TY - CHAP AU - Fine, J. D. AU - Bauer, E. A. AU - Gedde-Dahl, T. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - Inherited epidermolysis bullosa: definition and historical overview ID - Fine1999 ER - TY - BOOK PY - 2009 DA - 2009// TI - Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy. PB - Springer Verlag GmbH CY - Wien New York ID - ref2 ER - TY - JOUR AU - Fine, J. D. AU - Eady, R. A. J. AU - Bauer, J. A. PY - 2008 DA - 2008// TI - The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB JO - J Am Acad Dermatol VL - 58 UR - https://doi.org/10.1016/j.jaad.2008.02.004 DO - 10.1016/j.jaad.2008.02.004 ID - Fine2008 ER - TY - JOUR AU - Fine, J. D. AU - Bauer, E. A. AU - Briggaman, R. A. PY - 1991 DA - 1991// TI - Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry JO - J Amer Acad Dermatol VL - 24 UR - https://doi.org/10.1016/0190-9622(91)70021-S DO - 10.1016/0190-9622(91)70021-S ID - Fine1991 ER - TY - JOUR AU - Fine, J. D. AU - Eady, R. A. J. AU - Bauer, E. A. PY - 2000 DA - 2000// TI - Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa JO - J Am Acad Dermatol VL - 42 UR - https://doi.org/10.1067/mjd.2000.106369 DO - 10.1067/mjd.2000.106369 ID - Fine2000 ER - TY - JOUR AU - Alper, J. C. AU - Baden, H. P. AU - Goldsmith, L. A. PY - 1978 DA - 1978// TI - Kindler's syndrome JO - Arch Dermatol VL - 114 UR - https://doi.org/10.1001/archderm.1978.01640150085030 DO - 10.1001/archderm.1978.01640150085030 ID - Alper1978 ER - TY - JOUR AU - Shimizu, H. AU - Sato, M. AU - Ban, M. PY - 1997 DA - 1997// TI - Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa JO - Arch Dermatol VL - 133 UR - https://doi.org/10.1001/archderm.1997.03890450057007 DO - 10.1001/archderm.1997.03890450057007 ID - Shimizu1997 ER - TY - JOUR AU - Shabbir, G. AU - Hassan, M. AU - Kazmi, A. PY - 1986 DA - 1986// TI - Laryngo-onycho-cutaneous syndrome JO - Biomedica VL - 2 ID - Shabbir1986 ER - TY - JOUR AU - Phillips, R. J. AU - Atherton, D. J. AU - Gibbs, M. L. AU - Strobel, S. AU - Lake, B. D. PY - 1994 DA - 1994// TI - Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect JO - Arch Dis Child VL - 70 UR - https://doi.org/10.1136/adc.70.4.319 DO - 10.1136/adc.70.4.319 ID - Phillips1994 ER - TY - JOUR AU - McLean, W. H. AU - Irvine, A. D. AU - Hamill, K. J. PY - 2003 DA - 2003// TI - An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome JO - Hum Mol Genet VL - 12 UR - https://doi.org/10.1093/hmg/ddg234 DO - 10.1093/hmg/ddg234 ID - McLean2003 ER - TY - CHAP AU - Fine, J. D. AU - Johnson, L. B. AU - Suchindran, C. AU - Moshell, A. AU - Gedde-Dahl, T. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - The epidemiology of inherited EB: findings within AmericanCanadian and European study populations ID - Fine1999 ER - TY - CHAP AU - Fine, J. D. ED - Grob, J. J. ED - MacKie, R. ED - Stern, R. ED - Weinstock, M. PY - 1996 DA - 1996// BT - Epidemiology and the study of genetic diseases PB - Blackwell Science CY - Epidemiology and prevention of skin diseases London ID - Fine1996 ER - TY - JOUR AU - Fine, J. D. PY - 1996 DA - 1996// TI - Rare disease registries - lessons learned from the National Epidermolysis Bullosa Registry JO - J Rare Diseases VL - 2 ID - Fine1996 ER - TY - JOUR AU - Pfendner, E. AU - Uitto, J. AU - Fine, J. -. D. PY - 2001 DA - 2001// TI - Epidermolysis bullosa carrier frequencies in the US population JO - J Invest Dermatol VL - 116 UR - https://doi.org/10.1046/j.1523-1747.2001.01279-11.x DO - 10.1046/j.1523-1747.2001.01279-11.x ID - Pfendner2001 ER - TY - JOUR AU - Tadini, G. AU - Gualandri, L. AU - Colombi, M. PY - 2005 DA - 2005// TI - The Italian registry of hereditary