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Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: jensen h. Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27957503 Free PMC article.
Absence of NR2E1 mutations in patients with aniridia.
Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM. Corso-Díaz X, et al. Among authors: jensen h. Mol Vis. 2012;18:2770-82. Epub 2012 Nov 22. Mol Vis. 2012. PMID: 23213277 Free PMC article.
[Genetic testing and counselling in inherited eye disease].
Brøndum-Nielsen K, Jensen H, Timshel S, Grønskov K, Larsen M. Brøndum-Nielsen K, et al. Among authors: jensen h. Ugeskr Laeger. 2013 Sep 2;175(36):2031-4. Ugeskr Laeger. 2013. PMID: 23992910 Review. Danish.
Prevalence of generalized retinal dystrophy in Denmark.
Bertelsen M, Jensen H, Bregnhøj JF, Rosenberg T. Bertelsen M, et al. Among authors: jensen h. Ophthalmic Epidemiol. 2014 Aug;21(4):217-23. doi: 10.3109/09286586.2014.929710. Epub 2014 Jun 25. Ophthalmic Epidemiol. 2014. PMID: 24963760
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: jensen h. Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804404 Free PMC article.
2,857 results