLoS Genet. 2013;9(2):e1003302. doi: 10.1371/journal.pgen.1003302. Epub 2013 Feb 28.

2.

FAM20A mutations associated with enamel renal syndrome.

Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC.

J Dent Res. 2014 Jan;93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6.

3.

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.

Orphanet J Rare Dis. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84. Review.

4.

Enamel-renal-gingival syndrome and FAM20A mutations.

Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A.

Am J Med Genet A. 2014 Jan;164A(1):1-9. doi: 10.1002/ajmg.a.36187. Epub 2013 Nov 20.

PMID:
24259279
5.

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.

Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y.

Am J Med Genet A. 2014 Aug;164A(8):2124-8. doi: 10.1002/ajmg.a.36579. Epub 2014 Apr 22. No abstract available.

PMID:
24756937
6.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

7.

Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

Vogel P, Hansen GM, Read RW, Vance RB, Thiel M, Liu J, Wronski TJ, Smith DD, Jeter-Jones S, Brommage R.

Vet Pathol. 2012 Nov;49(6):998-1017. doi: 10.1177/0300985812453177. Epub 2012 Jun 25.

8.

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW.

Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.

PMID:
21990045
9.

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ.

Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.

10.

Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review.

Ashkenazi M, Rafe Z, Sarnat H, Levin L.

Pediatr Dent. 2014 May-Jun;36(3):250-3. Review.

PMID:
24960394
11.

Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome.

Phakey P, Palamara J, Hall RK, McCredie DA.

Connect Tissue Res. 1995;32(1-4):253-9.

PMID:
7554924
12.

Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family.

Martelli-Júnior H, Bonan PR, Dos Santos LA, Santos SM, Cavalcanti MG, Coletta RD.

J Periodontol. 2008 Jul;79(7):1287-96. doi: 10.1902/jop.2008.070520 .

PMID:
18597613
13.

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family.

Paula LM, Melo NS, Silva Guerra EN, Mestrinho DH, Acevedo AC.

Arch Oral Biol. 2005 Feb;50(2):237-42.

PMID:
15721155
14.

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC.

J Dent Res. 2005 Mar;84(3):278-82.

PMID:
15723871
15.

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A.

BMC Oral Health. 2015 Jan 30;15:14. doi: 10.1186/1472-6831-15-14.

16.

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC.

Hum Mol Genet. 2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.

17.

Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature.

Martelli-Júnior H, dos Santos Neto PE, de Aquino SN, de Oliveira Santos CC, Borges SP, Oliveira EA, Lopes MA, Coletta RD.

Nephron Physiol. 2011;118(3):p62-5. doi: 10.1159/000322828. Epub 2011 Jan 7. Review.

PMID:
21212699
18.

Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth.

Li LL, Liu PH, Xie XH, Ma S, Liu C, Chen L, Qin CL.

Int J Oral Sci. 2016 Jun 30;8(2):98-109. doi: 10.1038/ijos.2016.14.

19.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Volodarsky M, Zilberman U, Birk OS.

Arch Oral Biol. 2015 Jun;60(6):919-22. doi: 10.1016/j.archoralbio.2015.02.018. Epub 2015 Feb 28.

PMID:
25827751
20.

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.

J Med Genet. 2003 Dec;40(12):900-6.

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