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There are 23200 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. 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

    Article first published online : 28 APR 2003, DOI: 10.1002/pd.619

  2. 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

    Article first published online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1997.01837.x

  3. 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

    Article first published online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1998.tb00309.x

  4. 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

    Article first published online : 11 APR 2006, DOI: 10.1111/j.1600-0625.1997.tb00149.x

  5. 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

    Article first published online : 5 OCT 2004, DOI: 10.1002/ajmg.c.30035

  6. 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

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

  7. 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

  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

    Article first published online : 18 MAR 2010, DOI: 10.1002/bdrc.20172

  9. 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

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1600-0625.2000.009004290.x

  10. 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

  11. 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

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

  12. 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

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970150710

  13. 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

  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

    Article first published online : 28 JUN 2008, DOI: 10.1046/j.1365-2133.1997.6541616.x

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    Hemidesmosomal variants of epidermolysis bullosa

    Experimental Dermatology

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

    Article first published online : 4 MAY 2007, DOI: 10.1111/j.1600-0625.1998.tb00304.x

  16. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

    British Journal of Dermatology

    T. Takeichi, L. Liu, K. Fong, L. Ozoemena, J.R. McMillan, A. Salam, P. Campbell, M. Akiyama, J.E. Mellerio, W.H.I. McLean, M.A. Simpson and J.A. McGrath

    Article first published online : 19 NOV 2014, DOI: 10.1111/bjd.13190

  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

    Article first published online : 4 JAN 2002, DOI: 10.1046/j.1365-2133.1998.02182.x

  18. 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

    Article first published online : 1 JUN 2005, DOI: 10.1002/humu.1380060115

  19. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

    British Journal of Dermatology

    Volume 165, Issue 6, December 2011, Pages: 1314–1322, W.Y. Yuen, H.H. Lemmink, K.K. van Dijk-Bos, R.J. Sinke and M.F. Jonkman

    Article first published online : 17 NOV 2011, DOI: 10.1111/j.1365-2133.2011.10553.x

  20. Skin Gene and Cell Therapy

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

    Matthias Titeux, Alain Hovnanian, Pages: 140.1–140.22, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch140