Portal de investigación
Función del factor de traducción eIF5A en la síntesis del colágeno y en colagenopatías.
Datos básicos
- Código:
- AICO/2020/086
- Protocolo:
- AICO/2020/086
- EUDRACT:
- NCT:
- Centro:
- Dotación:
- Año de incio:
- 2020
- Año de finalización:
- 2021
Objetivos del proyecto
PROYECTO EXTERNO. COCNESION EXTERNA UV.
Documentos
- No hay documentos
Participantes
Grupos
Resultados del Ensayo Clínico
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chediak-Higashi Syndrome.
Boluda-Navarro, Mireia; (...); Cervera, Jose Vicente
Article. 10.3389/fimmu.2021.625591. 2021
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
Moret A; (...); Bonanad S
Article. 10.1007/s11239-020-02065-z. 2020
Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment
Wypasek, Ewa; (...); Undas, Anetta
Article. 10.20452/pamw.16072. 2021
FROM CEREBRAL HEMORRAGE AND SUSPICTION OF CHILD ABUSE TO DIAGNOSIS OF FAMILIAR EHLERS DANLOS SYNDROME DUE TO DELECION IN COL5A1 GENE
Reina, PM; (...); Buselli, ME
Meeting Abstract. 2020
Genotype FBN1/Phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A; (...); Sepúlveda P
Article. 10.1111/cge.13879. 2020
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): Genotype and phenotype characteristics in a cohort of 197 patients.
Beatriz Sanchez-Heras, Ana; (...); Luis soto, Jose
Meeting Abstract. 2020
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Sánchez-Heras AB; (...); Soto JL
Article. 10.3390/cancers12113277. 2020
Kidney manifestations in patients with hereditary leiomyomatosis and renal cell cancer syndrome (LHRCC) in Spain
Sanchez, A. B.; (...); Soto, J. L.
Meeting Abstract. 10.1016/j.annonc.2020.08.806. 2020
Recruitment of Xrn1 to stress-induced genes allows efficient transcription by controlling RNA polymerase II backtracking.
García-Martínez J; (...); Alepuz P
Article. 10.1080/15476286.2020.1857521. 2021
REMOVAL OF GERMINAL LINE MUTATIONS IN PATIENTS WITH MDS AND AML: WHO SHOULD BE PERFORMED?
Santiago, Marta; (...); Cervera, Jose
Meeting Abstract. 2020