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A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB. Pen AE, et al. Among authors: jensen ub. Eur J Med Genet. 2015 Apr;58(4):222-9. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25. Eur J Med Genet. 2015. PMID: 25724586
Difficulties in diagnosing Marfan syndrome using current FBN1 databases.
Groth KA, Gaustadnes M, Thorsen K, Østergaard JR, Jensen UB, Gravholt CH, Andersen NH. Groth KA, et al. Among authors: jensen ub. Genet Med. 2016 Jan;18(1):98-102. doi: 10.1038/gim.2015.32. Epub 2015 Mar 26. Genet Med. 2016. PMID: 25812041 Free article. Review.
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Among authors: jensen ub. Mol Genet Metab. 2018 Dec;125(4):361. doi: 10.1016/j.ymgme.2017.11.007. Epub 2018 Jan 8. Mol Genet Metab. 2018. PMID: 29325814 No abstract available.
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
Andresen BS, Bross P, Jensen TG, Winter V, Knudsen I, Kølvraa S, Jensen UB, Bolund L, Duran M, Kim JJ, et al. Andresen BS, et al. Among authors: jensen tg, jensen ub. Am J Hum Genet. 1993 Sep;53(3):730-9. Am J Hum Genet. 1993. PMID: 8102510 Free PMC article.
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Among authors: jensen hk, jensen ub. Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4. Circ Cardiovasc Genet. 2014. PMID: 24704780
156 results