Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 188

1.

A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

Menoud A, Welle M, Tetens J, Lichtner P, Drögemüller C.

PLoS One. 2012;7(6):e38823. doi: 10.1371/journal.pone.0038823. Epub 2012 Jun 8.

2.

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

Lin Y, Chen XJ, Liu W, Gong B, Xie J, Xiong JH, Cheng J, Duan XL, Lin ZC, Huang LL, Wan HY, Liu XQ, Song LH, Yang ZL.

PLoS One. 2012;7(11):e50579. doi: 10.1371/journal.pone.0050579. Epub 2012 Nov 30.

3.

A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Park J, Chae H, Kim M, Kim Y, Park IY, Shin JC, Park YM.

Genet Mol Res. 2013 Mar 11;12(1):678-82. doi: 10.4238/2013.March.11.15.

4.

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.

J Dermatol Sci. 2009 May;54(2):114-20. doi: 10.1016/j.jdermsci.2009.01.006. Epub 2009 Mar 3.

PMID:
19261445
5.

A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.

Pausch H, Ammermüller S, Wurmser C, Hamann H, Tetens J, Drögemüller C, Fries R.

BMC Genet. 2016 Dec 1;17(1):149.

7.
8.

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.

Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA.

Br J Dermatol. 2003 Oct;149(4):810-8.

PMID:
14616374
9.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PMID:
17425959
10.

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
11.

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.

Mellerio JE, Salas-Alanis JC, Amaya-Guerra M, Tamez E, Ashton GH, Mohammedi R, Eady RA, McGrath JA.

Exp Dermatol. 1999 Feb;8(1):22-9.

PMID:
10206718
12.

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
13.
14.

Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.

Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA.

Br J Dermatol. 1998 May;138(5):852-8.

PMID:
9666834
15.

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.

Br J Dermatol. 2005 May;152(5):879-86.

PMID:
15888141
16.
17.

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
18.

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J.

J Invest Dermatol. 2017 Mar;137(3):660-669. doi: 10.1016/j.jid.2016.10.023. Epub 2016 Oct 27.

PMID:
27899325
19.

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M.

J Mol Diagn. 2010 May;12(3):377-9. doi: 10.2353/jmoldx.2010.090145. Epub 2010 Feb 26.

20.

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Varki R, Sadowski S, Uitto J, Pfendner E.

J Med Genet. 2007 Mar;44(3):181-92. Epub 2006 Sep 13.

Supplemental Content

Support Center