INSTITUTO DE BIOMEDICINA Y GENÉTICA MOLECULAR (IBGM)
Institut
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 (12)
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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The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
iScience, Vol. 26, Núm. 8
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
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
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Lncrna-mrna co-expression analysis identifies al133346.1/ccn2 as biomarkers in pediatric b-cell acute lymphoblastic leukemia
Cancers, Vol. 12, Núm. 12, pp. 1-15
2018
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Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome
Frontiers in Genetics, Vol. 9, Núm. JAN
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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
2013
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Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry
Neurobiology of Disease, Vol. 55, pp. 140-151
2008
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Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement
Journal of Investigative Dermatology, Vol. 128, Núm. 6, pp. 1565-1575
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Room temperature storage of cultured human articular chondrocytes
Cell Preservation Technology, Vol. 6, Núm. 3, pp. 199-206