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Year | Number of Results |
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2000 | 1 |
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2017 | 1 |
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Page 1
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.
Eur J Cell Biol. 2005 Sep;84(9):765-81. doi: 10.1016/j.ejcb.2005.04.004.
Eur J Cell Biol. 2005.
PMID: 16218190
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML.
Felice KJ, et al.
Neurology. 2000 Jul 25;55(2):275-80. doi: 10.1212/wnl.55.2.275.
Neurology. 2000.
PMID: 10908904
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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
Scharner J, et al.
Hum Mutat. 2011 Feb;32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25.
Hum Mutat. 2011.
PMID: 20848652
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.
Pugh TJ, et al.
Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.
Genet Med. 2014.
PMID: 24503780
Free article.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.
Walsh R, et al.
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
Genet Med. 2017.
PMID: 27532257
Free PMC article.
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