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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 Clin Dysmorphol; 2016 Jan; 25(1):7-11. PubMed ID: 26379196 [TBL] [Abstract][Full Text] [Related]
5. 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 Hum Mol Genet; 2005 Jun; 14(11):1503-13. PubMed ID: 15843403 [TBL] [Abstract][Full Text] [Related]
6. 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 Hum Mol Genet; 2004 Oct; 13(20):2493-503. PubMed ID: 15317753 [TBL] [Abstract][Full Text] [Related]
7. 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 Br J Dermatol; 2008 Sep; 159(4):961-7. PubMed ID: 18671782 [TBL] [Abstract][Full Text] [Related]
8. Restrictive dermopathy in a Turkish newborn. Yesil G; Hatipoglu L; Esteves-Vieira V; Levy N; De Sandre-Giovannoli A; Tüysüz B Pediatr Dermatol; 2011; 28(4):408-11. PubMed ID: 21121943 [TBL] [Abstract][Full Text] [Related]
9. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Ben Yaou R; Navarro C; Quijano-Roy S; Bertrand AT; Massart C; De Sandre-Giovannoli A; Cadiñanos J; Mamchaoui K; Butler-Browne G; Estournet B; Richard P; Barois A; Lévy N; Bonne G Eur J Hum Genet; 2011 Jun; 19(6):647-54. PubMed ID: 21267004 [TBL] [Abstract][Full Text] [Related]
10. 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 J Invest Dermatol; 2005 Nov; 125(5):913-9. PubMed ID: 16297189 [TBL] [Abstract][Full Text] [Related]
11. A case of restrictive dermopathy with novel ZMPSTE24 gene mutation. Kim JY; Kim SH; Ji HY; Choi SJ; Oh SY; Ki CS; Roh CR; Kim JH Pediatr Dev Pathol; 2012; 15(5):393-6. PubMed ID: 22746836 [TBL] [Abstract][Full Text] [Related]
12. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Smigiel R; Jakubiak A; Esteves-Vieira V; Szela K; Halon A; Jurek T; Lévy N; De Sandre-Giovannoli A Am J Med Genet A; 2010 Feb; 152A(2):447-52. PubMed ID: 20101687 [TBL] [Abstract][Full Text] [Related]
13. Restrictive dermopathy: report of two siblings. Lu CS; Wu SC; Hou JW; Chu CP; Tseng LL; Lue HC Pediatr Neonatol; 2013 Jun; 54(3):198-201. PubMed ID: 23597553 [TBL] [Abstract][Full Text] [Related]
14. Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation. Diociaiuti A; D'Amico P; Pisaneschi E; Giancristoforo S; Pappalardo MG; Di Guardo V; Zambruno G; El Hachem M J Eur Acad Dermatol Venereol; 2019 Mar; 33(3):e139-e140. PubMed ID: 30461078 [No Abstract] [Full Text] [Related]
15. Spear ED; Hsu ET; Nie L; Carpenter EP; Hrycyna CA; Michaelis S Dis Model Mech; 2018 Jul; 11(7):. PubMed ID: 29794150 [TBL] [Abstract][Full Text] [Related]
16. Lethal Restrictive Dermopathy with Pradeep I; Gowrishankar K; Shanmugasundaram L Pediatr Dev Pathol; 2022; 25(3):327-329. PubMed ID: 34961372 [TBL] [Abstract][Full Text] [Related]
17. 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 Hum Mutat; 2006 Jun; 27(6):524-31. PubMed ID: 16671095 [TBL] [Abstract][Full Text] [Related]
18. [A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects]. Navarro CL; Poitelon Y; Lévy N Med Sci (Paris); 2008 Oct; 24(10):833-40. PubMed ID: 18950579 [TBL] [Abstract][Full Text] [Related]
19. Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. Cunningham VJ; D'Apice MR; Licata N; Novelli G; Cundy T Bone; 2010 Sep; 47(3):591-7. PubMed ID: 20550970 [TBL] [Abstract][Full Text] [Related]