496 related articles for article (PubMed ID: 19250433)
1. 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; 26(1):115-7. PubMed ID: 19250433
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15113589
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 17425959
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N; Murrell DF
Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
[TBL] [Abstract][Full Text] [Related]
5. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N; Liu L; Dopping-Hepenstal PJ; Lai-Cheong JE; Wong A; Nanda A; Moss C; Martinéz AE; Mellerio JE; McGrath JA
Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 15888141
[TBL] [Abstract][Full Text] [Related]
7. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
Schumann H; Has C; Kohlhase J; Bruckner-Tuderman L
Br J Dermatol; 2008 Aug; 159(2):464-9. PubMed ID: 18565177
[TBL] [Abstract][Full Text] [Related]
8. 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; 21(2):170-2. PubMed ID: 21382783
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16965438
[No Abstract] [Full Text] [Related]
10. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
Kraemer L; Wajid M; Christiano AM
Eur J Dermatol; 2006; 16(6):615-9. PubMed ID: 17229600
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 19261445
[TBL] [Abstract][Full Text] [Related]
12. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Uitto J
Acta Derm Venereol; 2011 May; 91(3):259-61. PubMed ID: 21547333
[No Abstract] [Full Text] [Related]
13. Pretibial epidermolysis bullosa.
Rizzo C; Anandasabapathy N; Walters RF; Rosenman K; Kamino H; Prystowsky S; Schaffer JV
Dermatol Online J; 2008 Oct; 14(10):26. PubMed ID: 19061625
[TBL] [Abstract][Full Text] [Related]
14. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
Drera B; Castiglia D; Zoppi N; Gardella R; Tadini G; Floriddia G; De Luca N; Pedicelli C; Barlati S; Zambruno G; Colombi M
Clin Genet; 2006 Oct; 70(4):339-47. PubMed ID: 16965329
[TBL] [Abstract][Full Text] [Related]
15. Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Rodríguez FA; Gana MJ; Yubero MJ; Zillmann G; Krämer SM; Catalán J; Rubio-Astudillo J; González S; Liu L; Ozoemena L; Mellerio JE; McGrath JA; Palisson F; Conget P
J Dermatol Sci; 2012 Feb; 65(2):149-52. PubMed ID: 22209565
[No Abstract] [Full Text] [Related]
16. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
Leverkus M; Ambach A; Hoefeld-Fegeler M; Kohlhase J; Schmidt E; Schumann H; Has C; Gollnick H
Br J Dermatol; 2011 May; 164(5):1104-6. PubMed ID: 21275939
[TBL] [Abstract][Full Text] [Related]
17. [Localised de novo dominant dystrophic epidermolysis bullosa].
Bursztejn AC; Pinault AL; Le Louarn Y; Lacour JP; Charlesworth A; Meneguzzi G; Truchetet F
Ann Dermatol Venereol; 2008 Mar; 135(3):195-9. PubMed ID: 18374850
[TBL] [Abstract][Full Text] [Related]
18. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
Zhu KJ; Zhu CY; Zhou Y; Fan YM
Genet Mol Res; 2014 Sep; 13(3):7587-92. PubMed ID: 25222259
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19486043
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 16634910
[No Abstract] [Full Text] [Related]
[Next] [New Search]