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Items: 1 to 20 of 108

1.

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

Tiedemann Svendsen M, Henningsen E, Hertz JM, Vestergaard Grejsen D, Bygum A.

Acta Derm Venereol. 2014 Sep;94(5):531-3. doi: 10.2340/00015555-1799.

2.

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
3.

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. Epub 2010 Feb 24.

PMID:
20236127
4.

EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C > T mutation.

Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C.

BMC Med Genet. 2014 May 16;15:57. doi: 10.1186/1471-2350-15-57.

5.
6.

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia.

Cañueto J, Zafra-Cobo MI, Ciria S, Unamuno P, González-Sarmiento R.

Actas Dermosifiliogr. 2011 Nov;102(9):722-5. doi: 10.1016/j.ad.2011.04.004. Epub 2011 Jun 21.

PMID:
21696697
7.

Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD.

Br J Dermatol. 2008 Jan;158(1):163-7. Epub 2007 Oct 26. No abstract available.

PMID:
17970812
8.

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. Epub 2009 Jun 24.

PMID:
19551394
9.

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. Epub 2012 Mar 5.

PMID:
22032522
10.

[Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].

Wu QH, Shi HR, Liu BC, Zhao ZH, Jiang M, Lu N, Kong XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):447-51. doi: 10.3760/cma.j.issn.1003-9406.2012.04.015. Chinese.

PMID:
22875504
11.

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
12.

Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

Shimomura Y, Wajid M, Weiser J, Kraemer L, Ishii Y, Lombillo V, Bale SJ, Christiano AM.

Clin Genet. 2009 Jun;75(6):582-4. doi: 10.1111/j.1399-0004.2009.01178.x. Epub 2009 May 5. No abstract available.

PMID:
19438931
13.

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. Epub 2009 Dec 24.

PMID:
20033817
14.

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. Epub 2008 Jan 30.

15.

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. Epub 2011 Jul 14.

PMID:
21771270
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. Epub 2013 Feb 7.

PMID:
23401279
17.

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.

18.

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

Bustos T, Simosa V, Pinto-Cisternas J, Abramovits W, Jolay L, Rodriguez L, Fernandez L, Ramela M.

Am J Med Genet. 1991 Dec 15;41(4):398-404.

PMID:
1776626
19.

Hair shaft structures in EDAR induced ectodermal dysplasia.

Stecksén-Blicks C, Falk Kieri C, Hägg D, Schmitt-Egenolf M.

BMC Med Genet. 2015 Sep 4;16:79. doi: 10.1186/s12881-015-0227-5.

20.

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. Epub 2010 Aug 24.

PMID:
21332691
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