BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

259 related articles for article (PubMed ID: 11480251)

  • 1. Mutation analysis in the family of a Taiwanese boy with with epidermolysis bullosa simplex dowling-meara.
    Ning CC; Chao SC; Uitto J; Shieh CC; Lee JY
    J Formos Med Assoc; 2001 Jun; 100(6):407-11. PubMed ID: 11480251
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
    Csikós M; Szalai Z; Becker K; Sebõk B; Schneider I; Horváth A; Kárpáti S
    Exp Dermatol; 2004 Mar; 13(3):185-91. PubMed ID: 14987259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
    Chao SC; Yang MH; Lee SF
    J Formos Med Assoc; 2002 Apr; 101(4):287-90. PubMed ID: 12101866
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
    Jerábková B; Marek J; Bucková H; Kopecková L; Veselý K; Valícková J; Fajkus J; Fajkusová L
    Br J Dermatol; 2010 May; 162(5):1004-13. PubMed ID: 20030639
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
    Bergman R; Harel A; Sprecher E
    J Am Acad Dermatol; 2007 Sep; 57(3):463-6. PubMed ID: 17707151
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
    Müller FB; Anton-Lamprecht I; Küster W; Korge BP
    J Invest Dermatol; 1999 Jun; 112(6):988-90. PubMed ID: 10383750
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
    Shemanko CS; Mellerio JE; Tidman MJ; Lane EB; Eady RA
    J Invest Dermatol; 1998 Nov; 111(5):893-5. PubMed ID: 9804355
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
    Shemanko CS; Horn HM; Keohane SG; Hepburn N; Kerr AI; Atherton DJ; Tidman MJ; Lane EB
    Br J Dermatol; 2000 Feb; 142(2):315-20. PubMed ID: 10730767
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
    García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M
    Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
    Moog U; de Die-Smulders CE; Scheffer H; van der Vlies P; Henquet CJ; Jonkman MF
    Am J Med Genet; 1999 Oct; 86(4):376-9. PubMed ID: 10494094
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
    Yasukawa K; Sawamura D; Goto M; Nakamura H; Jung SY; Kim SC; Shimizu H
    Br J Dermatol; 2006 Aug; 155(2):313-7. PubMed ID: 16882168
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
    Müller FB; Küster W; Wodecki K; Almeida H; Bruckner-Tuderman L; Krieg T; Korge BP; Arin MJ
    Hum Mutat; 2006 Jul; 27(7):719-20. PubMed ID: 16786515
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
    Irvine AD; McKenna KE; Bingham A; Nevin NC; Hughes AE
    J Invest Dermatol; 1997 Dec; 109(6):815-6. PubMed ID: 9406827
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation.
    Tay YK; Weston WL
    Pediatr Dermatol; 1996; 13(4):306-9. PubMed ID: 8844751
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
    Titeux M; Mazereeuw-Hautier J; Hadj-Rabia S; Prost C; Tonasso L; Fraitag S; de Prost Y; Hovnanian A; Bodemer C
    J Invest Dermatol; 2006 Apr; 126(4):773-6. PubMed ID: 16439965
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Epidermolysis bullosa simplex Dowling-Meara].
    Frangu M; Gedde-Dahl T; Verder H
    Ugeskr Laeger; 2006 Nov; 168(48):4222-4. PubMed ID: 17147951
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
    Premaratne C; Klingberg S; Glass I; Wright K; Murrell D
    Australas J Dermatol; 2002 Feb; 43(1):28-34. PubMed ID: 11869205
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
    Rugg EL; Rachet-Préhu MO; Rochat A; Barrandon Y; Goossens M; Lane EB; Hovnanian A
    Eur J Hum Genet; 1999 Apr; 7(3):293-300. PubMed ID: 10234505
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
    Hamada T; Kawano Y; Szczecinska W; Wozniak K; Yasumoto S; Kowalewski C; Hashimoto T
    Arch Dermatol Res; 2005 Jun; 296(12):577-9. PubMed ID: 15827748
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.