Pediatría
Departamento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (35)
2024
2023
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Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
PloS one, Vol. 18, Núm. 7, pp. e0287515
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SHORT syndrome: A good case can break an old acronym
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 3, pp. 220-222
2022
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Development of Lung Function in Preterm Infants During the First Two Years of Life
Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood
eLife, Vol. 11
2021
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Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family
Medicina Clinica
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75
2020
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Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia
Mitochondrion, Vol. 55, pp. 78-84
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Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants
Pediatric Allergy and Immunology, Vol. 31, Núm. 2, pp. 124-132
2019
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A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 3, pp. 407-413
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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Clinical Genetics
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Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
Frontiers in Genetics, Vol. 10
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
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Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401
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Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379
2018
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GATA4 variants in individuals with a 46,XY Disorder of Sex Development (DSD) may or may not be associated with cardiac defects depending on second hits in other DSD genes
Frontiers in Endocrinology, Vol. 9, Núm. APR