Ruiz-Perez VL - Search Results

1

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

Kague E, Turci F, Newman E, Yang Y, Brown KR, Aglan MS, Otaify GA, Temtamy SA, Ruiz-Perez VL, Cross S, Royall CP, Witten PE, Hammond CL. Kague E, et al. Among authors: ruiz perez vl. Bone Res. 2021 Aug 31;9(1):39. doi: 10.1038/s41413-021-00156-y. Bone Res. 2021. PMID: 34465741 Free PMC article.

2

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.

3

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

4

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

5

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.

6

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL. Martínez-Glez V, et al. Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30. Hum Mutat. 2012. PMID: 22052668 Free PMC article.

7

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593

8

Mutations in WNT1 cause different forms of bone fragility.

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B. Keupp K, et al. Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14. Am J Hum Genet. 2013. PMID: 23499309 Free PMC article.

9

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M. Caparrós-Martin JA, et al. Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613367

10

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Valencia M, Caparrós-Martin JA, Sirerol-Piquer MS, García-Verdugo JM, Martínez-Glez V, Lapunzina P, Temtamy S, Aglan M, Lund AM, Nikkels PG, Ruiz-Perez VL, Ostergaard E. Valencia M, et al. Am J Med Genet A. 2014 May;164A(5):1143-50. doi: 10.1002/ajmg.a.36427. Epub 2014 Mar 19. Am J Med Genet A. 2014. PMID: 24648371

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