Publicaciones
Trabajos Publicados   Víctor Luis Ruiz Pérez   

1.- Gordo, G, Tenorio, J, Arias, P, Santos-Simarro, F, García-Miñaur, S, Moreno, JC, Nevado, J, Vallespin, E, Rodriguez-Laguna, L, de Mena, R, Dapia, I, Palomares, M, Del Pozo, Á, Ibañez, K, Silla, JC, Barroso, E, Ruiz Pérez, VL , Martinez-Glez, V, Lapunzina, P. (2017). mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin. Genet. (PMID: 28892148) Abstract
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2.- Niceta, M, Margiotti, K, Digilio, MC, Guida, V, Bruselles, A, Pizzi, S, Ferraris, A, Memo, L, Laforgia, N, Dentici, ML, Consoli, F, Torrente, I, Ruiz-Perez, VL , Dallapiccola, B, Marino, B, De Luca, A, Tartaglia, M. (2017). Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clin. Genet. (PMID: 28857138) Abstract
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3.- Palencia-Campos, A , Ullah, A, Nevado, J, Yildirim, R, Unal, E, Ciorraga, M, Barruz, P, Chico, L, Piceci-Sparascio, F, Guida, V, De Luca, A, Kayserili, H, Ullah, I, Burmeister, M, Lapunzina, P, Ahmad, W, Morales, A, Ruiz-Perez, VL . (2017). GLI1 Inactivation is associated with Developmental Phenotypes Overlapping with Ellis-Van Creveld Syndrome. Hum. Mol. Genet. (PMID: 28973407) Abstract
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4.- Tenorio, J, Álvarez, I, Riancho-Zarrabeitia, L, Martos-Moreno, GÁ, Mandrile, G, de la Flor Crespo, M, Sukchev, M, Sherif, M, Kramer, I, Darnaude-Ortiz, MT, Arias, P, Gordo, G, Dapía, I, Martinez-Villanueva, J, Gómez, R, Iturzaeta, JM, Otaify, G, García-Unzueta, M, Rubinacci, A, Riancho, JA, Aglan, M, Temtamy, S, Hamid, MA, Argente, J, Ruiz-Pérez, VL , Heath, KE, Lapunzina, P. (2017). Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of hypophosphatasia. Am. J. Med. Genet. A. (PMID: 28127875) Abstract
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5.- Caparros-Martin, JA, Aglan, MS, Temtamy, S, Otaify, GA, Valencia, M , Nevado, J , Vallespin, E, Del Pozo, A, Prior de Castro, C, Calatrava-Ferreras, L, Gutierrez, P, Bueno, AM, Sagastizabal, B, Guillen-Navarro, E, Ballesta-Martinez, M, Gonzalez, V, Basaran, SY, Buyukoglan, R, Sarikepe, B, Espinoza-Valdez, C, Cammarata-Scalisi, F, Martinez-Glez, V, Heath, KE, Lapunzina, P, Ruiz-Perez, VL . (2017). Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Mol Genet Genomic Med. 5(1): 28-39 (PMID: 28116328) Abstract
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6.- Riancho-Zarrabeitia, L, García-Unzueta, M, Tenorio, JA, Gómez-Gerique, JA, Ruiz Pérez, VL , Heath, KE, Lapunzina, P, Riancho, JA. (2016). Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Eur. J. Intern. Med. 29: 40-45 (PMID: 26783040) Abstract
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7.- Valencia, M , Tabet, L, Yazbeck, N, Araj, A, Ruiz-Perez, VL , Charaffedine, K, Fares, F, Badra, R, Farra, C. (2015). Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. Case Rep Genet. 2015: 528481 (PMID: 26064711) Abstract
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8.- Mattos, EP, Silva, AA, Magalhães, JA, Leite, JC, Leistner-Segal, S, Gus-Kessler, R, Perez, JA, Vedolin, LM, Torreblanca-Zanca, A, Lapunzina, P, Ruiz-Perez, VL , Sanseverino, MT. (2015). Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. Am. J. Med. Genet. A. (PMID: 25913727) Abstract
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9.- 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 . (2015). 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. Hum. Mol. Genet. (PMID: 25908617) Abstract
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10.- Tenorio, J, Mansilla, A, Valencia, M , Martínez-Glez, V, Romanelli, V, Arias, P, Castrejón, N, Poletta, F, Guillén-Navarro, E, Gordo, G, Mansilla, E, García-Santiago, F, González-Casado, I, Vallespín, E, Palomares, M, Mori, MA, Santos-Simarro, F, García-Miñaur, S, Fernández, L, Mena, R, Benito-Sanz, S, del Pozo, Á, Silla, JC, Ibañez, K, López-Granados, E, Martín-Trujillo, A, Montaner, D, , , Heath, KE, Campos-Barros, Á, Dopazo, J, Nevado, J , Monk, D, Ruiz-Pérez, VL , Lapunzina, P. (2014). A new overgrowth syndrome is due to mutations in RNF125. Hum. Mutat. 35(12): 1436-1441 (PMID: 25196541) Abstract
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11.- 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. (2014). Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. Am. J. Med. Genet. A. 164A(5): 1143-1150 (PMID: 24648371) Abstract
