ENCARNACION GUILLEN NAVARRO

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

20033817

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

20503313

Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA. Craniosynostosis in Kabuki syndrome. J Neurosurg Pediatr. 2010 Aug;6(2):198-201. doi: 10.3171/2010.5.PEDS09286. PubMed PMID: 20672944.

AÑO: 2010; IF: 2.17

20672944

Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review. PubMed PMID: 20799321.

AÑO: 2010; IF: 2.505

20799321

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

21411386