Pardal-Fernández JM - Search Results

1

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML. Carrascosa-Romero MC, et al. Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894067

2

[Chromosome 21 ring (r21) and epilepsy].

Pardal Fernández JM, Jerez García P, Carrascosa Romero MC, Marco Giner J. Pardal Fernández JM, et al. An Pediatr (Barc). 2004 Apr;60(4):379-81. doi: 10.1016/s1695-4033(04)78290-9. An Pediatr (Barc). 2004. PMID: 15033121 Free article. Spanish. No abstract available.

3

[Embryopathy due to valproic acid with severe malformations in the central nervous system].

Pardal-Fernández JM, Carrascosa-Romero MC, Rodríguez-Vázquez M, Marco-Giner J, Martínez-Gutiérrez A. Pardal-Fernández JM, et al. Rev Neurol. 2006 Mar 16-31;42(6):336-40. Rev Neurol. 2006. PMID: 16575769 Free article. Spanish.

4

[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family].

Carrascosa-Romero MC, Pardal-Fernández JM, Sotoca-Fernández J, Onsurbe I, Tébar-Gil R. Carrascosa-Romero MC, et al. Rev Neurol. 2007 Aug 16-31;45(4):229-32. Rev Neurol. 2007. PMID: 17668405 Free article. Spanish.

5

[Neurocristopathies: a high incidence of cerebral dysgenesis in patients with Hirschsprung's disease].

Carrascosa-Romero MC, Fernández-Córdoba MS, Gonzálvez-Piñera J, Gutiérrez-Junquera C, Pardal-Fernández JM. Carrascosa-Romero MC, et al. Rev Neurol. 2007 Dec 16-31;45(12):707-12. Rev Neurol. 2007. PMID: 18075983 Free article. Spanish.

6

Congenital gingival hyperplasia in a neonate with foetal valproate syndrome.

Rodríguez-Vázquez M, Carrascosa-Romero MC, Pardal-Fernández JM, Iniesta I. Rodríguez-Vázquez M, et al. Neuropediatrics. 2007 Oct;38(5):251-2. doi: 10.1055/s-2007-985901. Neuropediatrics. 2007. PMID: 18330840

7

Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.

Pardal-Fernández JM, Carrascosa-Romero MC, de Cabo-de la Vega C, Iniesta-López I, Gil-Pons E, Martínez-Gutiérrez A. Pardal-Fernández JM, et al. Epileptic Disord. 2009 Mar;11(1):48-53. doi: 10.1684/epd.2009.0249. Epub 2009 Mar 20. Epileptic Disord. 2009. PMID: 19299230 Free article.

8

Periodic Lateralized Epileptiform Discharges (PLEDs) and pneumococcal meningoencephalitis.

Pardal-Fernández JM, Bengoa M, Carrascosa-Romero MC. Pardal-Fernández JM, et al. Eur J Paediatr Neurol. 2012 Nov;16(6):749-52. doi: 10.1016/j.ejpn.2012.03.008. Epub 2012 May 11. Eur J Paediatr Neurol. 2012. PMID: 22578741

9

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

Giráldez BG, Guerrero-López R, Ortega-Moreno L, Verdú A, Carrascosa-Romero MC, García-Campos Ó, García-Muñozguren S, Pardal-Fernández JM, Serratosa JM. Giráldez BG, et al. Neuromuscul Disord. 2015 Mar;25(3):222-4. doi: 10.1016/j.nmd.2014.11.007. Epub 2014 Nov 22. Neuromuscul Disord. 2015. PMID: 25578555

10

Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome.

Grande-Martín A, Pardal-Fernández JM, Carrascosa-Romero MC, De Cabo C. Grande-Martín A, et al. Neuropediatrics. 2016 Jun;47(3):187-9. doi: 10.1055/s-0036-1579632. Epub 2016 Mar 15. Neuropediatrics. 2016. PMID: 26979444

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