Search Results - "Pérez Delgado, R."

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs10) is associated to Weiss-Kruszka syndrome. A case report by González-Tarancón, R, Salvador-Rupérez, E, Miramar Gallart, M D, Barroso, E, Díez García-Prieto, I, Pérez Delgado, R, López Pisón, J, García Jiménez, M C

“…Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the gene or deletion of 9p31.2 chromosome region, involving . The prevalence of WSKA is…”
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Consolidation treatment with Yttrium-90 ibritumomab tiuxetan after new induction regimen in patients with intermediate- and high-risk follicular lymphoma according to the follicular lymphoma international prognostic index: a multicenter, prospective phase II trial of the Spanish Lymphoma Oncology Group by Provencio, Mariano, Cruz Mora, Miguel Á., Gómez-Codina, José, Quero Blanco, Cristina, Llanos, Marta, García-Arroyo, Francisco R., de la Cruz, Luis, Gumá Padró, Josep, Delgado Pérez, Juan R., Sánchez, Antonio, Álvarez Cabellos, Ruth, Rueda, Antonio

“…Abstract Relapse is the main cause of therapeutic failure in follicular lymphoma (FL). We set out to evaluate the role of consolidation with Yttrium-90…”
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Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010 by López-Pisón, J, García-Jiménez, M.C, Monge-Galindo, L, Lafuente-Hidalgo, M, Pérez-Delgado, R, García-Oguiza, A, Peña-Segura, J.L

“…Resumen Introducción El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica…”
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Prematuridad con parálisis cerebral y ceroidolipofuscinosis by Peña-Segura, J.L, Póo Argüelles, P, Lafuente Hidalgo, M, García Sánchez, V, Pérez Delgado, R, Monge Galindo, L, García Jiménez, M.C, Rebage Moisés, V, López Pisón, J

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Encefalopatías prenatales. Nuestra experiencia diagnóstica de 19 años. ¿Hasta dónde con los estudios bioquímicos y genéticos? by López Pisón, J, García Jiménez, M.C, Lafuente Hidalgo, M, Pérez Delgado, R, Monge Galindo, L, Cabrerizo de Diago, R, Rebage Moisés, V, Peña Segura, J.L, Baldellou Vázquez, A

“…Resumen Introducción Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un…”
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Epilepsia de inicio entre el mes y los tres meses de vida: nuestra experiencia de 11 años by Pérez Delgado, R, Lafuente Hidalgo, M, López Pisón, J, Sebastián Torres, B, Torres Claveras, S, García Jiménez, M.C, Baldellou Vázquez, A, Peña Segura, J.L

“…Resumen Introducción El pronóstico de la epilepsia está determinado fundamentalmente por la etiología; se asocia en general peor evolución con comienzo precoz…”
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Adolescents Satisfaction with Life in Venezuela by Pérez Delgado, Aquiles R.

“…The study of satisfaction with life in the country of adolescents in the city of Caracas - Venezuela, is measured using subjective social indicators, in order…”
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Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010 by López-Pisón, J., García-Jiménez, M.C., Monge-Galindo, L., Lafuente-Hidalgo, M., Pérez-Delgado, R., García-Oguiza, A., Peña-Segura, J.L.

“…Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological…”
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Safety of Imatinib Mesylate in a Multicenter Expanded Access Program in Adult Patients with Gastrointestinal Stromal Tumors in the Adjuvant Setting by Reichardt, Peter, Schlemmer, Marcus, Delgado Perez, Juan R, Papai, Zsuzsanna, Prausova, Jana, Melichar, Bohuslav, Fumagalli, Elena, Barone, Carlo, Bauer, Sebastian, Pustowka, Anette, Crippa, Stefania, Castellana, Ramon, Quiering, Claudia, Le Cesne, Axel

“…Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors most often caused by activating mutations of the KIT gene. KIT tyrosine kinase inhibitors…”
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P146 Accelerated time sensation: main differential diagnosis by López-Pisón, J, Monge-Galindo, L, Arana-Navarro, T, Pérez-Delgado, R, Lafuente-Hidalgo, M, Peña-Segura, J.L

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Prenatal encephalopathies of unknown origin. Our 19 years experience. To what extent must genetic and biochemical studies be carried out? by López Pisón, J., García Jiménez, M.C., Lafuente Hidalgo, M., Pérez Delgado, R., Monge Galindo, L., Cabrerizo de Diago, R., Rebage Moisés, V., Peña Segura, J.L., Baldellou Vázquez, A.

“…We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children…”
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Accidente cerebrovascular pediátrico secundario a displasia fibromuscular by Olloqui Escalona, A, Galve Pradel, Z, López Pisón, J, García Oguiza, A, Clavero Montañés, N, Pérez Delgado, R, Lafuente Hidalgo, M, Guelbenzu, S, Peña Segura, J.L

“…Resumen Presentamos el caso de un varón de 13 años diagnosticado de displasia fibromuscular (DFM) por estudio angiográfico, con imagen “arrosariada” de la…”
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Epilepsy onset between one month and three months of life: Our 11 years experience by R. Pérez Delgado, M. Lafuente Hidalgo, J. López Pisón, B. Sebastián Torres, S. Torres Claveras, M.C. García Jiménez, A. Baldellou Vázquez, J.L. Peña Segura

“…Introduction: The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress. Material…”
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La transferencia de neuropediatría a medicina de adultos by López Pisón, J, Monge Galindo, L, Pérez Delgado, R, Lafuente Hidalgo, M, Abenia Uson, P, García Jiménez, M.C, Peña Segura, J.L

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Síndrome de CHARGE y mutación en el gen CHD7 by de Arriba Muñoz, A, Monge Galindo, L, López Pisón, J, Lafuente Hidalgo, M, Pérez Delgado, R, Domínguez Cajal, M, Rebage, V

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Síndromes de Prader-Willi y de Angelman. Expriencia de 21 años by Royo Pérez, D, Monge Galindo, L, López Pisón, J, Pérez Delgado, R, Lafuente Hidalgo, M, Peña Segura, J.L, Miramar Gallart, M.D, Rodriguez Valle, A, Calvo Martín, M.T

“…Resumen Introducción El síndrome de Prader-Willi (SPW) y el síndrome de Angelman (SA), fueron los primeros síndromes en la especie humana que se conocieron…”
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Epilepsy and inborn errors of metabolism by Moya-López, S, Ruiz-Colodrero, A, Sainz-García, J, Fariña-Jara, V, García-Jiménez, M C, Castejón-Ponce, E, López-Pisón, J, Pérez-Delgado, R

“…Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment. To determine its incidence and…”
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Disfunción autonómica paroxística desde el periodo neonatal y meduloblastoma by López Pisón, J, Monge Galindo, L, García Jiménez, M.C, Muñoz Albillos, M, Rodríguez-Vigil, C, Pérez Delgado, R

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Encefalopatía epiléptica por déficit parcial de biotinidasa by Lafuente-Hidalgo, M, Ranz Angulo, R, López Pisón, J, Pérez Delgado, R, Monge Galindo, L, Peña Segura, J.L, García Jiménez, I, Baldellou Vázquez, A

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Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010 by López-Pisón, J, García-Jiménez, M C, Monge-Galindo, L, Lafuente-Hidalgo, M, Pérez-Delgado, R, García-Oguiza, A, Peña-Segura, J L

“…Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological…”
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