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Items: 1 to 20 of 170

1.

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T.

Hum Mol Genet. 1999 Sep;8(9):1621-30.

PMID:
10441324
2.

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

Jacobsen NJ, Lyons I, Hoogendoorn B, Burge S, Kwok PY, O'Donovan MC, Craddock N, Owen MJ.

Hum Mol Genet. 1999 Sep;8(9):1631-6.

PMID:
10441325
3.

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A, Burge S, Monk S, Hovnanian A.

Hum Mol Genet. 1999 Sep;8(9):1611-9.

PMID:
10441323
4.

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
5.

Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene.

Pećina-Slaus N, Milavec-Puretić V, Kubat M, Furac I, Karija M, Fischer-Zigmund M, Lipozencić J.

Coll Antropol. 2003 Jun;27(1):125-33.

PMID:
12974140
6.

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A.

Nat Genet. 1999 Mar;21(3):271-7.

PMID:
10080178
7.

A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation.

Wada T, Shirakata Y, Takahashi H, Murakami S, Iizuka H, Suzuki H, Hashimoto K.

Br J Dermatol. 2003 Jul;149(1):185-8.

PMID:
12890216
8.

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

Chao SC, Yang MH, Lee JY.

Br J Dermatol. 2002 Jun;146(6):958-63.

PMID:
12072062
9.

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G.

Exp Dermatol. 2001 Feb;10(1):19-27.

PMID:
11168576
10.

Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.

Rácz E, Csikós M, Kornsée Z, Horváth A, Kárpáti S.

Exp Dermatol. 2004 Jun;13(6):396-9.

PMID:
15186327
11.

Novel mutations of ATP2A2 gene in Japanese patients of Darier's disease.

Takahashi H, Atsuta Y, Sato K, Ishida-Yamamoto A, Suzuki H, Iizuka H.

J Dermatol Sci. 2001 Jul;26(3):169-72.

PMID:
11390201
12.

Novel mutations in two families with Darier's disease.

Amichai B, Karpati M, Goldman B, Peleg L.

Int J Dermatol. 2007 Jan;46(1):64-7.

PMID:
17214724
13.

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
14.

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
15.

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
16.

Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder.

Jacobsen NJ, Franks EK, Elvidge G, Jones I, McCandless F, O'Donovan MC, Owen MJ, Craddock N.

Mol Psychiatry. 2001 Jan;6(1):92-7.

PMID:
11244492
17.

Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes.

Godic A, Strazisar M, Zupan A, Korosec B, Kansky A, Glavac D.

Eur J Dermatol. 2010 May-Jun;20(3):271-5. doi: 10.1684/ejd.2010.0913. Epub 2010 Apr 27.

PMID:
20423818
18.

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability.

Onozuka T, Sawamura D, Yokota K, Shimizu H.

Br J Dermatol. 2004 Apr;150(4):652-7.

PMID:
15099360
19.

Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.

Klausegger A, Nischler E, Wagner RN, Pletschacher F, Hintner H, Bauer JW.

Arch Dermatol Res. 2011 Jul;303(5):371-4. doi: 10.1007/s00403-011-1148-6. Epub 2011 Apr 26.

PMID:
21519848
20.

Mutations in the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease.

Dhitavat J, Dode L, Leslie N, Sakuntabhai A, Lorette G, Hovnanian A.

J Invest Dermatol. 2003 Sep;121(3):486-9.

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