Search Results - "Calleja Pérez, Beatriz"

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy by Rodríguez, Cristina, Sánchez‐Morán, Irene, Álvarez, Sara, Tirado, Pilar, Fernández‐Mayoralas, Daniel M., Calleja‐Pérez, Beatriz, Almeida, Ángeles, Fernández‐Jaén, Alberto

“…The Fizzy‐related protein 1 (Fzr1) gene encodes Cdh1 protein, a coactivator of the E3 ubiquitin ligase anaphase‐promoting complex/cyclosome (APC/C)…”
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Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings by Jiménez de la Peña, Mar, Rincón‐Pérez, Irene, López‐Martín, Sara, Albert, Jacobo, Martín Fernández‐Mayoralas, Daniel, Fernández‐Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja‐Pérez, Beatriz, Porta, Javier, Álvarez, Sara, Fernández‐Jaén, Alberto

“…Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic…”
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A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression by Paganoni, Alyssa J J, Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna

“…Intellectual disability (ID) is a neurological disorder arising from early neurodevelopmental defects. The underlying genetic and molecular mechanisms are…”
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ANO3 and early-onset dyskinetic encephalopathy by Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto

“…Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype…”
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Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome by Fernández-Jaén, Alberto, Castellanos, María del Carmen, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, de la Vega, Alberto González, Calleja-Pérez, Beatriz, Fernández, Ester Corbacho, Albert, Jacobo, Hombre, María Carmen Sánchez

“…Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first…”
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Cortical Thickness in Fetal Alcohol Syndrome and Attention Deficit Disorder by Fernández-Jaén, Alberto, MD, Fernández-Mayoralas, Daniel Martín, MD, PhD, Quiñones Tapia, Diana, MD, Calleja-Pérez, Beatriz, MD, García-Segura, Juan Manuel, MD, Arribas, Sonia López, MD, Muñoz Jareño, Nuria, MD, PhD

“…Abstract Fetal alcohol syndrome represents the classic and most severe manifestation of epigenetic changes induced by exposure to alcohol during pregnancy…”
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Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX by Fernández-Jaén, Alberto, Suela, Javier, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Wotton, Karl R., Dietrich, Susanne, Castellanos, Maria del Carmen, Cigudosa, Juan C., Calleja-Pérez, Beatriz, López-Martín, Sara

“…LBX1 plays a cardinal role in neuronal and muscular development in animal models. Its function in humans is unknown; it has been reported as a candidate gene…”
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Atomoxetine for Attention Deficit Hyperactivity Disorder in Mental Retardation by FERNANDEZ-JAEN, Alberto, FERNANDEZ-MAYORALAS, Daniel Martin, CALLEJA PEREZ, Beatriz, MUNOZ JARENO, Nuria, CAMPOS DIAZ, Maria Del Rosario

“…The study objective was to assess the efficacy and tolerability of atomoxetine in the treatment of attention deficit hyperactivity disorder symptoms in…”
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Fetal Alcohol Syndrome, Tourette Syndrome, and Hyperactivity in Nine Adopted Children by Fernández-Mayoralas, Daniel Martín, MD, PhD, Fernández-Jaén, Alberto, MD, Muñoz-Jareño, Nuria, MD, Calleja Pérez, Beatriz, MD, Arroyo-González, Rafael, MD, PhD

“…Much attention has been paid in recent years to the role of prenatal exposure to alcohol. Fetal alcohol syndrome is one of the most severe afflictions…”
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Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature by Fernández-Jaén, Alberto, MD, Fernández-Mayoralas, Daniel Martín, MD, Calleja-Pérez, Beatriz, MD, Muñoz-Jareño, Nuria, MD, Moreno, Noelia, MD

“…Gomez–Lopez-Hernandez syndrome, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and…”
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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism by Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A, Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto

“…Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study…”
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Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents by Párraga, Juan Luis, Calleja Pérez, Beatriz, López-Martín, Sara, Albert, Jacobo, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, López-Arribas, Sonia, Suárez-Guinea, Rebeca, Fernández-Jaén, Alberto

“…Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning,…”
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Mutations in BRAT1 Cause Autosomal Recessive Progressive Encephalopathy: Report of a Spanish Patient by Fernández-Jaén, Alberto, Dr, Álvarez, Sara, So, Eui Young, Ouchi, Toru, Jiménez de la Peña, Mar, Duat, Anna, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Albert, Jacobo, Calleja-Pérez, Beatriz

“…Abstract We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia…”
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An open-label, prospective study of levetiracetam in children and adolescentes with Tourette syndrome by Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Muñoz-Jareño, Nuria, Calleja-Pérez, Beatriz

“…Abstract Objectives To evaluate the usefulness of levetiracetam (LEV) for the treatment of tics in patients with Tourette syndrome (TS) by means of a…”
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Autism and attention deficit hyperactivity disorder: pharmacological intervention by Fernández-Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Muñoz-Jareño, Nuria, López-Arribas, Sonia

“…The cardinal symptoms of attention deficit hyperactivity disorder (ADHD)--inattention, hyperactivity and impulsiveness--are not specific and may be found in…”
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Meralgia Paresthetica in the Pediatric Population: A Propos of 2 Cases by Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Jareño, Nuria Muñoz, Pérez, Beatriz Calleja, Fernández, Pedro Moreno, Sola, Antonio Guerrero

“…Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and…”
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Genomic endophenotypes of attention deficit hyperactivity disorder by Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Muñoz-Jareño, Nuria, López-Arribas, Sonia

“…Attention deficit hyperactivity disorder (ADHD) is a remarkably heterogeneous neurobiological disorder. This characteristic is aetiologically mediated by…”
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Clinical and cognitive response to extended-release methylphenidate (Medikinet®) in attention deficit/hyperactivity disorder: Efficacy evaluation by Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Pardos, Alexandra, Calleja-Pérez, Beatriz, Muñoz Jareño, Nuria

“…Introduction The objective of the study was to assess the efficacy of extended-release methylphenidate (Mph-ER) (Medikinet®; MEDICE Arzneimittel Pütter GmbH &…”
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Neurodesarrollo y fenocopias del trastorno por déficit de atención/hiperactividad: diagnóstico diferencial by Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, Fernández Perrone, Ana Laura, Jiménez de Domingo, Ana, Albert Bitaubé, Jacobo, López Martín, Sara, Calleja Pérez, Beatriz, Tirado Requero, María Pilar, López Arribas, Sonia

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Neuroanatomía del trastorno por déficit de atención/hiperactividad: correlatos neuropsicológicos y clínicos by Albert Bitaubé, Jacobo, Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, López Martín, Sara, Fernández Perrone, Ana Laura, Calleja Pérez, Beatriz, Jiménez de la Peña, Mar, Recio Rodríguez, Manuel

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