Guillén-Navarro E - Search Results

1

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Buendía-Martínez J, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):106. doi: 10.1186/s13023-021-01742-3. Orphanet J Rare Dis. 2021. PMID: 33639982 Free PMC article.

2

[The current state of acute intermittent porphyria in the region of Murcia].

Fernández-Barreiro A, Guillén-Navarro E, Tortosa-Conesa D, Meca-Lallana JE. Fernández-Barreiro A, et al. Rev Neurol. 2004 May 1-15;38(9):895-6. Rev Neurol. 2004. PMID: 15152361 Free article. Spanish. No abstract available.

3

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.

Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A. Guillén-Navarro E, et al. Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x. Ann Hum Genet. 2004. PMID: 15469427

4

[Monogenic causes of X-linked mental retardation].

Guillén-Navarro E, Glóver-López G. Guillén-Navarro E, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9. Rev Neurol. 2006. PMID: 16506132 Free article. Review. Spanish.

5

[Fragile X syndrome].

Glóver-López G, Guillén-Navarro E. Glóver-López G, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S51-4. Rev Neurol. 2006. PMID: 16506133 Free article. Review. Spanish.

6

[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum].

Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. Ballesta Martínez MJ, et al. An Pediatr (Barc). 2008 Oct;69(4):304-10. doi: 10.1157/13126553. An Pediatr (Barc). 2008. PMID: 18928696 Free article. Spanish.

7

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. Vera-Carbonell A, et al. Am J Med Genet A. 2009 Nov;149A(11):2513-21. doi: 10.1002/ajmg.a.33055. Am J Med Genet A. 2009. PMID: 19842199

8

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.

Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. Moya-Quiles MR, et al. Arch Dermatol Res. 2010 May;302(4):307-10. doi: 10.1007/s00403-009-1013-z. Epub 2009 Dec 24. Arch Dermatol Res. 2010. PMID: 20033817

9

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.

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. Vera-Carbonell A, et al. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Am J Med Genet A. 2010. PMID: 20799321 Review.

10

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9. Gene. 2012. PMID: 22342398

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