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Items: 1 to 20 of 138

1.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.

PMID:
19810119
2.

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL, Goodship JA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Review.

PMID:
19876929
3.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J.

Nat Genet. 2000 Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10700184
4.

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.

Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7.

PMID:
23220543
5.

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

Shen W, Han D, Zhang J, Zhao H, Feng H.

Am J Med Genet A. 2011 Sep;155A(9):2131-6. doi: 10.1002/ajmg.a.34125. Epub 2011 Aug 3.

PMID:
21815252
6.

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z.

Hum Genet. 2006 Mar;119(1-2):199-205. Epub 2006 Jan 11.

PMID:
16404586
7.

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.

Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.

Congenit Anom (Kyoto). 2016 Sep;56(5):209-16. doi: 10.1111/cga.12155.

PMID:
26748586
8.

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.

Hum Genet. 2007 Jan;120(5):663-70. Epub 2006 Sep 21.

PMID:
17024374
9.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.

Am J Hum Genet. 2003 Mar;72(3):728-32. Epub 2003 Feb 4.

10.

Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.

Shi L, Luo C, Ahmed MK, Attaie AB, Ye X.

Mol Genet Genomics. 2016 Apr;291(2):863-72. doi: 10.1007/s00438-015-1151-2. Epub 2015 Nov 30.

PMID:
26621368
11.

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.

Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI.

Mol Genet Metab. 2002 Dec;77(4):291-5.

PMID:
12468274
12.

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.

Zhang Z, Bao K, He JW, Fu WZ, Zhang CQ, Zhang ZL.

Gene. 2012 Dec 15;511(2):380-2. doi: 10.1016/j.gene.2012.09.071. Epub 2012 Sep 29.

PMID:
23026208
13.

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778.

PMID:
18454448
14.

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L.

BMC Med Genet. 2010 Feb 25;11:33. doi: 10.1186/1471-2350-11-33.

15.

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Aziz A, Raza SI, Ali S, Ahmad W.

Clin Dysmorphol. 2016 Jan;25(1):1-6. doi: 10.1097/MCD.0000000000000104.

PMID:
26580685
16.

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].

van Hagen JM, Baart JA, Gille JJ.

Ned Tijdschr Geneeskd. 2005 Apr 23;149(17):929-31. Review. Dutch.

PMID:
15884406
17.

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W.

Pediatr Int. 2010 Apr;52(2):240-6. doi: 10.1111/j.1442-200X.2009.02953.x. Epub 2009 Sep 7.

PMID:
19744229
18.

Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.

Yang C, Chen W, Chen Y, Jiang J.

Cell Res. 2012 Nov;22(11):1593-604. doi: 10.1038/cr.2012.134. Epub 2012 Sep 18.

19.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL.

Hum Mol Genet. 2015 Jul 15;24(14):4126-37. doi: 10.1093/hmg/ddv152. Epub 2015 Apr 23.

20.

EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

Pusapati GV, Hughes CE, Dorn KV, Zhang D, Sugianto P, Aravind L, Rohatgi R.

Dev Cell. 2014 Mar 10;28(5):483-96. doi: 10.1016/j.devcel.2014.01.021. Epub 2014 Feb 27.

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