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Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. English, Spanish. PubMed PMID: 22465605.
AÑO: 2012; IF: 3.204
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22465605
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Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. PubMed PMID: 22521955.
AÑO: 2012; IF: 2.834
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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. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. PubMed PMID: 22689593.
AÑO: 2012; IF: 5.213
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Martínez-Lage JF, Guillén-Navarro E, López-Guerrero AL, Almagro MJ, Cuartero-Pérez B, de la Rosa P. Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. Childs Nerv Syst. 2011 Dec;27(12):2035-9. doi: 10.1007/s00381-011-1606-7. Epub 2011 Oct 13. PubMed PMID: 21994050.
AÑO: 2011; IF: 1.542
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Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szyma?ska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. PubMed PMID: 22059643; PubMed Central PMCID: PMC3223498.
AÑO: 2011; IF: 5.074
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