Search Results - "Pérez, José M. Carbonell"

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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A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome? by Galán‐Gómez, Enrique, Carbonell‐Pérez, José M., Cardesa‐García, Juan J., Val‐Sánchez de León, José M., Campo‐Sampedro, Francisco M., Martínez‐Frías, María Luisa, Frías, Jaime L.

“…We report two siblings, a boy and a girl, with a constellation of anomalies that overlap the phenotypes of Kabuki and Malpuech syndromes. Both patients had a…”
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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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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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A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome? by Galán-Gómez, Enrique, Carbonell-Pérez, José M., Cardesa-García, Juan J., Val-Sánchez de León, José M., Campo-Sampedro, Francisco M., Martínez-Frías, María Luisa, Frías, Jaime L.

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