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 *

159 related articles for article (PubMed ID: 21573221)

  • 1. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.
    Mömke S; Kerkmann A; Wöhlke A; Ostmeier M; Hewicker-Trautwein M; Ganter M; Kijas J; ; Distl O
    PLoS One; 2011 May; 6(5):e18943. PubMed ID: 21573221
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online.
    Kon A; Pulkkinen L; Hara M; Tamai K; Tagami H; Hashimoto I; Uitto J
    Hum Mutat; 1998; 12(4):288. PubMed ID: 10660342
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.
    Jeon IK; Kim SE; Kim SC
    J Dermatol; 2014 Apr; 41(4):322-4. PubMed ID: 24533970
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
    Castori M; Floriddia G; De Luca N; Pascucci M; Ghirri P; Boccaletti V; El Hachem M; Zambruno G; Castiglia D
    Br J Dermatol; 2008 Jan; 158(1):38-44. PubMed ID: 17916201
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse.
    Spirito F; Charlesworth A; Linder K; Ortonne JP; Baird J; Meneguzzi G
    J Invest Dermatol; 2002 Sep; 119(3):684-91. PubMed ID: 12230513
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).
    Aberdam D; Galliano MF; Vailly J; Pulkkinen L; Bonifas J; Christiano AM; Tryggvason K; Uitto J; Epstein EH; Ortonne JP
    Nat Genet; 1994 Mar; 6(3):299-304. PubMed ID: 8012394
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Herlitz junctional epidermolysis bullosa.
    Laimer M; Lanschuetzer CM; Diem A; Bauer JW
    Dermatol Clin; 2010 Jan; 28(1):55-60. PubMed ID: 19945616
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
    Vidal F; Baudoin C; Miquel C; Galliano MF; Christiano AM; Uitto J; Ortonne JP; Meneguzzi G
    Genomics; 1995 Nov; 30(2):273-80. PubMed ID: 8586427
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.
    Graves KT; Henney PJ; Ennis RB
    Anim Genet; 2009 Feb; 40(1):35-41. PubMed ID: 19016681
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
    Pulkkinen L; Meneguzzi G; McGrath JA; Xu Y; Blanchet-Bardon C; Ortonne JP; Christiano AM; Uitto J
    J Invest Dermatol; 1997 Aug; 109(2):232-7. PubMed ID: 9242513
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.
    Pulkkinen L; McGrath J; Airenne T; Haakana H; Tryggvason K; Kivirikko S; Meneguzzi G; Ortonne JP; Christiano AM; Uitto J
    Mol Med; 1997 Feb; 3(2):124-35. PubMed ID: 9085255
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.
    Vailly J; Pulkkinen L; Miquel C; Christiano AM; Gerecke D; Burgeson RE; Uitto J; Ortonne JP; Meneguzzi G
    J Invest Dermatol; 1995 Apr; 104(4):462-6. PubMed ID: 7706759
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds.
    Milenkovic D; Chaffaux S; Taourit S; Guérin G
    Genet Sel Evol; 2003; 35(2):249-56. PubMed ID: 12633536
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Cserhalmi-Friedman PB; Tang M; Ryan MC; Uitto J; Christiano AM
    Lab Invest; 1998 Sep; 78(9):1067-76. PubMed ID: 9759651
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.