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106 results

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Page 1
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: mcgibbon d. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M. Lehmann AR, et al. Among authors: mcgibbon d. Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Orphanet J Rare Dis. 2011. PMID: 22044607 Free PMC article. Review.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR. Fassihi H, et al. Among authors: mcgibbon d. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16. Proc Natl Acad Sci U S A. 2016. PMID: 26884178 Free PMC article.
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Sethi M, Haque S, Fawcett H, Wing JF, Chandler N, Mohammed S, Frayling IM, Norris PG, McGibbon D, Young AR, Sarkany RPE, Lehmann AR, Fassihi H. Sethi M, et al. Among authors: mcgibbon d. J Invest Dermatol. 2016 Apr;136(4):869-872. doi: 10.1016/j.jid.2015.12.031. Epub 2015 Dec 29. J Invest Dermatol. 2016. PMID: 26743599 Free article. No abstract available.
Paediatric solar urticaria: a case series.
Fityan A, McGibbon D, Fassihi H, Sarkany RS. Fityan A, et al. Among authors: mcgibbon d. Br J Dermatol. 2018 Jun;178(6):1453-1454. doi: 10.1111/bjd.16325. Epub 2018 Apr 22. Br J Dermatol. 2018. PMID: 29315482 No abstract available.
Multiple nodules: cause for concern?
DeGiovanni CV, Robson A, McGibbon D, Cummins SJ, Hextall JM. DeGiovanni CV, et al. Among authors: mcgibbon d. Clin Exp Dermatol. 2010 Jun;35(4):e193-5. doi: 10.1111/j.1365-2230.2009.03724.x. Clin Exp Dermatol. 2010. PMID: 20518913 No abstract available.
106 results