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Items: 1 to 20 of 117

1.

A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease.

Pengjun Z, Jianwen R, Biao Y.

Int J Dermatol. 2014 Mar;53(3):e204-5. doi: 10.1111/j.1365-4632.2012.05790.x. Epub 2013 Apr 28. No abstract available.

PMID:
23621824
2.

Novel mutation in the ATP2A2 gene in a Japanese Darier's disease patient with extremely hyperkeratotic lesions.

Miyabe C, Mitsuhashi Y, Saito M, Tsuboi R.

J Dermatol. 2012 Apr;39(4):401-3. doi: 10.1111/j.1346-8138.2011.01288.x. Epub 2011 Oct 31. No abstract available.

PMID:
22035154
3.

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier's disease.

Yang S, Sun LD, Liu HS, Wang JY, He PP, Li M, Gao M, Liu JB, Yang J, Wang ZX, Zhu YY, Lin D, Zhang XJ.

Arch Dermatol Res. 2004 Jun;296(1):21-4. Epub 2004 Apr 17.

PMID:
15095095
4.

Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease.

Shi HJ, Li M, Zhang GL, Xu SX, Shao MH, Gu Y, Du XF, Mu HJ, Xie P.

Clin Exp Dermatol. 2012 Aug;37(6):677-9. doi: 10.1111/j.1365-2230.2011.04311.x. Epub 2012 Feb 14. No abstract available.

PMID:
22329366
5.

Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.

Song J, Li M, Yang LJ, Zhang GL.

Arch Dermatol Res. 2010 May;302(4):311-4. doi: 10.1007/s00403-010-1042-7. Epub 2010 Mar 5.

PMID:
20204653
6.

Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease.

Lu FY, Xu L, Yin XG, Wan P, Zhang XD, Chen WW, Ding SP, Yao YG.

Int J Dermatol. 2011 Nov;50(11):1366-70. doi: 10.1111/j.1365-4632.2011.05129.x.

PMID:
22004489
7.

Two novel missense mutations of ATP2A2 in two Chinese patients with sporadic Darier disease.

Liang YH, Zhang QG, Liu QX.

Clin Exp Dermatol. 2015 Mar;40(2):201-3. doi: 10.1111/ced.12452. Epub 2014 Oct 4.

PMID:
25283811
8.

Identification of a novel mutation in a Chinese patient with mild Darier's disease.

Li CR, Cui PG, Jia H, Wang HS, Chen M, Zhou WQ, Gong JQ, Cao YH, Lin L.

Int J Dermatol. 2010 Nov;49(11):1286-8. doi: 10.1111/j.1365-4632.2009.04159.x. No abstract available.

PMID:
20964649
9.

A novel ATP2A2 missense mutation p.Asp254Gly in Darier disease restricted to the extremities.

Moriuchi R, Akiyama M, Onozuka T, Shimizu H.

J Am Acad Dermatol. 2008 May;58(5 Suppl 1):S116-8. doi: 10.1016/j.jaad.2007.05.007. No abstract available.

PMID:
18489043
10.

Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described.

Shi BJ, Xue M, Zhu YJ, Wang SP, Du Y, Chen DY, Diao QC.

J Eur Acad Dermatol Venereol. 2015 Feb;29(2):394-6. doi: 10.1111/jdv.12398. Epub 2014 Feb 19. No abstract available.

PMID:
24552170
11.

Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China.

Ren YQ, Gao M, Liang YH, Hou YX, Wang PG, Sun LD, Xu SX, Li W, Du WH, Zhou FS, Shen YJ, Yang S, Zhang XJ.

Arch Dermatol Res. 2006 Jul;298(2):58-63. Epub 2006 Mar 22. Review.

PMID:
16552539
12.

Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease.

HUO J, WANG X, DONG Y, WU J, LI X, LIU Y, XIAO S.

Eur J Dermatol. 2009 Sep-Oct;19(5):512-3. doi: 10.1684/ejd.2009.0730. Epub 2009 Jun 5. No abstract available.

PMID:
19502158
13.

Mutation analysis of the ATP2A2 gene in Chinese patients with Darier's disease.

Fu X, Liu H, Yan X, Yu Y, Zhang F.

J Eur Acad Dermatol Venereol. 2011 Mar;25(3):370-1. doi: 10.1111/j.1468-3083.2010.03741.x. No abstract available.

PMID:
20586837
14.

The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.

Shi BJ, Xue M, Zhong GS, Jiang Y, Chen DY, Feng J, Hao J, Diao QC.

Int J Dermatol. 2012 Sep;51(9):1074-7. doi: 10.1111/j.1365-4632.2012.05514.x.

PMID:
22909361
15.

Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis.

Ueo D, Hamada T, Hashimoto T, Hatano Y, Okamoto O, Fujiwara S.

J Dermatol. 2013 Apr;40(4):280-1. doi: 10.1111/1346-8138.12058. Epub 2013 Jan 5. No abstract available.

PMID:
23289714
16.

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.

Green EK, Gordon-Smith K, Burge SM, Grozeva D, Munro CS, Tavadia S, Jones L, Craddock N.

J Dermatol. 2013 Apr;40(4):259-66. doi: 10.1111/1346-8138.12082. Epub 2013 Jan 28.

PMID:
23356892
17.

Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease.

Fölster-Holst R, Nellen RG, Jensen JM, Poblete-Gutiérrez P, Steijlen PM, Schwarz T, Happle R, Van Geel M, Frank J.

Br J Dermatol. 2012 Feb;166(2):464-6. doi: 10.1111/j.1365-2133.2011.10593.x. No abstract available.

PMID:
21895618
18.

Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues.

Kaibuchi-Noda K, Sugiura K, Takeichi T, Miura S, Kagami S, Takama H, Hino H, Akiyama M.

Acta Derm Venereol. 2015 Mar;95(3):362-3. doi: 10.2340/00015555-1927. No abstract available.

19.

Novel mutations of the ATP2A2 gene in two families with Darier's disease.

Shi BJ, Feng J, Ma CC, Yan XN, Li WB, Wei YP, Hu G, Wang XL.

Arch Dermatol Res. 2009 Jan;301(1):27-30. doi: 10.1007/s00403-008-0910-x. Epub 2008 Nov 1.

PMID:
18979109
20.

Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change.

Racz E, Csikós M, Benko R, Kornseé Z, Kárpáti S.

J Dermatol Sci. 2005 Jun;38(3):231-4. Epub 2005 Apr 25. No abstract available.

PMID:
15927817
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