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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. Cho RJ, et al. Among authors: jonkman mf. Sci Transl Med. 2018 Aug 22;10(455):eaas9668. doi: 10.1126/scitranslmed.aas9668. Sci Transl Med. 2018. PMID: 30135250
Lethal acantholytic epidermolysis bullosa.
McGrath JA, Bolling MC, Jonkman MF. McGrath JA, et al. Among authors: jonkman mf. Dermatol Clin. 2010 Jan;28(1):131-5. doi: 10.1016/j.det.2009.10.015. Dermatol Clin. 2010. PMID: 19945626 Review.
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Among authors: jonkman mf. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Fine JD, et al. Among authors: jonkman mf. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29. J Am Acad Dermatol. 2014. PMID: 24690439 Review.
Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines.
Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R, Goldberg D, Halmos GB, Harries M, Jonkman MF, Lucky A, Martinez AE, Maubec E, Morris S, Murrell DF, Palisson F, Pillay EI, Robson A, Salas-Alanis JC, McGrath JA. Mellerio JE, et al. Among authors: jonkman mf. Br J Dermatol. 2016 Jan;174(1):56-67. doi: 10.1111/bjd.14104. Epub 2015 Nov 7. Br J Dermatol. 2016. PMID: 26302137 Review.
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. Fine JD, et al. Among authors: jonkman mf. J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18. J Am Acad Dermatol. 2008. PMID: 18374450
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, Del Rio M, Bruckner-Tuderman L, Pasmooij AMG. Kiritsi D, et al. Among authors: jonkman mf. J Invest Dermatol. 2014 Aug;134(8):2097-2104. doi: 10.1038/jid.2014.118. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577406 Free article.
322 results