epidermolysis bullosa JO - G Ital Dermatol Venereol VL - 140 ID - Tadini2005 ER - TY - CHAP AU - Inaba, Y. AU - Kitamura, K. AU - Ogawa, H. AU - Manabe, M. AU - Sasai, Y. PY - 1989 DA - 1989// BT - A study on the estimation of prevalence of epidermolysis bullosa in Japan ID - Inaba1989 ER - TY - JOUR AU - McKenna, K. E. AU - Walsh, M. Y. AU - Bingham, E. A. PY - 1992 DA - 1992// TI - Epidermolysis bullosa in Northern Ireland JO - Br J Dermatol VL - 127 UR - https://doi.org/10.1111/j.1365-2133.1992.tb00448.x DO - 10.1111/j.1365-2133.1992.tb00448.x ID - McKenna1992 ER - TY - JOUR AU - Pavicic, Z. AU - Kmet-Vizintin, P. AU - Kansky, A. AU - Dobric, I. PY - 1990 DA - 1990// TI - Occurrence of hereditary bullous epidermolyses in Croatia JO - Pediatr Dermatol VL - 7 UR - https://doi.org/10.1111/j.1525-1470.1990.tb00664.x DO - 10.1111/j.1525-1470.1990.tb00664.x ID - Pavicic1990 ER - TY - JOUR AU - Horn, H. I. M. AU - Priestley, G. C. AU - Eady, R. A. J. AU - Tidman, M. J. PY - 1997 DA - 1997// TI - The prevalence of epidermolysis bullosa in Scotland JO - Br J Dermatol VL - 136 UR - https://doi.org/10.1111/j.1365-2133.1997.tb02141.x DO - 10.1111/j.1365-2133.1997.tb02141.x ID - Horn1997 ER - TY - CHAP AU - Fine, J. D. AU - Johnson, L. B. AU - Suchindran, C. AU - Carter, D. M. AU - Moshell, A. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - The National Epidermolysis Bullosa Registry: organization, goals, methodologic approaches, basic demography, and accomplishments ID - Fine1999 ER - TY - CHAP AU - Fine, J. D. AU - Johnson, L. B. AU - Suchindran, C. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - Cutaneous and skin-associated musculoskeletal manifestations of inherited EB: the National Epidermolysis Bullosa Registry experience ID - Fine1999 ER - TY - CHAP AU - Fine, J. D. AU - Smith, L. T. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - Non-molecular diagnostic testing of inherited epidermolysis bullosa: current techniques, major findings, and relative sensitivity and specificity ID - Fine1999 ER - TY - CHAP AU - Fine, J. D. AU - Johnson, L. B. AU - Suchindran, C. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - Extracutaneous features of inherited EB: the National Epidermolysis Bullosa Registry experience ID - Fine1999 ER - TY - JOUR AU - Fine, J. D. AU - Mellerio, J. PY - 2009 DA - 2009// TI - Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part I. Epithelial associated tissues JO - J Am Acad Dermatol VL - 61 UR - https://doi.org/10.1016/j.jaad.2009.03.052 DO - 10.1016/j.jaad.2009.03.052 ID - Fine2009 ER - TY - JOUR AU - Fine, J. D. AU - Mellerio, J. PY - 2009 DA - 2009// TI - Extracutaneous manifestations and complications of inherited epidermolysis bullosa: Part II. Other organs JO - J Am Acad Dermatol VL - 61 UR - https://doi.org/10.1016/j.jaad.2009.03.053 DO - 10.1016/j.jaad.2009.03.053 ID - Fine2009 ER - TY - JOUR AU - Wright, J. T. AU - Johnson, L. B. AU - Fine, J. -. D. PY - 1993 DA - 1993// TI - Developmental defects of enamel in humans with hereditary epidermolysis bullosa JO - Arch Oral Biol VL - 38 UR - https://doi.org/10.1016/0003-9969(93)90107-W DO - 10.1016/0003-9969(93)90107-W ID - Wright1993 ER - TY - JOUR AU - Wright, J. T. AU - Fine, J. D. AU - Johnson, L. B. PY - 1991 DA - 1991// TI - Oral soft tissues in hereditary epidermolysis bullosa JO - Oral Surg Oral Med Oral Pathol VL - 71 UR - https://doi.org/10.1016/0030-4220(91)90426-D DO - 10.1016/0030-4220(91)90426-D ID - Wright1991 ER - TY - CHAP AU - Wright, J. T. ED - Fine, J. D. ED - Bauer, E. A. ED - McGuire, J. ED - Moshell, A. PY - 1999 DA - 1999// BT - Oral manifestations of epidermolysis