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Case report of a child bearing a novel deleterious splicing variant in PIGT.
Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Mason S, et al. Among authors: balcells s. Medicine (Baltimore). 2019 Feb;98(8):e14524. doi: 10.1097/MD.0000000000014524. Medicine (Baltimore). 2019. PMID: 30813157 Free PMC article.
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: balcells s. Sci Rep. 2018 Jan 12;8(1):694. doi: 10.1038/s41598-017-19109-9. Sci Rep. 2018. PMID: 29330474 Free PMC article.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Among authors: balcells s. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: balcells s. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation.
Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S, Grinberg D. Agueda L, et al. Among authors: balcells s. J Bone Miner Res. 2011 May;26(5):1133-44. doi: 10.1002/jbmr.293. J Bone Miner Res. 2011. PMID: 21542013 Free article.
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.
Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A. Roca-Ayats N, et al. Among authors: balcells s. J Bone Miner Res. 2018 Dec;33(12):2091-2098. doi: 10.1002/jbmr.3580. Epub 2018 Sep 24. J Bone Miner Res. 2018. PMID: 30184270 Free article.
117 results