Similar articles for PMID: 15317753

Year	Number of Results
1967	1
1985	1
1990	1
1992	2
1993	3
1997	1
1998	2
2001	2
2002	4
2003	3
2004	5
2005	22
2006	14
2007	4
2008	9
2009	10
2010	14
2011	7
2012	5
2013	7
2014	5
2015	6
2016	13
2017	5
2018	15
2019	8
2020	13
2021	7
2022	9
2023	1
2024	0

1

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

2

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. 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

3

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, Miner JH. Moulson CL, et al. J Invest Dermatol. 2005 Nov;125(5):913-9. doi: 10.1111/j.0022-202X.2005.23846.x. J Invest Dermatol. 2005. PMID: 16297189 Free PMC article.

4

Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.

Matulevičienė A, Meškienė R, Morkūnienė A, Ambrozaitytė L, Meškauskas R, Garunkštienė R, Drazdienė N, Utkus A, Kučinskas V. Matulevičienė A, et al. Clin Dysmorphol. 2016 Jan;25(1):7-11. doi: 10.1097/MCD.0000000000000100. Clin Dysmorphol. 2016. PMID: 26379196

5

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T. Denecke J, et al. Hum Mutat. 2006 Jun;27(6):524-31. doi: 10.1002/humu.20315. Hum Mutat. 2006. PMID: 16671095

6

Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy.

Levy N, López-Otín C, Hennekam RC. Levy N, et al. Arch Dermatol. 2005 Nov;141(11):1473-4; author reply 1474. doi: 10.1001/archderm.141.11.1473-b. Arch Dermatol. 2005. PMID: 16301408 No abstract available.

7

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Ahmad Z, Phadke SR, Arch E, Glass J, Agarwal AK, Garg A. Ahmad Z, et al. Clin Genet. 2012 Feb;81(2):158-64. doi: 10.1111/j.1399-0004.2010.01580.x. Epub 2010 Nov 25. Clin Genet. 2012. PMID: 21108632 Free PMC article.

8

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.

Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger TG, Verstraeten VL. Sander CS, et al. Br J Dermatol. 2008 Sep;159(4):961-7. doi: 10.1111/j.1365-2133.2008.08772.x. Epub 2008 Jul 30. Br J Dermatol. 2008. PMID: 18671782

9

Restrictive dermopathy: report of two siblings.

Lu CS, Wu SC, Hou JW, Chu CP, Tseng LL, Lue HC. Lu CS, et al. Pediatr Neonatol. 2013 Jun;54(3):198-201. doi: 10.1016/j.pedneo.2012.11.012. Epub 2013 Jan 10. Pediatr Neonatol. 2013. PMID: 23597553 Free article.

10

Restrictive dermopathy in a Turkish newborn.

Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B. Yesil G, et al. Pediatr Dermatol. 2011 Jul-Aug;28(4):408-11. doi: 10.1111/j.1525-1470.2010.01296.x. Epub 2010 Dec 2. Pediatr Dermatol. 2011. PMID: 21121943

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