|
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. PubMed PMID: 21248736; PubMed Central PMCID: PMC3060332.
AÑO: 2011; IF: 4.4
|
21248736
|
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
|
|
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
|
|
Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2010 May;302(4):307-10. doi: 10.1007/s00403-009-1013-z. Epub 2009 Dec 24. PubMed PMID: 20033817.
AÑO: 2010; IF: 2.011
|
|
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
|