UNIOVI-PEDIATRIA
OVIPED
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (18)
2022
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Natural History of MYH7-Related Dilated Cardiomyopathy
Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461
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RICORS2040: The need for collaborative research in chronic kidney disease
Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387
2021
2017
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrologia, Vol. 37, Núm. 4, pp. 423-428
2015
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Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Brain
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Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: Successful in children and a challenge in adolescents and adults
Nephrology Dialysis Transplantation, Vol. 30, Núm. 3, pp. 475-480
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MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium
Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352
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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385
2013
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Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
PLoS ONE, Vol. 8, Núm. 1
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Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene
Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262
2012
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Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia
Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250
2010
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Improvement in growth after 1 year of growth hormone therapy in well-nourished infants with growth retardation secondary to chronic renal failure: Results of a multicenter, controlled, randomized, open clinical trial
Clinical Journal of the American Society of Nephrology, Vol. 5, Núm. 7, pp. 1190-1197
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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
BMC Neurology, Vol. 10
2008
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Diálisis peritoneal pediátrica en España: Análisis de supervivencia y datos epidemiológicos actuales
Nefrologia
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Estado actual de la diálisis peritoneal crónica en la edad pediátrica: Prescripción, adecuación y complicaciones
Nefrologia
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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies
Molecular Immunology, Vol. 45, Núm. 2, pp. 479-484