BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 20184583)

  • 1. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
    Escámez MJ; García M; Cuadrado-Corrales N; Llames SG; Charlesworth A; De Luca N; Illera N; Sánchez-Jimeno C; Holguín A; Duarte B; Trujillo-Tiebas MJ; Vicario JL; Santiago JL; Hernández-Martín A; Torrelo A; Castiglia D; Ayuso C; Larcher F; Jorcano JL; Meana A; Meneguzzi G; Zambruno G; Del Rio M
    Br J Dermatol; 2010 Jul; 163(1):155-61. PubMed ID: 20184583
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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. PubMed ID: 19665875
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
    van den Akker PC; Mellerio JE; Martinez AE; Liu L; Meijer R; Dopping-Hepenstal PJ; van Essen AJ; Scheffer H; Hofstra RM; McGrath JA; Jonkman MF
    J Med Genet; 2011 Mar; 48(3):160-7. PubMed ID: 21113014
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
    Kern JS; Kohlhase J; Bruckner-Tuderman L; Has C
    J Invest Dermatol; 2006 May; 126(5):1006-12. PubMed ID: 16484981
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Ishiko A; Masunaga T; Ota T; Nishikawa T
    Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
    Posteraro P; Pascucci M; Colombi M; Barlati S; Giannetti A; Paradisi M; Mustonen A; Zambruno G; Castiglia D
    Biochem Biophys Res Commun; 2005 Dec; 338(3):1391-401. PubMed ID: 16271705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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. PubMed ID: 16965439
    [No Abstract]   [Full Text] [Related]  

  • 18. Novel and recurrent COL7A1 mutation in a Polish population.
    Wertheim-Tysarowska K; Sobczyńska-Tomaszewska A; Kowalewski C; Kutkowska-Kaźmierczak A; Woźniak K; Niepokój K; Klausegger A; Sypniewska-Jutkiewicz J; Stępień A; Bal J
    Eur J Dermatol; 2012; 22(1):23-8. PubMed ID: 22266148
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 19694005
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Garcia M; Escamez MJ; Cuadrado-Corrales N; Carrillo A; Trujillo-Tiebas MJ; Ayuso C; Del Rio M
    Hum Genet; 2009 Aug; 126(2):334-5. PubMed ID: 19694004
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 14.