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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. Among authors: pulido v. 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
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. Among authors: pulido v. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593
A Novel Role for the Tumor Suppressor Gene ITF2 in Tumorigenesis and Chemotherapy Response.
Pernía O, Sastre-Perona A, Rodriguez-Antolín C, García-Guede A, Palomares-Bralo M, Rosas R, Sanchez-Cabrero D, Cruz P, Rodriguez C, Diestro M, Martín-Arenas R, Pulido V, Santisteban P, Castro J, Vera O, Ibáñez de Cáceres I. Pernía O, et al. Among authors: pulido v. Cancers (Basel). 2020 Mar 26;12(4):786. doi: 10.3390/cancers12040786. Cancers (Basel). 2020. PMID: 32224864 Free PMC article.
17 results