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Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Rankin J, et al. Among authors: wehnert m. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. Am J Med Genet A. 2008. PMID: 18478590
The LINC complex and human disease.
Meinke P, Nguyen TD, Wehnert MS. Meinke P, et al. Biochem Soc Trans. 2011 Dec;39(6):1693-7. doi: 10.1042/BST20110658. Biochem Soc Trans. 2011. PMID: 22103509 Review.
Restrictive dermopathy: a rare laminopathy.
Thill M, Nguyen TD, Wehnert M, Fischer D, Hausser I, Braun S, Jackisch C. Thill M, et al. Among authors: wehnert m. Arch Gynecol Obstet. 2008 Sep;278(3):201-8. doi: 10.1007/s00404-008-0676-6. Epub 2008 May 10. Arch Gynecol Obstet. 2008. PMID: 18470519
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM. Zhang Q, et al. Among authors: wehnert m. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. doi: 10.1093/hmg/ddm238. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17761684
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. Navarro CL, et al. Among authors: wehnert m. Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169522 Free PMC article.
119 results