bullosa ID - Wright1999 ER - TY - JOUR AU - Dowling, G. B. AU - Meara, R. H. PY - 1954 DA - 1954// TI - Epidermolysis bullosa resembling juvenile dermatitis herpetiformis JO - Br J Dermatol VL - 66 UR - https://doi.org/10.1111/j.1365-2133.1954.tb12605.x DO - 10.1111/j.1365-2133.1954.tb12605.x ID - Dowling1954 ER - TY - JOUR AU - Fine, J. D. AU - Johnson, L. B. AU - Weiner, M. AU - Suchindran, C. PY - 2007 DA - 2007// TI - Tracheolaryngeal complications of inherited epidermolysis bullosa JO - Laryngoscope VL - 117 UR - https://doi.org/10.1097/MLG.0b013e318093ed8e DO - 10.1097/MLG.0b013e318093ed8e ID - Fine2007 ER - TY - JOUR AU - Shemanko, C. S. AU - Horn, H. M. AU - Keohane, S. G. PY - 2000 DA - 2000// TI - Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential JO - Br J Dermatol VL - 142 UR - https://doi.org/10.1046/j.1365-2133.2000.03304.x DO - 10.1046/j.1365-2133.2000.03304.x ID - Shemanko2000 ER - TY - JOUR AU - Fine, J. D. AU - Johnson, L. B. AU - Weiner, M. AU - Li, K. 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PY - 1996 DA - 1996// TI - Loss of plectin (HD-1) causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization JO - Genes Develop VL - 10 UR - https://doi.org/10.1101/gad.10.14.1724 DO - 10.1101/gad.10.14.1724 ID - McLean1996 ER - TY - JOUR AU - Salih, M. A. M. AU - Lake, B. D. AU - El Hag, M. A. AU - Atherton, D. J. PY - 1985 DA - 1985// TI - Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa JO - Br J Dermatol VL - 113 UR - https://doi.org/10.1111/j.1365-2133.1985.tb02055.x DO - 10.1111/j.1365-2133.1985.tb02055.x ID - Salih1985 ER - TY - JOUR AU - Gu, L. H. AU - Kim, S. C. AU - Ichiki, Y. PY - 2003 DA - 2003// TI - A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema JO - J Invest Dermatol VL - 121 UR - https://doi.org/10.1046/j.1523-1747.2003.12424.x DO - 10.1046/j.1523-1747.2003.12424.x ID - Gu2003 ER - TY - JOUR AU - Koss-Harnes, D. AU - Hoyheim, B. AU - Anton-Lamprecht, I. PY - 2002 DA - 2002// TI - A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations JO - J Invest Dermatol VL - 118 UR - https://doi.org/10.1046/j.0022-202x.2001.01591.x DO - 10.1046/j.0022-202x.2001.01591.x ID - Koss-Harnes2002 ER - TY - JOUR AU - Olaisen, B. AU - Gedde-Dahl, T. PY - 1973 DA - 1973// TI - GPT-epidermolysis bullosa simplex (EBS Ogna) linkage in man JO - Hum Hered VL - 23 UR - https://doi.org/10.1159/000152573 DO - 10.1159/000152573 ID - Olaisen1973 ER - TY - JOUR AU - Wright, J. T. AU - Fine, J. D. AU - Johnson, L. B. 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PY - 2004 DA - 2004// TI - Eye involvement in inherited epidermolysis bullosa (EB): experience of the National EB Registry JO - Am J Ophthalmol VL - 138 UR - https://doi.org/10.1016/j.ajo.2004.03.034 DO - 10.1016/j.ajo.2004.03.034 ID - Fine2004 ER - TY - JOUR AU - Fine, J. D. AU - Johnson, L. B. AU - Weiner, M. PY - 2004 DA - 2004// TI - Genitourinary complications of inherited epidermolysis bullosa (EB): experience of the National EB Registry and review of the literature JO - J Urol VL - 172 UR - https://doi.org/10.1097/01.ju.0000143200.86683.2c DO - 10.1097/01.ju.0000143200.86683.2c ID - Fine2004 ER - TY - JOUR AU - Fine, J. D. AU - Johnson, L. B. AU - Weiner, M. AU - Suchindran, C. PY - 2008 DA - 2008// TI - Cause-specific risks of childhood death in inherited epidermolysis bullosa JO - J Pediatr VL - 152 UR - https://doi.org/10.1016/j.jpeds.2007.06.039 DO - 10.1016/j.jpeds.2007.06.039 ID - Fine2008 ER - TY - JOUR AU - Hintner, H. AU - Wolff, K. PY - 1982 DA - 1982// TI - Generalized atrophic benign epidermolysis bullosa JO - Arch Dermatol VL - 118 UR - https://doi.org/10.1001/archderm.1982.01650180009008 DO - 10.1001/archderm.1982.01650180009008 ID - Hintner1982 ER - TY - JOUR AU - Varari, M. D. AU - Phillips, R. J. AU - Lake, B. D. AU - Harper, J. I. PY - 1995 DA - 1995// TI - Junctional epidermolysis bullosa and pyloric atresia: a distinct entity JO - Br J Dermatol VL - 133 ID - Varari1995 ER - TY - JOUR AU - Pasini, A. PY - 1928 DA - 1928// TI - Dystrophie cutanee buleuse atrophiante et albo-papuloide JO - Ann Dermatol Syphilgr (Paris) VL - 9 ID - Pasini1928 ER - TY - JOUR AU - Touraine, M. A. PY - 1942 DA - 1942// TI - Classification des epidermolyses bulleuses JO - Ann Dermatol Syphiligr (Paris) VL - 8 ID - Touraine1942 ER - TY - JOUR AU - Furue, M. AU - Ando, I. AU - Inoue, Y. PY - 1986 DA - 1986// TI - Pretibial epidermolysis bullosa. 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PY - 2005 DA - 2005// TI - Pseudosyndactyly and musculoskeletal deformities in inherited epidermolysis bullosa (EB): experience of the National EB Registry, 1986-2002 JO - J Hand Surg (British and European Volume) VL - 30B UR - https://doi.org/10.1016/j.jhsb.2004.07.006 DO - 10.1016/j.jhsb.2004.07.006 ID - Fine2005 ER - TY - JOUR AU - Fine, J. D. AU - Johnson, L. B. AU - Weiner, M. PY - 2004 DA - 2004// TI - Inherited epidermolysis bullosa (EB) and the risk of death from renal disease: experience of the National EB Registry JO - Am J Kidney Dis VL - 44 UR - https://doi.org/10.1016/S0272-6386(04)00935-7 DO - 10.1016/S0272-6386(04)00935-7 ID - Fine2004 ER - TY - JOUR AU - Fine, J. D. AU - Hall, M. AU - Weiner, M. AU - Li, K. P. AU - Suchindran, C. PY - 2008 DA - 2008// TI - The risk of cardiomyopathy in inherited epidermolysis bullosa JO - Br J Dermatol VL - 159 ID - Fine2008 ER - TY - JOUR AU - Fine, J. D. AU - Osment, L. S. AU - Gay, S. 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PY - 2002 DA - 2002// TI - EB simplex superficialis resulting from a mutation in the type VII collagen gene JO - J Invest Dermatol VL - 118 UR - https://doi.org/10.1046/j.0022-202x.2001.01702.x DO - 10.1046/j.0022-202x.2001.01702.x ID - Martinez-Mir2002 ER - TY - JOUR AU - Vidal, F. AU - Aberdam, D. AU - Christiano, A. M. PY - 1995 DA - 1995// TI - Mutations in the gene for the integrin b4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia JO - J Invest Dermatol VL - 104 ID - Vidal1995 ER - TY - JOUR AU - Pulkkinen, L. AU - Kurtz, K. AU - Xu, Y. PY - 1997 DA - 1997// TI - Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-size mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia JO - Lab Invest VL - 76 ID - Pulkkinen1997 ER - TY - JOUR AU - Ashton, G. H. AU - Sorelli, P. AU - Mellerio, J. PY - 2001 DA - 2001// TI - Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia JO - Br J Dermatol VL - 144 UR - https://doi.org/10.1046/j.1365-2133.2001.04038.x DO - 10.1046/j.1365-2133.2001.04038.x ID - Ashton2001 ER - TY - JOUR AU - Varki, R. AU - Sadowski, S. AU - Uitto, J. AU - Pfendner, E. PY - 2007 DA - 2007// TI - Epidermolysis bullosa. II. Type VII collagen mutations and phenotype/genotype correlations in the dystrophic subtypes JO - J Med Genet VL - 44 UR - https://doi.org/10.1136/jmg.2006.045302 DO - 10.1136/jmg.2006.045302 ID - Varki2007 ER - TY - JOUR AU - Siegel, D. H. AU - Ashton, G. H. S. AU - Penagos, H. G. PY - 2003 DA - 2003// TI - Loss of kindlin-1, a human homolog of the C. elegans actin-extracellular matrix linker protein UNC-112, causes Kindler syndrome JO - Am J Hum Genet VL - 73 UR - https://doi.org/10.1086/376609 DO - 10.1086/376609 ID - Siegel2003 ER - TY - JOUR AU - Schofield, O. M. V. AU - Fine, J. D. 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