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Items: 1 to 20 of 362

1.

Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).

Iwata T, Nakano H, Nakano A, Toyomaki Y, Tamai K, Tomita Y.

J Dermatol. 2006 Aug;33(8):550-6.

PMID:
16923137
2.

A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.

Zhang XJ, Song YX, Zhang XQ, Yang S, Li M, Li CR, Yang CJ, Yang J.

Clin Exp Dermatol. 2003 Jul;28(4):437-9.

PMID:
12823310
3.

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.

Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H.

J Dermatol Sci. 2004 May;34(3):195-200.

PMID:
15113589
4.

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

Lee JY, Li C, Chao SC, Pulkkinen L, Uitto J.

Arch Dermatol Res. 2000 Apr;292(4):159-63.

PMID:
10836608
5.
6.

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T Jr, Bruckner-Tuderman L.

Hum Mol Genet. 1997 Jul;6(7):1125-35.

7.

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM.

Clin Exp Dermatol. 2004 May;29(3):304-7.

PMID:
15115517
9.

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.

Jiang W, Sun Y, Li S, Chen XX, Bu DF, Zhu XJ.

Br J Dermatol. 2005 Jun;152(6):1357-9. No abstract available.

PMID:
15949010
10.

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H.

J Hum Genet. 2005;50(10):543-6. Erratum in: J Hum Genet. 2006;51(9):839.

PMID:
16189623
11.

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

Murata T, Masunaga T, Shimizu H, Takizawa Y, Ishiko A, Hatta N, Nishikawa T.

Arch Dermatol Res. 2000 Oct;292(10):477-81.

PMID:
11142768
12.

Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.

von Bartenwerffer W, Has C, Arin MJ, Tantcheva-Poór I, Kreuter A, Kremer K, Arshah T, Hoffmann M, Eming SA, Kohlhase J, Krieg T, Bruckner-Tuderman L, Hartmann K.

Eur J Dermatol. 2011 Mar-Apr;21(2):170-2. doi: 10.1684/ejd.2010.1247.

PMID:
21382783
13.

A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.

Kraemer L, Wajid M, Christiano AM.

Eur J Dermatol. 2006 Nov-Dec;16(6):615-9.

14.

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N, Murrell DF.

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Review.

PMID:
18558993
15.

A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.

Shi BJ, Feng J.

Clin Exp Dermatol. 2009 Dec;34(8):e975-8. doi: 10.1111/j.1365-2230.2009.03271.x.

PMID:
19486043
16.
17.
18.

COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Sawamura D, Sato-Matsumura K, Shibata S, Tashiro A, Furue M, Goto M, Sakai K, Akiyama M, Nakamura H, Shimizu H.

J Hum Genet. 2006;51(5):418-23.

PMID:
16557343
19.

Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.

Ee HL, Liu L, Goh CL, McGrath JA.

J Am Acad Dermatol. 2007 May;56(5 Suppl):S77-81. Review.

PMID:
17434045
20.

Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa.

Koga H, Hamada T, Ishii N, Fukuda S, Sakaguchi S, Nakano H, Tamai K, Sawamura D, Hashimoto T.

J Dermatol. 2011 May;38(5):489-92. doi: 10.1111/j.1346-8138.2010.01008.x.

PMID:
21352278
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