FAC MEDICINA
Centro
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (26)
2024
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Pediatric Neurology, Vol. 155, pp. 8-17
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High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures
International Journal of Molecular Sciences, Vol. 25, Núm. 4
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
PLoS ONE, Vol. 18, Núm. 9 September
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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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 stature and scoliosis: Revealing signs of ultrarare skeletal dysplasia
Anales de Pediatria
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The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
iScience, Vol. 26, Núm. 8
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Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
Scientific Reports, Vol. 13, Núm. 1
2022
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A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility
Cancers, Vol. 14, Núm. 19
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family
Medicina Clinica
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The association of telomere length with substance use disorders: a systematic review and meta-analysis of observational studies
Addiction, Vol. 116, Núm. 8, pp. 1954-1972
2020
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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
Molecular Vision, Vol. 26, pp. 216-225
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
2018
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome
British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206
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Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy
International Journal of Molecular Sciences, Vol. 19, Núm. 2
2017
2014
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Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes
Medicina Clinica, Vol. 143, Núm. 1, pp. 25-28