These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 17344927)

  • 1. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
    Murrell DF; Pasmooij AM; Pas HH; Marr P; Klingberg S; Pfendner E; Uitto J; Sadowski S; Collins F; Widmer R; Jonkman MF
    J Invest Dermatol; 2007 Jul; 127(7):1772-5. PubMed ID: 17344927
    [No Abstract]   [Full Text] [Related]  

  • 2. New versatile monoclonal antibodies against type XVII collagen endodomain for diagnosis and subtyping COL17A1-associated junctional epidermolysis bullosa.
    Yuen WY; Di Zenzo G; Jonkman MF; Pas HH
    J Eur Acad Dermatol Venereol; 2016 Aug; 30(8):1426-7. PubMed ID: 26334130
    [No Abstract]   [Full Text] [Related]  

  • 3. Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.
    Kasai H; Sasaki T; Matsuzaki H; Yoshioka T; Nagao K; Amagai M; Ishiko A; Kubo A
    J Dermatol; 2015 Mar; 42(3):323-5. PubMed ID: 25573436
    [No Abstract]   [Full Text] [Related]  

  • 4. Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa.
    Yao YY; Zhang Y; Xie XH; Chen L; Zhu F; Zhou M
    Curr Med Sci; 2020 Aug; 40(4):795-800. PubMed ID: 32862392
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal dominant junctional epidermolysis bullosa.
    Almaani N; Liu L; Dopping-Hepenstal PJ; Lovell PA; Lai-Cheong JE; Graham RM; Mellerio JE; McGrath JA
    Br J Dermatol; 2009 May; 160(5):1094-7. PubMed ID: 19120338
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
    Hou PC; Tu WT; Chen PC; Guevara BEK; Yen YF; Huang HY; Lee JY; Tang MJ; Kuo PL; Mcgrath JA; Hsu CK
    Eur J Dermatol; 2021 Apr; 31(2):267-269. PubMed ID: 34001479
    [No Abstract]   [Full Text] [Related]  

  • 7. A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa.
    Hoffmann J; Casetti F; Reimer A; Leppert J; Grüninger G; Has C
    Acta Derm Venereol; 2019 Apr; 99(4):460-461. PubMed ID: 30673110
    [No Abstract]   [Full Text] [Related]  

  • 8. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
    Pasmooij AM; Pas HH; Jansen GH; Lemmink HH; Jonkman MF
    Br J Dermatol; 2007 May; 156(5):861-70. PubMed ID: 17263807
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin.
    Cifuentes L; Kiritsi D; Chen W; Pennino J; Ring J; Weidinger S; Has C
    Br J Dermatol; 2013 Jul; 169(1):195-8. PubMed ID: 23834121
    [No Abstract]   [Full Text] [Related]  

  • 10. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa.
    Mitsui H; Watanabe T; Komine M; Nakamura H; Shimizu H; Tamaki K
    J Am Acad Dermatol; 2005 Feb; 52(2):371-3. PubMed ID: 15692495
    [No Abstract]   [Full Text] [Related]  

  • 11. Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.
    Vaz SO; Dâmaso C; Liu L; Ozoemena L; Mota-Vieira L
    Eur J Dermatol; 2018 Jun; 28(3):412-413. PubMed ID: 29952287
    [No Abstract]   [Full Text] [Related]  

  • 12. Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.
    Vanotti S; Chiaverini C; Charlesworth A; Bonnet N; Berbis P; Meneguzzi G; Lacour JP
    Br J Dermatol; 2013 Sep; 169(3):714-5. PubMed ID: 23550562
    [No Abstract]   [Full Text] [Related]  

  • 13. Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.
    Mellerio JE; Denyer JE; Atherton DJ; Eady RA; McGrath JA
    Br J Dermatol; 1998 Apr; 138(4):661-6. PubMed ID: 9640376
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.
    Yuen WY; Pas HH; Sinke RJ; Jonkman MF
    Br J Dermatol; 2011 Jun; 164(6):1280-4. PubMed ID: 21466533
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.
    Yuen WY; Pasmooij AM; Stellingsma C; Jonkman MF
    Acta Derm Venereol; 2012 Nov; 92(6):695-6. PubMed ID: 22434185
    [No Abstract]   [Full Text] [Related]  

  • 16. Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa.
    Li Y; Shen J; Liang J; Zheng L; Chen F; Yao Z; Li M
    J Dermatol; 2020 Mar; 47(3):e82-e83. PubMed ID: 31919892
    [No Abstract]   [Full Text] [Related]  

  • 17. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
    Vahidnezhad H; Youssefian L; Saeidian AH; Touati A; Sotoudeh S; Jazayeri A; Guy A; Lovell PA; Liu L; Kariminejad A; McGrath JA; Zeinali S; Uitto J
    Hum Mutat; 2018 Oct; 39(10):1349-1354. PubMed ID: 30016581
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
    Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa.
    Fu CL; Giudice GJ; Van den Bergh F
    J Invest Dermatol; 2006 Jan; 126(1):232-4. PubMed ID: 16417243
    [No Abstract]   [Full Text] [Related]  

  • 20. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    McGrath JA; Gatalica B; Li K; Dunnill MG; McMillan JR; Christiano AM; Eady RA; Uitto J
    Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.