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Items: 1 to 20 of 90

1.

One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia.

Wang J, Ha WW, Wang W, Tang HY, Tang XF, Zheng XD, Zhu J, Yin XY, Yang S, Zhang XJ.

Ann Dermatol. 2014 Feb;26(1):111-3. doi: 10.5021/ad.2014.26.1.111. Epub 2014 Feb 17. No abstract available.

2.

[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].

Zhang H, Quan C, Gao M, Xiao FL, Lu WS, Shen YJ, Zhou FS, Yang S, Zhang XJ.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Apr;29(2):201-4. Chinese.

3.

[Molecular genetics study of ED1 gene for two X-linked hypohidrotic ectodermal dysplasia families].

Zhu HI, Wang WJ, Zhu RF, Zhu XY, Yang Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):399-402. doi: 10.3760/cma.j.issn.1003-9406.2013.04.004. Chinese.

PMID:
23926003
4.

Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.

Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W.

Arch Dermatol Res. 2003 Apr;295(1):38-42. Epub 2003 Mar 22. No abstract available.

PMID:
12682853
5.

A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.

Sekiguchi H, Wang XJ, Minaguchi K, Yakushiji M.

Int J Paediatr Dent. 2005 Jan;15(1):73-7.

PMID:
15663448
6.

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
7.

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
8.

A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.

Zhang H, Quan C, Sun LD, Lv HL, Gao M, Zhou FS, Xiao FL, Fang QY, Shen YJ, Zhou L, Yang S, Zhang XJ.

Clin Exp Dermatol. 2009 Jan;34(1):74-6. doi: 10.1111/j.1365-2230.2008.02844.x. Epub 2008 Aug 12. Review.

PMID:
18702659
9.

[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
10.

A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia.

Nishibu A, Hashiguchi T, Yotsumoto S, Takahashi M, Nakamura K, Kanzaki T, Kaneko F.

Dermatology. 2003;207(2):178-81.

PMID:
12920369
11.

[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].

Fan HL, Ye XQ, Shi B, Zhang YL, Bian Z.

Zhonghua Kou Qiang Yi Xue Za Zhi. 2007 May;42(5):272-5. Chinese.

PMID:
17686277
12.

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P.

Eur J Hum Genet. 2001 May;9(5):355-63.

13.

A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.

Piccione M, Serra G, Sanfilippo C, Andreucci E, Sani I, Corsello G.

Minerva Pediatr. 2012 Feb;64(1):59-64.

PMID:
22350046
14.

Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

Hashiguchi T, Yotsumoto S, Kanzaki T.

Exp Dermatol. 2003 Aug;12(4):518-22.

PMID:
12930312
15.

[Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia].

Salas-Alanis JC, Cepeda-Valdés R, González-Santos A, Amaya-Guerra M, Kurban M, Christiano AM.

Rev Med Chil. 2011 Dec;139(12):1601-4. doi: /S0034-98872011001200011. Epub 2012 Mar 7. Spanish.

16.

Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

Gunadi, Miura K, Ohta M, Sugano A, Lee MJ, Sato Y, Matsunaga A, Hayashi K, Horikawa T, Miki K, Wataya-Kaneda M, Katayama I, Nishigori C, Matsuo M, Takaoka Y, Nishio H.

Pediatr Res. 2009 Apr;65(4):453-7. doi: 10.1203/PDR.0b013e3181991229.

PMID:
19127222
17.

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N.

Clin Genet. 1998 Mar;53(3):205-9.

PMID:
9630076
18.

A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle.

Drögemüller C, Peters M, Pohlenz J, Distl O, Leeb T.

J Mol Med (Berl). 2002 May;80(5):319-23. Epub 2002 Feb 20.

PMID:
12021844
19.

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

Huang C, Yang Q, Ke T, Wang H, Wang X, Shen J, Tu X, Tian J, Liu JY, Wang QK, Liu M.

J Hum Genet. 2006;51(12):1133-7. Epub 2006 Oct 26.

PMID:
17066260
20.

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle.

Drögemüller C, Distl O, Leeb T.

Genet Sel Evol. 2003;35 Suppl 1:S137-45. Review.

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