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Results: 1 to 20 of 254

1.

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.

Nat Genet. 1999 Aug;22(4):366-9.

PMID:
10431241
[PubMed - indexed for MEDLINE]
2.

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

Naeem M, Muhammad D, Ahmad W.

Br J Dermatol. 2005 Jul;153(1):46-50.

PMID:
16029325
[PubMed - indexed for MEDLINE]
3.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J.

Am J Hum Genet. 1997 Jul;61(1):94-100.

PMID:
9245989
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

Monreal AW, Zonana J, Ferguson B.

Am J Hum Genet. 1998 Aug;63(2):380-9. Erratum in: Am J Hum Genet 1998 Oct;63(4):1253-5.

PMID:
9683615
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Signaling and subcellular localization of the TNF receptor Edar.

Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola ML.

Exp Cell Res. 2001 Oct 1;269(2):180-92.

PMID:
11570810
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
15373768
[PubMed - indexed for MEDLINE]
Free Article
8.

Involvement of a novel Tnf receptor homologue in hair follicle induction.

Headon DJ, Overbeek PA.

Nat Genet. 1999 Aug;22(4):370-4.

PMID:
10431242
[PubMed - indexed for MEDLINE]
9.

Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development.

Jaskoll T, Zhou YM, Trump G, Melnick M.

Anat Rec A Discov Mol Cell Evol Biol. 2003 Apr;271(2):322-31.

PMID:
12629675
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

PMID:
18231121
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
17125505
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.

Am J Hum Genet. 2000 Dec;67(6):1555-62. Epub 2000 Oct 24.

PMID:
11047757
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.

Nature. 2001 Dec 20-27;414(6866):913-6.

PMID:
11780064
[PubMed - indexed for MEDLINE]
16.

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J.

J Biol Chem. 2001 Jun 1;276(22):18819-27. Epub 2001 Mar 14.

PMID:
11279189
[PubMed - indexed for MEDLINE]
Free Article
17.

Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.

Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM.

Curr Biol. 2002 Mar 5;12(5):409-13.

PMID:
11882293
[PubMed - indexed for MEDLINE]
18.

Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia.

Kobielak A, Kobielak K, Wiśniewski SA, Midro AT, Trzeciak WH.

Folia Histochem Cytobiol. 2001;39(2):113-4.

PMID:
11374782
[PubMed - indexed for MEDLINE]
19.

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.

Naito A, Yoshida H, Nishioka E, Satoh M, Azuma S, Yamamoto T, Nishikawa S, Inoue J.

Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8766-71. Epub 2002 Jun 11.

PMID:
12060722
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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