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Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Van Tuyll Van Serooskerke AM, Schneider-Yin X, Schimmel RJ, Bladergroen RS, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder EI. Van Tuyll Van Serooskerke AM, et al. Among authors: bladergroen rs. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):96-101. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656457
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: bladergroen rs. Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x. Br J Dermatol. 2012. PMID: 21910705
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: bladergroen rs. J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734717 Free article.
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
van Steensel MA, Verstraeten VL, Frank J, Kelleners-Smeets NW, Poblete-Gutiérrez P, Marcus-Soekarman D, Bladergroen RS, Steijlen PM, van Geel M. van Steensel MA, et al. Among authors: bladergroen rs. J Invest Dermatol. 2007 Mar;127(3):588-93. doi: 10.1038/sj.jid.5700592. Epub 2006 Nov 23. J Invest Dermatol. 2007. PMID: 17124507 Free article.
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J. Schneider-Yin X, et al. Among authors: bladergroen rs. J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28. J Hepatol. 2015. PMID: 25445397
23 results