Medicina y salud
Disciplina temática
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (15)
2023
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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study
Neurologia, Vol. 38, Núm. 6, pp. 379-386
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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RICORS2040: The need for collaborative research in chronic kidney disease
Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387
2018
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Characterizing patients with multiple chromosomal aberrations detected by FISH in chronic lymphocytic leukemia
Leukemia and Lymphoma, Vol. 59, Núm. 3, pp. 633-642
2016
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A high proportion of cells carrying trisomy 12 is associated with a worse outcome in patients with chronic lymphocytic leukemia
Hematological Oncology, Vol. 34, Núm. 2, pp. 84-92
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Deficiencia parcial de 3β-hidroxiesteroide deshidrogenasa tipo 2: diagnóstico de una nueva mutación tras cribado neonatal positivo de deficiencia de 21-hidroxilasa
Medicina Clinica
2015
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A low frequency of losses in 11q chromosome is associated with better outcome and lower rate of genomic mutations in patients with chronic lymphocytic leukemia
PLoS ONE, Vol. 10, Núm. 12
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Fluorescence in situ hybridization analysis does not increase detection rate for trisomy 8 in chronic myelomonocytic leukemia
Leukemia and Lymphoma
2014
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Interstitial 13q14 deletions detected in the karyotype and translocations with concomitant deletion at 13q14 in chronic lymphocytic leukemia: Different genetic mechanisms but equivalent poorer clinical outcome
Genes Chromosomes and Cancer, Vol. 53, Núm. 9, pp. 788-797
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Pre-treatment circulating leptin/ghrelin ratio as a non-invasive marker to identify patients likely to regain the lost weight after an energy restriction treatment
Journal of Endocrinological Investigation, Vol. 37, Núm. 2, pp. 119-126
2013
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Association of weight regain with specific methylation levels in the NPY and POMC promoters in leukocytes of obese men: A translational study
Regulatory Peptides, Vol. 186, pp. 1-6
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Biallelic losses of 13q do not confer a poorer outcome in chronic lymphocytic leukaemia: Analysis of 627 patients with isolated 13q deletion
British Journal of Haematology, Vol. 163, Núm. 1, pp. 47-54
2010
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BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin
Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69
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Incidence and prognostic impact of secondary cytogenetic aberrations in a series of 145 patients with mantle cell lymphoma
Genes Chromosomes and Cancer, Vol. 49, Núm. 5, pp. 439-451