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Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.
Brown SJ, Asai Y, Cordell HJ, Campbell LE, Zhao Y, Liao H, Northstone K, Henderson J, Alizadehfar R, Ben-Shoshan M, Morgan K, Roberts G, Masthoff LJ, Pasmans SG, van den Akker PC, Wijmenga C, Hourihane JO, Palmer CN, Lack G, Clarke A, Hull PR, Irvine AD, McLean WH. Brown SJ, et al. Among authors: van den akker pc. J Allergy Clin Immunol. 2011 Mar;127(3):661-7. doi: 10.1016/j.jaci.2011.01.031. J Allergy Clin Immunol. 2011. PMID: 21377035 Free PMC article.
Diagnostic next generation sequencing in neonatal erythroderma.
Cuperus E, Sigurdsson V, van den Akker PC, Bolling MC, van Gijn ME, Pasmans SGMA. Cuperus E, et al. Among authors: van gijn me, van den akker pc. J Dtsch Dermatol Ges. 2021 Apr;19(4):612-614. doi: 10.1111/ddg.14298. Epub 2020 Oct 26. J Dtsch Dermatol Ges. 2021. PMID: 33103336 No abstract available.
Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie.
Cuperus E, Sigurdsson V, van den Akker PC, Bolling MC, van Gijn ME, Pasmans SGMA. Cuperus E, et al. Among authors: van gijn me, van den akker pc. J Dtsch Dermatol Ges. 2021 Apr;19(4):611-614. doi: 10.1111/ddg.14298_g. J Dtsch Dermatol Ges. 2021. PMID: 33861020 German. No abstract available.
Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.
Cuperus E, Bolling MC, de Graaf M, van den Akker PC, van Gijn ME, Simon MEH, Sigurdsson V, Pasmans SGMA. Cuperus E, et al. Among authors: van gijn me, van den akker pc. J Am Acad Dermatol. 2021 Apr;84(4):1111-1113. doi: 10.1016/j.jaad.2020.06.021. Epub 2020 Jun 12. J Am Acad Dermatol. 2021. PMID: 32534952 No abstract available.
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA, Rodríguez-Girondo MD, Wagner A, van der Stoep N, van den Akker PC, Oosterwijk JC, van Os TA, van der Kolk LE, Vasen HFA, Hes FJ, Cahen DL, Bruno MJ, Potjer TP. Overbeek KA, et al. Among authors: van den akker pc, van os ta, van der stoep n, van der kolk le. J Med Genet. 2021 Apr;58(4):264-269. doi: 10.1136/jmedgenet-2019-106562. Epub 2020 Jun 1. J Med Genet. 2021. PMID: 32482799 Free PMC article.
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC. Yenamandra VK, et al. Among authors: van den berg mp, van der meer p, van den akker pc. Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. Br J Dermatol. 2018. PMID: 29779254 No abstract available.
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.
Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I, Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker PC, Wertheim-Tysarowska K, Zambruno G. Has C, et al. Among authors: van den akker pc. Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9. Br J Dermatol. 2020. PMID: 31090061 Free PMC article.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Among authors: van der velde kj, van den akker pc. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
62 results