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Ibáñez Micó S, Domingo Jiménez R, Guillén Navarro E, Casas Fernández C. [Tuberous sclerosis complex: is there evidence to establish a genotype-phenotype correlation?]. An Pediatr (Barc). 2011 Jun;74(6):421-3. doi: 10.1016/j.anpedi.2011.01.031. Epub 2011 Mar 15. Spanish. PubMed PMID: 21411386.
AÑO: 2011; IF: 0.77
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21411386
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Zieg J, Krepelova A, Baradaran-Heravi A, Levtchenko E, Guillén-Navarro E, Balascakova M, Sukova M, Seeman T, Dusek J, Simankova N, Rosik T, Skalova S, Lebl J, Boerkoel CF. Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. Pediatr Rheumatol Online J. 2011 Sep 13;9(1):27. doi: 10.1186/1546-0096-9-27. PubMed PMID: 21914180; PubMed Central PMCID: PMC3184066.
AÑO: 2011; IF: 1.44
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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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Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review. PubMed PMID: 20503313.
AÑO: 2010; IF: 2.505
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Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat. 2010 Aug;31(8):E1587-93. doi: 10.1002/humu.21298. PubMed PMID: 20648631.
AÑO: 2010; IF: 5.956
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