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12.- Guillén-Navarro, E, Ballesta-Martínez, MJ, Valencia, M , Bueno, AM, Martinez-Glez, V, López-González, V, Burnyte, B, Utkus, A, Lapunzina, P, Ruiz-Perez, VL . (2014). Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am. J. Med. Genet. A. 164A(5): 1136-1142 (PMID: 24478195) Abstract
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13.- 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. (2013). Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. Am. J. Med. Genet. A. 161A(6): 1354-1369 (PMID: 23613367) Abstract
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14.- 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. (2013). Mutations in WNT1 cause different forms of bone fragility. Am. J. Hum. Genet. 92(4): 565-574 (PMID: 23499309) Abstract
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15.- Nakatomi, M, Hovorakova, M, Gritli-Linde, A, Blair, HJ, MacArthur, K, Peterka, M, Lesot, H, Peterkova, R, Ruiz-Perez, VL , Goodship, JA, Peters, H. (2013). Evc regulates a symmetrical response to Shh signaling in molar development. J. Dent. Res. 92(3): 222-228 (PMID: 23315474) Abstract
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16.- Caparrós-Martín, JA , Valencia, M , Reytor, E , Pacheco, M , Fernandez, M, Perez-Aytes, A, Gean, E, Lapunzina, P, Peters, H, Goodship, JA, Ruiz-Perez, VL . (2013). The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. Hum. Mol. Genet. 22(1): 124-139 (PMID: 23026747) Abstract
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17.- 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 . (2012). Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum. Mutat. 33(10): 1444-1449 (PMID: 22689593) Abstract
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18.- Peraita-Ezcurra, M, Martínez-García, M, Ruiz-Pérez, VL , Sánchez-Gutiérrez, ME, Fenollar-Cortés, M, Vélez-Monsalve, C, Ramos-Corrales, C, Pastor, I, Santonja, C, Trujillo-Tiebas, MJ. (2012). Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. Gene. 499(1): 223-225 (PMID: 22406498) Abstract
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19.- 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 . (2012). Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum. Mutat. 33(2): 343-350 (PMID: 22052668) Abstract
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20.- Pacheco, M , Valencia, M , Caparrós-Martín, JA , Mulero, F, Goodship, JA, Ruiz-Perez, VL . (2012). Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. Bone. 50(1): 28-41 (PMID: 21911092) Abstract
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21.- Palomares, M, Delicado, A, Mansilla, E, de Torres, ML, Vallespín, E, Fernandez, L, Martinez-Glez, V, García-Miñaur, S, Nevado, J , Simarro, FS, Ruiz-Perez, VL , Lynch, SA, Sharkey, FH, Thuresson, AC, Annerén, G, Belligni, EF, Martínez-Fernández, ML, Bermejo, E, Nowakowska, B, Kutkowska-Kazmierczak, A, Bocian, E, Obersztyn, E, Martínez-Frías, ML, Hennekam, RC, Lapunzina, P. (2011). Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am. J. Hum. Genet. 89(2): 295-301 (PMID: 21802062) Abstract
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22.- Blair, HJ, Tompson, S, Liu, YN, Campbell, J, MacArthur, K, Ponting, CP, Ruiz-Perez, VL , Goodship, JA. (2011). Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC Biol. 9: 14 (PMID: 21356043) Abstract
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23.- 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 . (2010). Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am. J. Hum. Genet. 87(1): 110-114 (PMID: 20579626) Abstract
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24.- 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 . (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Hum. Mutat. 30(12): 1667-1675 (PMID: 19810119) Abstract
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25.- Ruiz-Perez, VL , Goodship, JA. (2009). Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 151C(4): 341-351 (PMID: 19876929) Abstract
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26.- 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 . (2008). Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum. Mutat. 29(7): 931-938 (PMID: 18454448) Abstract
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27.- Ruiz-Perez, VL , Blair, HJ, Rodriguez-Andres, ME, Blanco, MJ, Wilson, A, Liu, YN, Miles, C, Peters, H, Goodship, JA. (2007). Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development. 134(16): 2903-2912 (PMID: 17660199) Abstract
