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López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E. [Schinzel-Giedion syndrome: a new mutation in SETBP1]. An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Spanish. PubMed PMID: 25082129.
AÑO: 2015; IF: 0.773
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25082129
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Micol-Martínez O, López-González V, Garcia-Marcos PW, Martínez-Menchón T, Guillén-Navarro E. [Congenital pachyonychia: A new case associated with the KRT17 gene]. An Pediatr (Barc). 2016 Mar;84(3):174-6. doi: 10.1016/j.anpedi.2015.08.002. Epub 2015 Dec 25. Spanish. PubMed PMID: 26724900.
AÑO: 2016; IF: 1.14
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Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, Belinchón A, López-González V, Sentchordi-Montané L, del Pozo Á, Santos-Simarro F, Campos-Barros Á, Lapunzina P, Guillén-Navarro E, González-Casado I, García-Miñaur S, Heath KE. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. Am J Med Genet A. 2016 Jan;170A(1):210-6. doi: 10.1002/ajmg.a.37393. Epub 2015 Sep 16. PubMed PMID: 26374189.
AÑO: 2016; IF: 2.259
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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. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. PubMed PMID: 28116328; PubMed Central PMCID: PMC5241205.
AÑO: 2017; IF: 2.695
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Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. PubMed PMID: 27101134.
AÑO: 2016; IF: 8.229
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