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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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28116328
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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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Barreda-Sanchez M, Buendia-Martinez J, Glover-Lopez G, Carazo-Diaz C, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Rodriguez-Pena L, Serrano-Anton AT, Gil-Ferrer R, Martinez-Romero MDC, Carbonell-Meseguer P, Guillen-Navarro E. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. PubMed PMID: 30808393; PubMed Central PMCID: PMC6390611.
AÑO: 2019; IF: 3.523
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Sanchez-Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Domingo-Martinez R, Perez-Fernandez V, Guillen-Navarro E. [Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study]. An Pediatr (Engl Ed). 2020 Apr;92(4):200-207. doi: 10.1016/j.anpedi.2019.07.006. Epub 2019 Sep 2. Spanish. PubMed PMID: 31488383.
AÑO: 2020; IF: 1.5
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Martinez-Romero MC, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Serrano-Anton AT, Barreda-Sanchez M, Rodriguez-Pena L, Martinez-Menchon MT, Frias-Iniesta J, Sanchez-Pedreno P, Carbonell-Meseguer P, Glover-Lopez G, Guillen-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. PubMed PMID: 31796081; PubMed Central PMCID: PMC6892193.
AÑO: 2019; IF: 3.523
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