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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: van essen aj. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Deelen P, van Dam S, Herkert JC, Karjalainen JM, Brugge H, Abbott KM, van Diemen CC, van der Zwaag PA, Gerkes EH, Zonneveld-Huijssoon E, Boer-Bergsma JJ, Folkertsma P, Gillett T, van der Velde KJ, Kanninga R, van den Akker PC, Jan SZ, Hoorntje ET, Te Rijdt WP, Vos YJ, Jongbloed JDH, van Ravenswaaij-Arts CMA, Sinke R, Sikkema-Raddatz B, Kerstjens-Frederikse WS, Swertz MA, Franke L. Deelen P, et al. Among authors: van dam s, van der velde kj, van ravenswaaij arts cma, van diemen cc, van den akker pc, van der zwaag pa. Nat Commun. 2019 Jun 28;10(1):2837. doi: 10.1038/s41467-019-10649-4. Nat Commun. 2019. PMID: 31253775 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.
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. Navarro CL, et al. Among authors: van den akker pc. Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169522 Free PMC article.
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout AT, et al. Among authors: van ravenswaaij arts cm, van den akker pc. Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401716 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.
58 results