Search Results - "Fernández‐Perrone, Ana Laura"
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Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
Published in American journal of medical genetics. Part A (01-02-2024)“…Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic…”
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ANO3 and early-onset dyskinetic encephalopathy
Published in European journal of medical genetics (01-12-2020)“…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
Published in American journal of medical genetics. Part A (01-08-2014)“…Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first…”
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Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
Published in American journal of medical genetics. Part A (01-08-2014)“…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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The impact of ADHD on reading
Published in Medicina (01-04-2023)“…Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading disorder (dyslexia), the present review aims to examine the…”
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Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Published in Molecular syndromology (2022)“…Abstract Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little…”
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Expanding spectrum of electroclinical findings in patients with karyotype 47,XYY
Published in Brain & development (Tokyo. 1979) (01-05-2014)Get full text
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In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)
Published in Journal of child neurology (01-01-2014)“…The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular…”
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Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia
Published in Journal of child neurology (01-10-2014)“…Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result…”
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Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion
Published in Child's nervous system (01-12-2014)“…Case report We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor…”
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From inattentive-type attention deficit hyperactivity disorder to the restrictive type
Published in Revista de neurologiá (22-02-2013)“…Attention deficit hyperactivity disorder (ADHD) is a very heterogeneous neurobiological condition. It is the most common neurodevelopmental disorder in the…”
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Autism and attention deficit hyperactivity disorder: pharmacological intervention
Published in Revista de neurologiá (06-09-2013)“…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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Cortical thickness at the time of the initial attack in two patients with paediatric relapsing–remitting multiple sclerosis
Published in European journal of paediatric neurology (01-05-2014)“…Abstract Background Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system with a low incidence in the paediatric population;…”
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Hemiplegic migraine and arterial spin labelling sequence
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-04-2017)Get full text
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Neuroanatomía del trastorno por déficit de atención/hiperactividad: correlatos neuropsicológicos y clínicos
Published in Revista de neurologiá (16-07-2016)Get full text
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Cortical thinning of temporal pole and orbitofrontal cortex in medication-naïve children and adolescents with ADHD
Published in Psychiatry research. Neuroimaging (30-10-2014)“…Abstract Structural and functional brain studies on attention deficit/hyperactivity disorder (ADHD) have primarily examined anatomical abnormalities in the…”
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Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype
Published in Psychiatry research. Neuroimaging (30-09-2015)“…Abstract Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD)…”
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Autismo y trastorno por déficit de atención/hiperactividad: intervención farmacológica
Published in Revista de neurologiá (2013)Get full text
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Cingulate Cortical Thickness and Dopamine Transporter (DAT1) Genotype in Children and Adolescents With ADHD
Published in Journal of attention disorders (01-05-2018)“…Objective: This study aimed to examine the influence of dopamine transporter gene (DAT1) 3’UTR genotype on cingulate cortical thickness in a large sample of…”
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