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Items: 1 to 20 of 103

1.

Automatic recognition of the XLHED phenotype from facial images.

Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK.

Am J Med Genet A. 2017 Sep;173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10.

PMID:
28691769
2.

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A.

J Med Genet. 2011 Jun;48(6):426-32. doi: 10.1136/jmg.2010.084012. Epub 2011 Feb 26.

PMID:
21357618
3.

Diagnosis of X-Linked Hypohidrotic Ectodermal Dysplasia by Meibography and Infrared Thermography of the Eye.

Kaercher T, Dietz J, Jacobi C, Berz R, Schneider H.

Curr Eye Res. 2015 Sep;40(9):884-90. doi: 10.3109/02713683.2014.967869. Epub 2014 Oct 13.

PMID:
25310457
4.

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

Burger K, Schneider AT, Wohlfart S, Kiesewetter F, Huttner K, Johnson R, Schneider H.

Am J Med Genet A. 2014 Oct;164A(10):2424-32. doi: 10.1002/ajmg.a.36541. Epub 2014 Apr 8.

PMID:
24715423
5.

The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010.

Nguyen-Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J.

Eur J Med Genet. 2013 May;56(5):236-42. doi: 10.1016/j.ejmg.2013.01.012. Epub 2013 Feb 14.

PMID:
23416623
6.

Orofacial features of hypohidrotic ectodermal dysplasia.

de Aquino SN, Paranaíba LM, Swerts MS, Martelli DR, de Barros LM, Martelli Júnior H.

Head Neck Pathol. 2012 Dec;6(4):460-6. doi: 10.1007/s12105-012-0349-4. Epub 2012 Mar 16.

7.

X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.

Fete M, Hermann J, Behrens J, Huttner KM.

Am J Med Genet A. 2014 Oct;164A(10):2437-42. doi: 10.1002/ajmg.a.36436. Epub 2014 Mar 24. Review.

PMID:
24664614
8.

Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.

Yin W, Ye X, Fan H, Bian Z.

PLoS One. 2013 Apr 23;8(4):e62203. doi: 10.1371/journal.pone.0062203. Print 2013. Erratum in: PLoS One. 2013 Sep 9;8(9):null.

9.

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.

Xue JJ, Tan B, Gao QP, Zhu GS, Liang DS, Wu LQ.

Genet Mol Res. 2015 Dec 2;14(4):15779-82. doi: 10.4238/2015.December.1.29.

10.

Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.

Sonnesen L, Jasemi A, Gjørup H, Daugaard-Jensen J.

Eur Arch Paediatr Dent. 2018 Oct;19(5):331-336. doi: 10.1007/s40368-018-0362-8. Epub 2018 Aug 20.

PMID:
30128696
11.

Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

Zhang J, Han D, Song S, Wang Y, Zhao H, Pan S, Bai B, Feng H.

Eur J Med Genet. 2011 Jul-Aug;54(4):e377-82. doi: 10.1016/j.ejmg.2011.03.005. Epub 2011 Mar 30.

PMID:
21457804
12.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD.

Mol Genet Genomic Med. 2014 Sep;2(5):422-9. doi: 10.1002/mgg3.84. Epub 2014 May 20.

13.

Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs.

Lewis JR, Reiter AM, Mauldin EA, Casal ML.

Orthod Craniofac Res. 2010 Feb;13(1):40-7. doi: 10.1111/j.1601-6343.2009.01473.x.

14.

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
15.

A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

Li M, Xu TY, Yang LJ, Zhu XH.

Arch Dermatol Res. 2008 Aug;300(7):389-91. doi: 10.1007/s00403-008-0855-0. Epub 2008 Apr 22.

PMID:
18427821
16.

The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree.

Yin W, Ye X, Bian Z.

Dermatology. 2013;226(2):105-10. doi: 10.1159/000346610. Epub 2013 Apr 26.

PMID:
23635427
17.

[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].

Li M, Yuan H, Li J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):274-6. doi: 10.3760/cma.j.issn.1003-9406.2013.03.005. Chinese.

PMID:
23744313
18.

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

Zeng B, Lu H, Xiao X, Zhou L, Lu J, Zhu L, Yu D, Zhao W.

Oral Dis. 2015 Nov;21(8):994-1000. doi: 10.1111/odi.12376. Epub 2015 Oct 24.

PMID:
26411740
19.

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Liu Y, Yu X, Wang L, Li C, Archacki S, Huang C, Liu JY, Wang Q, Liu M, Tang Z.

Gene. 2012 Jan 10;491(2):246-50. doi: 10.1016/j.gene.2011.10.009. Epub 2011 Oct 10.

PMID:
22008666
20.

Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family.

Chao SC, Chung CH, Yang CC, Yang MH, Lee JY.

J Formos Med Assoc. 2003 Jun;102(6):412-7.

PMID:
12923595

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