Genética, Fisiología y Microbiología
Departamento
Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (116)
2024
-
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma
Best Practice and Research: Clinical Endocrinology and Metabolism
-
Metabolomic profile of neuroendocrine tumors identifies methionine, porphyrin, and tryptophan metabolisms as key dysregulated pathways associated with patient survival
European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 62-74
-
Nivolumab plus platinum-doublet chemotherapy in treatment-naive patients with advanced grade 3 Neuroendocrine Neoplasms of gastroenteropancreatic or unknown origin: The multicenter phase 2 NICE-NEC trial (GETNE-T1913)
Nature Communications, Vol. 15, Núm. 1
2023
-
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma
Nature Communications, Vol. 14, Núm. 1
-
Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas
Frontiers in Endocrinology, Vol. 14
-
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478
-
Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation
International Journal of Molecular Sciences, Vol. 24, Núm. 1
-
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
International Journal of Molecular Sciences, Vol. 24, Núm. 14
-
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia
International Journal of Molecular Sciences, Vol. 24, Núm. 21
-
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
Genes, Vol. 14, Núm. 10
2022
-
903 Protein Saver cards: the best alternative for dried blood spot storage at room temperature for HCV RNA
Scientific Reports, Vol. 12, Núm. 1
-
Dynamics of HIV Reservoir and HIV‐1 Viral Splicing in HCV‐Exposed Individuals after Elimination with DAAs or Spontaneous Clearance
Journal of Clinical Medicine, Vol. 11, Núm. 13
-
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study
International Journal of Molecular Sciences, Vol. 23, Núm. 8
-
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics, Vol. 13
2021
-
Analysis of telomere maintenance related genes reveals NOP10 as a new metastatic-risk marker in pheochromocytoma/paraganglioma
Cancers, Vol. 13, Núm. 19
-
Expanding the phenotypic spectrum of pax6 mutations: From congenital cataracts to nystagmus
Genes, Vol. 12, Núm. 5
-
Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutation screening in spanish families
Genes, Vol. 12, Núm. 4
-
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females
Clinical Genetics
-
Persistent low-Level viremia in persons living with HIV undertreatment: An unresolved status
Virulence, Vol. 12, Núm. 1, pp. 2919-2931
-
SARS-CoV-2 IgG seropositivity in a cohort of 449 non-hospitalized individuals during Spanish COVID-19 lockdown
Scientific Reports, Vol. 11, Núm. 1