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Items: 1 to 20 of 412

1.

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.

Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012.

2.

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.

Hum Mutat. 2006 Mar;27(3):255-9.

PMID:
16435307
3.
4.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

Lind LK, Stecksén-Blicks C, Lejon K, Schmitt-Egenolf M.

BMC Med Genet. 2006 Nov 24;7:80.

5.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
6.

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.

Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E.

Arch Dermatol Res. 2010 May;302(4):307-10. doi: 10.1007/s00403-009-1013-z.

PMID:
20033817
7.

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A.

Hum Mutat. 2007 Jul;28(7):703-9.

PMID:
17354266
8.

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV.

Br J Dermatol. 2012 Apr;166(4):819-29. doi: 10.1111/j.1365-2133.2011.10707.x.

PMID:
22032522
9.

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.

Clin Genet. 2010 Sep;78(3):257-66. doi: 10.1111/j.1399-0004.2010.01376.x.

PMID:
20236127
10.

A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.

Masui Y, Farooq M, Sato N, Fujimoto A, Fujikawa H, Ito M, Shimomura Y.

Dermatology. 2011;223(1):74-9. doi: 10.1159/000330557.

PMID:
21876339
11.

Hypohidrotic ectodermal dysplasia.

Lu PD, Schaffer JV.

Dermatol Online J. 2008 Oct 15;14(10):22.

PMID:
19061621
12.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W.

Arch Dermatol Res. 2009 Sep;301(8):625-9. doi: 10.1007/s00403-009-0975-1.

PMID:
19551394
13.

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.

Naqvi SK, Wasif N, Javaid H, Ahmad W.

Orthod Craniofac Res. 2011 Aug;14(3):156-9. doi: 10.1111/j.1601-6343.2011.01521.x.

PMID:
21771270
14.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P.

Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x.

PMID:
20222921
15.

Molecular aspects of hypohidrotic ectodermal dysplasia.

Mikkola ML.

Am J Med Genet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855. Review.

PMID:
19681132
16.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N.

Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747.

PMID:
23401279
17.

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

Shimomura Y, Sato N, Miyashita A, Hashimoto T, Ito M, Kuwano R.

J Invest Dermatol. 2004 Oct;123(4):649-55.

18.

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J.

Arch Dermatol. 2000 Feb;136(2):217-24.

PMID:
10677098
19.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Bibi N, Ahmad S, Ahmad W, Naeem M.

Australas J Dermatol. 2011 Feb;52(1):37-42. doi: 10.1111/j.1440-0960.2010.00685.x.

PMID:
21332691
20.

A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.

Lin TK, Huang CY, Lin MH, Chao SC.

Clin Exp Dermatol. 2004 Sep;29(5):536-8.

PMID:
15347342

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