Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants von Amiñoso, Cinthia, Solera, Jesús

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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy von Amiñoso, Cinthia, Gordillo-Marañón, María, Hernández, Jaime, Solera, Jesús

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Identification of the first deletion–insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element von Amiñoso, Cinthia, Vallespin, Elena, Fernández, Luís, Arrabal, Luisa F., Desviat, Lourdes R., Pérez, Belen, Santos, Fernando, Solera, Jesús

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New mutations associated with Hirschsprung disease von Lorente-Ros, Marta, Andrés, Ane Miren, Sánchez-Galán, Alba, Amiñoso, Cinthia, García, Sixto, Lapunzina, Pablo, Solera-García, Jesús

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Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas von Lomas, Jesus, Bello, M. Josefa, Arjona, Dolores, Alonso, M. Eva, Martinez-Glez, Victor, Lopez-Marin, Isabel, Amiñoso, Cinthia, de Campos, Jose M., Isla, Alberto, Vaquero, Jesus, Rey, Juan A.

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Nuevas mutaciones asociadas a la enfermedad de Hirschsprung von Lorente-Ros, Marta, Andrés, Ane Miren, Sánchez-Galán, Alba, Amiñoso, Cinthia, García, Sixto, Lapunzina, Pablo, Solera García, Jesús

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New mutations associated with Hirschsprung disease von Lorente-Ros, Marta, Andrés, Ane Miren, Sánchez-Galán, Alba, Amiñoso, Cinthia, García, Sixto, Lapunzina, Pablo, Solera García, Jesús

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DNA methylation of multiple promoter-associated CpG islands in meningiomas: relationship with the allelic status at 1p and 22q von Bello, M Josefa, Amiñoso, Cinthia, Lopez-Marin, Isabel, Arjona, Dolores, Gonzalez-Gomez, Pilar, Alonso, M Eva, Lomas, Jesus, de Campos, Jose M, Kusak, M Elena, Vaquero, Jesus, Isla, Alberto, Gutierrez, Manuel, Sarasa, Jose L, Rey, Juan A

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Methylation status of TP73 in meningiomas von Lomas, Jesus, Amiñoso, Cinthia, Gonzalez-Gomez, Pilar, Eva Alonso, M, Arjona, Dolores, Lopez-Marin, Isabel, de Campos, Jose M, Isla, Alberto, Vaquero, Jesus, Gutierrez, Manuel, Sarasa, Jose L, Josefa Bello, M, Rey, Juan A

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CpG island methylation of tumor-related genes in three primary central nervous system lymphomas in immunocompetent patients von Gonzalez-Gomez, Pilar, Bello, M.Josefa, Arjona, Dolores, Alonso, M.Eva, Lomas, Jesus, Amiñoso, Cinthia, de Campos, Jose M., Sarasa, Jose L., Gutierrez, Manuel, Rey, Juan A.

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