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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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30808393
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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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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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Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28. PubMed PMID: 26833329; PubMed Central PMCID: PMC4746363.
AÑO: 2016; IF: 9.025
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Sánchez-Soler MJ, Barreda-Sánchez M, Ballesta-Martínez MJ, Glóver G, Guillén-Navarro E. [Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]. An Pediatr (Barc). 2016 Feb;84(2):114-5. doi: 10.1016/j.anpedi.2015.09.002. Epub 2015 Oct 20. Spanish. PubMed PMID: 26497633.
AÑO: 2016; IF: 1.14
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