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There are 142394 results for: content related to: E210K mutation in the gene encoding the β3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

  1. Epidermolysis Bullosa

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Peter M. Royce, Beat Steinmann, Pages: 687–725, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch15

  2. Genetic Blistering Diseases

    Rook's Textbook of Dermatology, Seventh Edition

    R. A. J. Eady, J-D. Fine, S. M. Burge, Pages: 1993–2028, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch40

  3. Epidermolysis Bullosa

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Jemima E. Mellerio, Jacqueline E. Denyer, Pages: 118.1–118.34, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch118

  4. You have free access to this content
    Hemidesmosomal variants of epidermolysis bullosa

    Experimental Dermatology

    Volume 7, Issue 2-3, June 1998, Pages: 46–64, L. Pulkkinen and J. Uitto

    Version of Record online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1998.tb00304.x

  5. Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

    Prenatal Diagnosis

    Volume 23, Issue 6, June 2003, Pages: 447–456, Ellen G. Pfendner, Aoi Nakano, Leena Pulkkinen, Angela M. Christiano and Jouni Uitto

    Version of Record online : 28 APR 2003, DOI: 10.1002/pd.619

  6. Molecular pathology of the cutaneous basement membrane zone

    Clinical and Experimental Dermatology

    Volume 24, Issue 1, January 1999, Pages: 25–32, Mellerio

    Version of Record online : 25 DEC 2001, DOI: 10.1046/j.1365-2230.1999.00400.x

  7. Progress in epidermolysis bullosa: Genetic classification and clinical implications

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 131C, Issue 1, 15 November 2004, Pages: 61–74, Jouni Uitto and Gabriele Richard

    Version of Record online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30035

  8. Basement membranes in development and disease

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 90, Issue 1, March 2010, Pages: 8–31, Fenny Wiradjaja, Tia DiTommaso and Ian Smyth

    Version of Record online : 18 MAR 2010, DOI: 10.1002/bdrc.20172

  9. Laminins and human disease

    Microscopy Research and Technique

    Volume 51, Issue 3, 1 November 2000, Pages: 262–279, Kelly Ann Mcgowan and M. Peter Marinkovich

    Version of Record online : 10 OCT 2000, DOI: 10.1002/1097-0029(20001101)51:3<262::AID-JEMT6>3.0.CO;2-V

  10. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)

    Human Mutation

    Volume 6, Issue 1, 1995, Pages: 77–84, Leena Pulkkinen, John A. McGrath, Angela M. Christiano and Jouni Uitto

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380060115

  11. Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa

    Experimental Dermatology

    Volume 6, Issue 2, April 1997, Pages: 70–74, P. B. Cserhalmi, A. Horvath, V. Boros, Z. Sapi, M. Kormendi, A. M. Christiano and S. Karpati

    Version of Record online : 11 APR 2006, DOI: 10.1111/j.1600-0625.1997.tb00149.x

  12. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

    British Journal of Dermatology

    Volume 136, Issue 6, June 1997, Pages: 817–822, J.R. MCMILLAN, J.A. MCGRATH, L. PULKKINEN, A. KON, R.E. BURGESON, J-P. ORTONNE, G. MENEGUZZI, J. UITTO and R.A.J. EADY

    Version of Record online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1997.01837.x

  13. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

    Prenatal Diagnosis

    Volume 15, Issue 7, July 1995, Pages: 647–654, John A. McGrath, James R. McMillan, M. Giles S. Dunnill, Leena Pulkkinen, Angela M. Christiano, Charles H. Rodeck, Robin A. J. Eady and Dr. Jouni Uitto

    Version of Record online : 14 DEC 2005, DOI: 10.1002/pd.1970150710

  14. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele

    British Journal of Dermatology

    Volume 136, Issue 5, May 1997, Pages: 674–677, G.H.S. ASHTON, J.E. MELLERIO, M.G.S. DUNNILL, L. PULKKINEN, A.M. CHRISTIANO, J. UITTO, R.A.J. EADY and J.A. McGRATH

    Version of Record online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1997.6541616.x

  15. MUTATION-BASED PRENATAL DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA

    Prenatal Diagnosis

    Volume 17, Issue 4, April 1997, Pages: 343–354, ANGELA M. CHRISTIANO, LEENA PULKKINEN, JOHN A. MCGRATH and JOUNI UITTO

    Version of Record online : 4 DEC 1998, DOI: 10.1002/(SICI)1097-0223(199704)17:4<343::AID-PD73>3.0.CO;2-7

  16. Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene

    Experimental Dermatology

    Volume 7, Issue 2-3, June 1998, Pages: 105–111, P. B. Cserhalmi-Friedman, H. Baden, R. E. Burgeson and A. M. Christiano

    Version of Record online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1998.tb00309.x

  17. Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa

    British Journal of Dermatology

    Volume 138, Issue 4, April 1998, Pages: 661–666, Mellerio, Denyer, Atherton, Eady and Mcgrath

    Version of Record online : 4 JAN 2002, DOI: 10.1046/j.1365-2133.1998.02182.x

  18. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa

    Experimental Dermatology

    Volume 9, Issue 4, August 2000, Pages: 290–297, P. B. Cserhalmi-Friedman, Y. Tang, A. Adler, L. Krey, J. A. Grifo and A. M. Christiano

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1600-0625.2000.009004290.x

  19. You have free access to this content
    Differential cytokine modulation of the genes LAMA3, LAMB3, and LAMC2, encoding the constitutive polypeptides, α3, β3, and γ2, of human laminin 5 in epidermal keratinocytes

    FEBS Letters

    Volume 368, Issue 3, July 24, 1995, Pages: 556–558,

    Version of Record online : 7 MAR 2000, DOI: 10.1016/0014-5793(95)00740-Z

  20. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population

    British Journal of Dermatology

    Volume 158, Issue 1, January 2008, Pages: 38–44, M. Castori, G. Floriddia, N. De Luca, M. Pascucci, P. Ghirri, V. Boccaletti, M. El Hachem, G. Zambruno and D. Castiglia

    Version of Record online : 4 OCT 2007, DOI: 10.1111/j.1365-2133.2007.08208.x