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Page 1
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. Dreyer B, et al. Among authors: rosenberg t. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Am J Hum Genet. 2001. PMID: 11402400 Free PMC article.
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: rosenberg t. 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.
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: rosenberg t. 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.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Felden J, et al. Among authors: rosenberg t. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31058429
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: rosenberg t. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.131. Eur J Hum Genet. 2015. PMID: 26559128 Free PMC article. No abstract available.
476 results