Ruiz-Perez VL - Search Results

1

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

2

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, Caparros-Martin JA, Martin-Bravo C, Martin-Hurtado A, Sánchez-Bellver L, Marfany G, Ruiz-Perez VL, Garcia-Gonzalo FR. Barbeito P, et al. Among authors: ruiz perez vl. Front Cell Dev Biol. 2023 Jul 27;11:1190258. doi: 10.3389/fcell.2023.1190258. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37576597 Free PMC article.

3

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: ruiz perez vl. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.

4

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

5

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.

6

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.

7

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.

Pan-Hammarström Q, Lähdesmäki A, Zhao Y, Du L, Zhao Z, Wen S, Ruiz-Perez VL, Dunn-Walters DK, Goodship JA, Hammarström L. Pan-Hammarström Q, et al. J Exp Med. 2006 Jan 23;203(1):99-110. doi: 10.1084/jem.20050595. Epub 2006 Jan 3. J Exp Med. 2006. PMID: 16390936 Free PMC article.

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. 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

9

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.

10

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

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