FAC MEDICINA
Centre
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (27)
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
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
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