Ruiz-Perez VL - Search Results

1

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. Temtamy SA, et al. Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778. Hum Mutat. 2008. PMID: 18454448

2

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. Ruiz-Perez VL, et al. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

3

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA. Tompson SW, et al. J Med Genet. 2001 Jun;38(6):E18. doi: 10.1136/jmg.38.6.e18. J Med Genet. 2001. PMID: 11389165 Free PMC article. No abstract available.

4

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. Ruiz-Perez VL, et al. Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571802 Free PMC article.

5

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. O'Driscoll M, et al. Nat Genet. 2003 Apr;33(4):497-501. doi: 10.1038/ng1129. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640452

6

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. Tompson SW, et al. Hum Genet. 2007 Jan;120(5):663-70. doi: 10.1007/s00439-006-0237-7. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024374

7

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA. Ruiz-Perez VL, et al. Development. 2007 Aug;134(16):2903-12. doi: 10.1242/dev.007542. Development. 2007. PMID: 17660199 Free article.

8

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. Valencia M, et al. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117. Hum Mutat. 2009. PMID: 19810119

9

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

Ruiz-Perez VL, Goodship JA. Ruiz-Perez VL, et al. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Am J Med Genet C Semin Med Genet. 2009. PMID: 19876929 Review.

10

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL. Lapunzina P, et al. Am J Hum Genet. 2010 Jul 9;87(1):110-4. doi: 10.1016/j.ajhg.2010.05.016. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579626 Free PMC article.

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