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Results: 1 to 20 of 278

Similar articles for PubMed (Select 16634910)

1.

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.

Sawamura D, Nizeki H, Miyagawa S, Shinkuma S, Shimizu H.

Br J Dermatol. 2006 May;154(5):995-7. No abstract available.

PMID:
16634910
2.

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
3.
4.

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
5.

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
6.

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
7.

A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.

Deng W, Chen S, Lu C, Zhou X, Hu B, Chen M, Lai W, Wang Y.

J Dermatol Sci. 2008 Feb;49(2):166-9. Epub 2007 Sep 27. No abstract available.

PMID:
17900868
8.

Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.

Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H.

Br J Dermatol. 2006 Oct;155(4):834-7. No abstract available.

PMID:
16965438
9.

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. Epub 2009 May 27.

PMID:
19486043
10.

Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.

Horev L, Waran Lalin T, Martinez-Mir A, Bagheri BA, Tadin-Strapps M, Schneiderman PI, Grossman ME, Bickers DR, Christiano AM.

Clin Exp Dermatol. 2003 Jan;28(1):80-4.

PMID:
12558638
11.

A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.

Ren X, Liu JY, Zhai LY, Yao Q, Dai X, Cai Z, Liu P, Sun K, Huang C, Wang QK, Liu M.

Br J Dermatol. 2008 Mar;158(3):618-20. No abstract available.

PMID:
18067480
12.

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
13.

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.

Suzuki S, Shimomura Y, Yamamoto Y, Kariya N, Shibuya M, Ito M, Fujiwara H.

Br J Dermatol. 2006 Oct;155(4):838-40. No abstract available.

PMID:
16965439
14.

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.

J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8.

PMID:
19665875
15.

A novel insertion mutation in COL7A1 identified in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Sato-Matsumura KC, Sawamura D, Goto M, Goto M, Nakamura H, Shimizu H.

Acta Derm Venereol. 2003;83(2):137-8. No abstract available.

PMID:
12735646
16.

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
17.

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.

Pediatr Dermatol. 2009 Jan-Feb;26(1):115-7. doi: 10.1111/j.1525-1470.2008.00846.x.

PMID:
19250433
18.

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

Cuadrado-Corrales N, Garcia M, Escamez MJ, Carrillo A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.

Hum Genet. 2009 Aug;126(2):335. No abstract available.

PMID:
19694005
19.

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

Sato-Matsumura KC, Yasukawa K, Tomita Y, Shimizu H.

Arch Dermatol. 2002 Feb;138(2):269-71. No abstract available.

PMID:
11843659
20.

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. Epub 2006 Mar 24.

PMID:
16557343
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