BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 38157931)

  • 1. Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
    Wen D; Hunjan M; Bardhan A; Harper N; Ogboli M; Ozoemena L; Liu L; Fine JD; Chapple I; Balacco DL; Heagerty A
    J Invest Dermatol; 2024 Jun; 144(6):1334-1343.e14. PubMed ID: 38157931
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
    Kiritsi D; Kern JS; Schumann H; Kohlhase J; Has C; Bruckner-Tuderman L
    J Med Genet; 2011 Jul; 48(7):450-7. PubMed ID: 21357940
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    Yenamandra VK; Vellarikkal SK; Kumar M; Chowdhury MR; Jayarajan R; Verma A; Scaria V; Sivasubbu S; Ray SB; Dinda AK; Kabra M; Kaur P; Sharma VK; Sethuraman G
    J Dermatol Sci; 2017 Apr; 86(1):30-36. PubMed ID: 28087116
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
    Floeth M; Bruckner-Tuderman L
    Am J Hum Genet; 1999 Dec; 65(6):1530-7. PubMed ID: 10577906
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.
    Sproule TJ; Bubier JA; Grandi FC; Sun VZ; Philip VM; McPhee CG; Adkins EB; Sundberg JP; Roopenian DC
    PLoS Genet; 2014 Feb; 10(2):e1004068. PubMed ID: 24550734
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Laminin 332 in junctional epidermolysis bullosa.
    Kiritsi D; Has C; Bruckner-Tuderman L
    Cell Adh Migr; 2013; 7(1):135-41. PubMed ID: 23076207
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
    Yuen WY; Lemmink HH; van Dijk-Bos KK; Sinke RJ; Jonkman MF
    Br J Dermatol; 2011 Dec; 165(6):1314-22. PubMed ID: 21801158
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
    Posteraro P; De Luca N; Meneguzzi G; El Hachem M; Angelo C; Gobello T; Tadini G; Zambruno G; Castiglia D
    J Invest Dermatol; 2004 Oct; 123(4):639-48. PubMed ID: 15373767
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
    Nakano A; Chao SC; Pulkkinen L; Murrell D; Bruckner-Tuderman L; Pfendner E; Uitto J
    Hum Genet; 2002 Jan; 110(1):41-51. PubMed ID: 11810295
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
    Nakano A; Lestringant GG; Paperna T; Bergman R; Gershoni R; Frossard P; Kanaan M; Meneguzzi G; Richard G; Pfendner E; Uitto J; Pulkkinen L; Sprecher E
    J Am Acad Dermatol; 2002 Apr; 46(4):510-6. PubMed ID: 11907499
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.
    Condorelli AG; Fortugno P; Cianfarani F; Proto V; Di Zenzo G; Didona B; Zambruno G; Castiglia D
    Br J Dermatol; 2018 Jun; 178(6):1416-1422. PubMed ID: 28561256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
    Pulkkinen L; Christiano AM; Airenne T; Haakana H; Tryggvason K; Uitto J
    Nat Genet; 1994 Mar; 6(3):293-7. PubMed ID: 8012393
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
    Saraiya A; Yang CS; Kim J; Bercovitch L; Robinson-Bostom L; Telang G
    J Cutan Pathol; 2015 Aug; 42(8):559-63. PubMed ID: 25950805
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Independent
    Kiener S; Troyer H; Ruvolo D; Grest P; Soto S; Letko A; Jagannathan V; Leeb T; Mauldin EA; Yang C; Rostaher A
    Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895184
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
    Kivirikko S; McGrath JA; Baudoin C; Aberdam D; Ciatti S; Dunnill MG; McMillan JR; Eady RA; Ortonne JP; Meneguzzi G
    Hum Mol Genet; 1995 May; 4(5):959-62. PubMed ID: 7633458
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
    Nakamura H; Sawamura D; Goto M; Nakamura H; Kida M; Ariga T; Sakiyama Y; Tomizawa K; Mitsui H; Tamaki K; Shimizu H
    Int J Mol Med; 2006 Aug; 18(2):333-7. PubMed ID: 16820943
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.