Publications

SPARC gene variants predict clinical outcome in locally advanced and metastatic pancreatic cancer patients.
Med Oncol 2017 Aug 7;34(8):136. Epub 2017 Jul 7.
Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, C/Sant Quintí, 89, 08026, Barcelona, Spain.


Genome-wide DNA methylation profiling predicts relapse in childhood B-cell acute lymphoblastic leukaemia.
Br J Haematol 2013 Feb 30;160(3):406-9. Epub 2012 Oct 30.
Cancer Epigenetics and Biology Programme, Bellvitge Biomedical Research Institute, L Hospitalet de Llobregat, Barcelona, Catalonia, Spain.






Pharmacogenetic study in rectal cancer patients treated with preoperative chemoradiotherapy: polymorphisms in thymidylate synthase, epidermal growth factor receptor, GSTP1, and DNA repair genes.
Int J Radiat Oncol Biol Phys 2011 Dec 11;81(5):1319-27. Epub 2011 May 11.
Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Orphanet J Rare Dis 2011 Oct 17;6:65. Epub 2011 Oct 17.
Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS-La Fe, Valencia, Spain.


Copy-number variations in EYS: a significant event in the appearance of arRP.
Invest Ophthalmol Vis Sci 2011 Jul 29;52(8):5625-31. Epub 2011 Jul 29.
Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.


Association of thymidylate synthase gene polymorphisms with stavudine triphosphate intracellular levels and lipodystrophy.
Antimicrob Agents Chemother 2011 Apr 31;55(4):1428-35. Epub 2011 Jan 31.
Infectious Diseases Unit, Hospital de Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Novel mutations in the USH1C gene in Usher syndrome patients.
Mol Vis 2010 Dec 31;16:2948-54. Epub 2010 Dec 31.
Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS-La Fe, Valencia, Spain.

Thymidylate synthase germline polymorphisms in rectal cancer patients treated with neoadjuvant chemoradiotherapy based on 5-fluorouracil.
J Cancer Res Clin Oncol 2010 Nov 18;136(11):1681-9. Epub 2010 Feb 18.
Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Pare Claret 167, 08025 Barcelona, Spain.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Hum Mutat 2010 Nov;31(11):E1772-800
Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.



[Pyschotherapygenetics. Do genes influence psychotherapy adherence?].
Rev Psiquiatr Salud Ment 2010 Apr 13;3(2):68-71. Epub 2010 May 13.
Departamento de Psiquiatría, Hospital de la Santa Creu i Sant Pau, Barcelona, España; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Universidad Autónoma de Barcelona, Barcelona, España.



Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
Hum Mol Genet 2009 Oct 10;18(19):3673-83. Epub 2009 Jul 10.
Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain.




Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
Blood 2008 Apr 9;111(7):3468-78. Epub 2008 Jan 9.
Department of Genetics and Centro de Investigación Biomédica en Red de Enfermadades Raras Instituto de Salud Carlos III, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.



Association of CYP2D6 ultrarapid metabolizer genotype with deficient patient satisfaction regarding methadone maintenance treatment.
Drug Alcohol Depend 2007 Jul 17;89(2-3):190-4. Epub 2007 Jan 17.
Addictive Behaviors Unit (Psychiatry Department), Hospital de la Santa Creu i Sant Pau, Avda Sant Antoni M. Claret 167, 08025 Barcelona, Spain.


Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Hum Mol Genet 2005 Dec 3;14(24):3865-75. Epub 2005 Nov 3.
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Seville, Spain.







Nurse-driven training courses: impact on implementation of ambulatory blood pressure monitoring.
Open Nurs J 2013 5;7:35-40. Epub 2013 Apr 5.
ABS Canaletes, Institut Català de la Salut. Cerdanyola del Vallès and Barcelona ; ABS Guinardó, Institut Català de la Salut. Cerdanyola del Vallès and Barcelona.


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