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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Broughton BC, et al. Among authors: berneburg m. Hum Mol Genet. 2001 Oct 15;10(22):2539-47. doi: 10.1093/hmg/10.22.2539. Hum Mol Genet. 2001. PMID: 11709541
Psychological correlates of adherence to photoprotection in a rare disease: International survey of people with Xeroderma Pigmentosum.
Walburn J, Canfield M, Norton S, Sainsbury K, Araújo-Soares V, Foster L, Berneburg M, Sarasin A, Morrison-Bowen N, Sniehotta FF, Sarkany R, Weinman J. Walburn J, et al. Among authors: berneburg m. Br J Health Psychol. 2019 Sep;24(3):668-686. doi: 10.1111/bjhp.12375. Epub 2019 Jun 10. Br J Health Psychol. 2019. PMID: 31183946 Free PMC article.
[Xeroderma pigmentosum and related syndromes].
Berneburg M, Krutmann J. Berneburg M, et al. Hautarzt. 2003 Jan;54(1):33-40. doi: 10.1007/s00105-002-0464-3. Epub 2002 Dec 20. Hautarzt. 2003. PMID: 12567255 German.
[Ocular manifestations in xeroderma pigmentosum].
Süsskind D, Berneburg M, Rohrbach JM. Süsskind D, et al. Among authors: berneburg m. Klin Monbl Augenheilkd. 2011 Mar;228(3):239-44. doi: 10.1055/s-0029-1245274. Epub 2010 Aug 26. Klin Monbl Augenheilkd. 2011. PMID: 20799158 German.
Diagnosing xeroderma pigmentosum group C by immunohistochemistry.
de Feraudy S, Boubakour-Azzouz I, Fraitag S, Berneburg M, Chan L, Chew K, Clericuzio CL, Cunningham B, Tope WD, Cleaver JE. de Feraudy S, et al. Among authors: berneburg m. Am J Dermatopathol. 2010 Apr;32(2):109-17. doi: 10.1097/DAD.0b013e3181af0a5e. Am J Dermatopathol. 2010. PMID: 19915453
240 results