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28.- Tompson, SW, Ruiz-Perez, VL , Blair, HJ, Barton, S, Navarro, V, Robson, JL, Wright, MJ, Goodship, JA. (2007). Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum. Genet. 120(5): 663-670 (PMID: 17024374) Abstract
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29.- Pan-Hammarström, Q, Lähdesmäki, A, Zhao, Y, Du, L, Zhao, Z, Wen, S, Ruiz-Perez, VL , Dunn-Walters, DK, Goodship, JA, Hammarström, L. (2006). Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation. J. Exp. Med. 203(1): 99-9110 (PMID: 16390936) Abstract
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30.- O'Driscoll, M, Ruiz-Perez, VL , Woods, CG, Jeggo, PA, Goodship, JA. (2003). A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat. Genet. 33(4): 497-501 (PMID: 12640452) Abstract
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31.- Ruiz-Perez, VL , Tompson, SW, Blair, HJ, Espinoza-Valdez, C, Lapunzina, P, Silva, EO, Hamel, B, Gibbs, JL, Young, ID, Wright, MJ, Goodship, JA. (2003). Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am. J. Hum. Genet. 72(3): 728-732 (PMID: 12571802) Abstract
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32.- Tompson, SW, Ruiz-Perez, VL , Wright, MJ, Goodship, JA. (2001). Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. J. Med. Genet. 38(6): E18 (PMID: 11389165)
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33.- Hagan, DM, Ross, AJ, Strachan, T, Lynch, SA, Ruiz-Perez, V , Wang, YM, Scambler, P, Custard, E, Reardon, W, Hassan, S, Nixon, P, Papapetrou, C, Winter, RM, Edwards, Y, Morrison, K, Barrow, M, Cordier-Alex, MP, Correia, P, Galvin-Parton, PA, Gaskill, S, Gaskin, KJ, Garcia-Minaur, S, Gereige, R, Hayward, R, Homfray, T. (2000). Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am. J. Hum. Genet. 66(5): 1504-1515 (PMID: 10749657) Abstract
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34.- 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. (2000). Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet. 24(3): 283-286 (PMID: 10700184) Abstract
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35.- Navarro, E, Ruiz-Pérez, VL , Torres-Martínez, S. (2000). Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides. Eur. J. Biochem. 267(3): 800-807 (PMID: 10651817) Abstract
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36.- Ruiz-Perez, VL , Carter, SA, Healy, E, Todd, C, Rees, JL, Steijlen, PM, Carmichael, AJ, Lewis, HM, Hohl, D, Itin, P, Vahlquist, A, Gobello, T, Mazzanti, C, Reggazini, R, Nagy, G, Munro, CS, Strachan, T. (1999). ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Hum. Mol. Genet. 8(9): 1621-1630 (PMID: 10441324) Abstract
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37.- Sakuntabhai, A, Ruiz-Perez, V , Carter, S, Jacobsen, N, Burge, S, Monk, S, Smith, M, Munro, CS, O'Donovan, M, Craddock, N, Kucherlapati, R, Rees, JL, Owen, M, Lathrop, GM, Monaco, AP, Strachan, T, Hovnanian, A. (1999). Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat. Genet. 21(3): 271-277 (PMID: 10080178) Abstract
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38.- Ross, AJ, Ruiz-Perez, V , Wang, Y, Hagan, DM, Scherer, S, Lynch, SA, Lindsay, S, Custard, E, Belloni, E, Wilson, DI, Wadey, R, Goodman, F, Orstavik, KH, Monclair, T, Robson, S, Reardon, W, Burn, J, Scambler, P, Strachan, T. (1998). A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat. Genet. 20(4): 358-361 (PMID: 9843207) Abstract
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39.- Monk, S, Sakuntabhai, A, Carter, SA, Bryce, SD, Cox, R, Harrington, L, Levy, E, Ruiz-Perez, VL , Katsantoni, E, Kodvawala, A, Munro, CS, Burge, S, Larrègue, M, Nagy, G, Rees, JL, Lathrop, M, Monaco, AP, Strachan, T, Hovnanian, A. (1998). Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region. Am. J. Hum. Genet. 62(4): 890-903 (PMID: 9529352) Abstract
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40.- Ruiz-Pérez, VL , Murillo, FJ, Torres-Martínez, S. (1996). Prt1, an unusual retrotransposon-like sequence in the fungus Phycomyces blakesleeanus. Mol. Gen. Genet. 253(3): 324-333 (PMID: 9003319) Abstract
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41.- Ruiz-Pérez, VL , Murillo, FJ, Torres-Martínez, S. (1995). PkpA, a novel Phycomyces blakesleeanus serine/threonine protein kinase. Curr. Genet. 28(4): 309-316 (PMID: 8590476) Abstract
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