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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojević V, Clementson Kockum C, Lundin J, Lindstrand A, Nordenskjöld A. Baranowska Körberg I, et al. Among authors: markljung e. Hum Mol Genet. 2015 Sep 15;24(18):5069-78. doi: 10.1093/hmg/ddv225. Epub 2015 Jun 23. Hum Mol Genet. 2015. PMID: 26105184
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, Hofmeister W, Cao J, Nilsson D, Holmdahl G, Barker G, Anderberg M, Vukojević V, Lindstrand A, Nordenskjöld A. Lundin J, et al. Among authors: markljung e. Mol Genet Genomic Med. 2019 Jun;7(6):e666. doi: 10.1002/mgg3.666. Epub 2019 May 1. Mol Genet Genomic Med. 2019. PMID: 31044557 Free PMC article.
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.
Söderhäll C, Körberg IB, Thai HT, Cao J, Chen Y, Zhang X, Shulu Z, van der Zanden LF, van Rooij IA, Frisén L, Roeleveld N, Markljung E, Kockum I, Nordenskjöld A. Söderhäll C, et al. Among authors: markljung e. Eur J Hum Genet. 2015 Apr;23(4):516-22. doi: 10.1038/ejhg.2014.129. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986825 Free PMC article.
Mutational study of the MAMLD1-gene in hypospadias.
Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A. Chen Y, et al. Among authors: markljung e. Eur J Med Genet. 2010 May-Jun;53(3):122-6. doi: 10.1016/j.ejmg.2010.03.005. Epub 2010 Mar 25. Eur J Med Genet. 2010. PMID: 20347055
Common variants in DGKK are strongly associated with risk of hypospadias.
van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X, Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV. van der Zanden LF, et al. Among authors: markljung e. Nat Genet. 2011 Jan;43(1):48-50. doi: 10.1038/ng.721. Epub 2010 Nov 28. Nat Genet. 2011. PMID: 21113153
16 results