Search Results - "Balsera, Aránzazu Margallo"

The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome by Rodríguez-López, Raquel, Pérez, José M. Carbonell, Balsera, Aránzazu Margallo, Rodríguez, Guillermo Gervasini, Moreno, Trinidad Herrera, García de Cáceres, Mayte, Serrano, Marta González-Carpio, Freijo, Felipe Casanueva, Ruiz, Juan Ramón González, Angueira, Francisco Barros, Pérez, Pilar Méndez, Estévez, Manuela Núñez, Gómez, Enrique Galán

“…Individuals who are carriers of deletions of various sizes that cause haploinsufficiency in the contiguous WT1 and PAX6 genes, located on chromosome 11p13…”
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Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population by Albuquerque, David, Estévez, Manuela Núñez, Víbora, Pilar Beato, Giralt, Plácida Sánchez, Balsera, Aránzazu Margallo, Cortés, Pedro Gil, López, Mercedes Jiménez, Luego, Luis Miguel, Gervasini, Guillermo, Hernández, Sergio Barroso, Arroyo‐Díez, Javier, Vacas, Manuel Arrobas, Nóbrega, Clévio, Manco, Licínio, Rodríguez‐López, Raquel

“…Summary We screened for mutations in the MC4R and LEPR genes and investigated the genotype‐phenotype correlation in obese individuals belonging to families…”
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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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Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population: MC4R and LEPR analysis in Iberian population by Albuquerque, David, Estévez, Manuela Núñez, Víbora, Pilar Beato, Giralt, Plácida Sánchez, Balsera, Aránzazu Margallo, Cortés, Pedro Gil, López, Mercedes Jiménez, Luego, Luis Miguel, Gervasini, Guillermo, Hernández, Sergio Barroso, Arroyo-Díez, Javier, Vacas, Manuel Arrobas, Nóbrega, Clévio, Manco, Licínio, Rodríguez-López, Raquel

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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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