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Results: 1 to 20 of 103

1.

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y.

J Invest Dermatol. 2014 Jan;134(1):284-7. doi: 10.1038/jid.2013.302. Epub 2013 Jul 18. No abstract available.

PMID:
23867895
[PubMed - indexed for MEDLINE]
2.

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP.

Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3.

PMID:
23830519
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].

Sun X, Yin XZ, Wu LQ, Shi XL, Hu ZM, Liu XP, Pan Q, Dai HP, Xia K, Xia JH.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Oct;30(5):521-4. Chinese.

PMID:
16320579
[PubMed - indexed for MEDLINE]
Free Article
4.

A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.

Tsunemi Y, Hattori N, Saeki H, Adachi M, Komine M, Nakagawa H, Tamaki K.

J Dermatol. 2002 Dec;29(12):768-72.

PMID:
12532041
[PubMed - indexed for MEDLINE]
5.

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

Lind L, Lundström A, Hofer PA, Holmgren G.

Hum Mol Genet. 1994 Oct;3(10):1789-93.

PMID:
7531539
[PubMed - indexed for MEDLINE]
6.

Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.

Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K.

J Eur Acad Dermatol Venereol. 2009 Sep;23(9):1079-82. doi: 10.1111/j.1468-3083.2009.03175.x. Epub 2009 Mar 17.

PMID:
19470048
[PubMed - indexed for MEDLINE]
7.

[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].

Yin XZ, Zhang BR, Ding MP, Zhang H, Xia K, Hu ZM.

Yi Chuan. 2007 Mar;29(3):301-5. Chinese.

PMID:
17369150
[PubMed - indexed for MEDLINE]
8.

A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma.

Wang K, He CD, Song F, Liu J, Chen HD.

Int J Dermatol. 2010 Nov;49(11):1342-4. doi: 10.1111/j.1365-4632.2009.04295.x. No abstract available.

PMID:
20964665
[PubMed - indexed for MEDLINE]
9.

Hereditary palmoplantar keratoderma with deafness.

Fitzgerald DA, Verbov JL.

Br J Dermatol. 1996 May;134(5):939-42.

PMID:
8736341
[PubMed - indexed for MEDLINE]
10.

Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma.

Zeng YP, Chai WX, Fang K, Wang BX, Zuo YG.

Eur J Dermatol. 2011 Mar-Apr;21(2):268-9. doi: 10.1684/ejd.2010.1244. No abstract available.

PMID:
21489919
[PubMed - indexed for MEDLINE]
11.

Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

Kastl I, Anton-Lamprecht I, Gamborg Nielsen P.

Arch Dermatol Res. 1990;282(6):363-70.

PMID:
2260881
[PubMed - indexed for MEDLINE]
12.

Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later.

Küster W, Becker A.

Acta Derm Venereol. 1992;72(2):120-2.

PMID:
1350396
[PubMed - indexed for MEDLINE]
13.

Hereditary epidermolytic palmo-plantar keratoderma (Vörner type)--report of a family and review of the literature.

Requena L, Schoendorff C, Sanchez Yus E.

Clin Exp Dermatol. 1991 Sep;16(5):383-8. Review.

PMID:
1794193
[PubMed - indexed for MEDLINE]
14.

Isolated cases of palmoplantar keratoderma, Unna-Thost type.

Kansky A, Stanimirović A, Basta-Juzbasic A.

Cutis. 1992 Jun;49(6):406-8.

PMID:
1628506
[PubMed - indexed for MEDLINE]
15.

Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings.

Grilli R, Aguilar A, Escalonilla P, Soriano L, Fariña C, Martín L, Requena L.

Cutis. 2000 Mar;65(3):141-5. Review.

PMID:
10738633
[PubMed - indexed for MEDLINE]
16.

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, Fu H, Zhou Y, Guo B, Dong Y, Shen J, Zhang M, Yue Z, Liu F, Lin D, Gao T, Zhang A, Zhou W, Sun L, Yang S, Wang J, Cui Y, Zhang X.

J Invest Dermatol. 2013 Nov;133(11):2631-4. doi: 10.1038/jid.2013.198. Epub 2013 Apr 30. No abstract available.

PMID:
23633024
[PubMed - indexed for MEDLINE]
Free Article
17.

Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.

Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MH, Leigh IM.

Exp Dermatol. 1999 Oct;8(5):388-91.

PMID:
10536965
[PubMed - indexed for MEDLINE]
18.

Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity.

Cui Y, Yang S, He PP, Zhou WM, Li M, Gao M, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ.

J Dermatol Sci. 2004 Sep;35(3):233-5. No abstract available.

PMID:
15381248
[PubMed - indexed for MEDLINE]
19.

Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

Li M, Yang LJ, Hua HK, Zhu XH, Dai XY.

Clin Exp Dermatol. 2009 Jan;34(1):26-8. Epub 2007 Mar 14.

PMID:
17362238
[PubMed - indexed for MEDLINE]
20.

Palmoplantar keratoderma of Unna-Thost: response to biotin in one family.

Menni S, Saleh F, Piccinno R, Corbetta C, Melotti D.

Clin Exp Dermatol. 1992 Sep;17(5):337-8. No abstract available.

PMID:
1458638
[PubMed - indexed for MEDLINE]

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