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Page 1
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Among authors: hennekam rc. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C, Carrero D, Gabau E, Velasco G, Quesada V, Bárcena C, Moens M, Fieggen K, Möhrcken S, Owens M, Puente DA, Asensio Ó, Loeys B, Pérez A, Benoit V, Wuyts W, Lévy N, Hennekam RC, De Sandre-Giovannoli A, López-Otín C. Soria-Valles C, et al. Among authors: hennekam rc. J Med Genet. 2016 Nov;53(11):776-785. doi: 10.1136/jmedgenet-2015-103695. Epub 2016 Jun 22. J Med Genet. 2016. PMID: 27334370
[Dyggve-Melchior-Clausen syndrome].
Beemer FA, Hennekam RC. Beemer FA, et al. Among authors: hennekam rc. Tijdschr Kindergeneeskd. 1984 Jun;52(3):103-7. Tijdschr Kindergeneeskd. 1984. PMID: 6506057 Dutch.
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: hennekam rc. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.
Oculocerebrocutaneous syndrome.
Bleeker-Wagemakers LM, Hamel BC, Hennekam RC, Beemer FA, Oorthuys HW. Bleeker-Wagemakers LM, et al. Among authors: hennekam rc. J Med Genet. 1990 Jan;27(1):69-70. doi: 10.1136/jmg.27.1.69. J Med Genet. 1990. PMID: 2407849 Free PMC article. Review. No abstract available.
588 results