Publications by authors named "Maria-Esperanza Teresa-Rodrigo"

9Publications

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

Med Clin (Barc) 2017 Oct 16;149(7):300-302. Epub 2017 Jun 16.

Unidad de Genética Clínica y Genómica Funcional, Departamentos de Farmacología-Fisiología y Servicio de Pediatría del Hospital Clínico Universitario "Lozano Blesa". Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2017.03.051DOI Listing
October 2017

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Mol Genet Metab 2013 Apr 4;108(4):232-40. Epub 2013 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.019DOI Listing
April 2013

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

Mol Biol Rep 2012 Apr 28;39(4):4777-85. Epub 2011 Sep 28.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s11033-011-1270-8DOI Listing
April 2012