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Results: 1 to 20 of 118

1.

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.

PMID:
23434854
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
24196488
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
24927635
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23468644
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
21549343
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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
[PubMed - indexed for MEDLINE]
7.

Enamel renal syndrome: a rare case report.

Kala Vani SV, Varsha M, Sankar YU.

J Indian Soc Pedod Prev Dent. 2012 Apr-Jun;30(2):169-72. doi: 10.4103/0970-4388.100006.

PMID:
22918105
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
9.

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism.

Lubinsky M, Angle C, Marsh PW, Witkop CJ Jr.

Am J Med Genet. 1985 Feb;20(2):233-43.

PMID:
3872071
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2009 Nov;85(5):699-705. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22.

PMID:
19853237
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families.

Urzúa B, Ortega-Pinto A, Farias DA, Franco E, Morales-Bozo I, Moncada G, Escobar-Pezoa N, Scholz U, Cifuentes V.

Acta Odontol Scand. 2012 Jan;70(1):7-14. doi: 10.3109/00016357.2011.574973. Epub 2011 Apr 19.

PMID:
21504268
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - in process]
14.

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.

PMID:
14684688
[PubMed - indexed for MEDLINE]
Free PMC Article
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(1):14. [Epub ahead of print]

PMID:
25636655
[PubMed - as supplied by publisher]
Free PMC Article
16.

Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.

Haubek D, Gjørup H, Jensen LG, Juncker I, Nyegaard M, Børglum AD, Poulsen S, Hertz JM.

Int J Paediatr Dent. 2011 Nov;21(6):407-12. doi: 10.1111/j.1365-263X.2011.01142.x. Epub 2011 Jun 27.

PMID:
21702852
[PubMed - indexed for MEDLINE]
17.

Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings.

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

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1995 May;79(5):583-92.

PMID:
7600222
[PubMed - indexed for MEDLINE]
18.

Phenotype of ENAM mutations is dosage-dependent.

Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC.

J Dent Res. 2005 Nov;84(11):1036-41.

PMID:
16246937
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome.

Normand de la Tranchade I, Bonarek H, Marteau JM, Boileau MJ, Nancy J.

J Clin Pediatr Dent. 2003 Winter;27(2):171-5. Review.

PMID:
12597691
[PubMed - indexed for MEDLINE]
20.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.

Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.

PMID:
19530186
[PubMed - indexed for MEDLINE]
Free PMC Article
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