UNIOVI-PEDIATRIA
OVIPED
Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (24)
2022
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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
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Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome
Nefrologia, Vol. 41, Núm. 1, pp. 62-68
2017
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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, Vol. 12, Núm. 3
2015
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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
2014
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Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia
Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4
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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Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
PLoS ONE, Vol. 8, Núm. 9
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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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Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus
Molecular Genetics and Metabolism, Vol. 105, Núm. 3, pp. 525-527
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Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia
Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250
2011
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APOE and Alzheimer disease: A major gene with semi-dominant inheritance
Molecular Psychiatry, Vol. 16, Núm. 9, pp. 903-907
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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
Nature Genetics, Vol. 43, Núm. 5, pp. 429-436
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Erratum: Pharmacogenetics of tacrolimus after renal transplantation: Analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes (Clinical Chemistry and Laboratory Medicine (2011) 49:5 (825-833))
Clinical Chemistry and Laboratory Medicine
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Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations
Neurobiology of Aging, Vol. 32, Núm. 4, pp. 756.e11-756.e15
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Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life
Nephrology Dialysis Transplantation, Vol. 26, Núm. 1, pp. 151-155
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Growth of kidney-transplanted pediatric patients treated with sirolimus
Pediatric Nephrology, Vol. 26, Núm. 6, pp. 961-966
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KCNQ1 gene variants and risk of new-onset diabetes in tacrolimus-treated renal-transplanted patients
Clinical Transplantation, Vol. 25, Núm. 3
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Pharmacogenetics of tacrolimus after renal transplantation: Analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes
Clinical Chemistry and Laboratory Medicine, Vol. 49, Núm. 5, pp. 825-833
2010
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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
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The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: A meta-analysis study
Journal of Alzheimer's Disease, Vol. 22, Núm. 1, pp. 247-255