Search Results - "Beltrán, Emilia Balboa"

Long Survival and Severe Toxicity Under 5-Fluorouracil–Based Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS by Balboa-Beltrán, Emilia, BA, Duran, Goretti, BA, Lamas, María Jesús, PhD, Carracedo, Angel, PhD, Barros, Francisco, PhD

“…Abstract We report the first clinical description of a patient with cancer with a heterozygous germline codon-stop mutation in the TYMS gene. The mutation…”
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Distinct mechanism of formation of the 48, XXYY karyotype by Balsera, Aránzazu Margallo, Estévez, Manuela Núñez, Beltrán, Emilia Balboa, Sánchez-Giralt, Plácida, García, Luz González, Moreno, Trinidad Herrera, García de Cáceres, Mayte, Carbonell Pérez, José M, Gómez, Enrique Galán, Rodríguez-López, Raquel

“…To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the…”
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Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis by Balboa-Beltrán, Emilia, Cruz, Raquel, Carracedo, Angel, Barros, Francisco

“…Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been…”
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Long Survival and Severe Toxicity Under 5-FluorouracileBased Therapy in a Patient With Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS by Balboa-Beltrán, Emilia, Duran, Goretti, Lamas, María Jesús, Carracedo, Angel, Barros, Francisco

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A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease by Balboa-Beltran, Emilia, Fernández-Seara, María J, Pérez-Muñuzuri, Alejandro, Lago, Ramón, García-Magán, Carlos, Couce, María L, Sobrino, Beatriz, Amigo, Jorge, Carracedo, Angel, Barros, Francisco

“…Milroy and Milroy-like disease are rare disorders characterised by congenital lymphoedema caused by dysfunctional lymphatic vessel formation. Loss of…”
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Distinct mechanism of formation of the 48, XXYY karyotype by Balsera, Aránzazu Margallo, Estévez, Manuela Núñez, Beltrán, Emilia Balboa, Sánchez-Giralt, Plácida, García, Luz González, Moreno, Trinidad Herrera, García de Cáceres, Mayte, Carbonell Pérez, José M, Gómez, Enrique Galán, Rodríguez-López, Raquel

“…BACKGROUNDTo expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based…”
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