Beatriz Calleja-Perez
Overview
Explore the profile of Beatriz Calleja-Perez including associated specialties, affiliations and a list of published articles.
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Articles
35
Citations
163
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Recent Articles
1.
Albert J, Lopez-Martin S, Sanchez-Carmona A, Calleja-Perez B, Fernandez-Perrone A, Munoz-Jareno N, et al.
Medicina (B Aires)
. 2025 Feb;
85 Suppl 1:30-35.
PMID: 40020090
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention and/or hyperactivity/impulsivity, which is associated with various neuropsychological deficits. These deficits are thought to mediate the relationship between etiological factors...
2.
de la Pena M, Lopez-Martin S, Fernandez-Mayoralas D, Fernandez-Perrone A, Jimenez de Domingo A, Tirado P, et al.
Mol Genet Genomic Med
. 2025 Jan;
13(2):e70070.
PMID: 39865383
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures. Methods And Results: Trio-based...
3.
Lopez-Martin S, Albert J, Calleja-Perez B, Fernandez-Mayoralas D, Fernandez-Perrone A, Jimenez de Domingo A, et al.
Medicina (B Aires)
. 2024 Feb;
84 Suppl 1:26-30.
PMID: 38350621
Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disorder from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a prominent role of genetic factors. Population...
4.
de la Pena M, Rincon-Perez I, Lopez-Martin S, Albert J, Fernandez-Mayoralas D, Fernandez-Perrone A, et al.
Am J Med Genet A
. 2023 Oct;
194(2):211-217.
PMID: 37795572
Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A...
5.
Sanchez-Carmona A, Albert J, Lopez-Martin S, Calleja-Perez B, Fernandez-Mayoralas D, Jimenez de Domingo A, et al.
Medicina (B Aires)
. 2023 Feb;
83 Suppl 2:22-26.
PMID: 36820478
Beyond the frequent coexistence of attention deficit hyperactivity disorder (ADHD) and reading disorder (dyslexia), the present review aims to examine the available empirical evidence on how ADHD negatively impacts on...
6.
Paganoni A, Amoruso F, Porta Pelayo J, Calleja-Perez B, Vezzoli V, Duminuco P, et al.
Int J Mol Sci
. 2022 May;
23(10).
PMID: 35628442
Intellectual disability (ID) is a neurological disorder arising from early neurodevelopmental defects. The underlying genetic and molecular mechanisms are complex, but are thought to involve, among others, alterations in genes...
7.
Fernandez-Mayoralas D, Albert J, Lopez-Martin S, de la Pena M, Fernandez-Perrone A, Jimenez de Domingo A, et al.
Mol Syndromol
. 2022 Apr;
13(2):165-170.
PMID: 35418825
Bi-allelic mutations in the gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a...
8.
Irene Diez Garcia-Prieto I, Lopez-Martin S, Albert J, de la Pena M, Fernandez-Mayoralas D, Calleja-Perez B, et al.
Neurocase
. 2022 Mar;
28(1):11-18.
PMID: 35253627
. gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel ...
9.
Albert J, Sanchez-Carmona A, Lopez-Martin S, Calleja-Perez B, Fernandez-Mayoralas D, Jimenez de Domingo A, et al.
Medicina (B Aires)
. 2022 Feb;
82 Suppl 1:23-27.
PMID: 35171803
This study aims to contribute to a better understanding of attention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder...
10.
Young N, Asif M, Jackson M, Fernandez-Mayoralas D, de la Pena M, Calleja-Perez B, et al.
Genes (Basel)
. 2021 Sep;
12(9).
PMID: 34573277
Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study aimed to expand ASD genotyping by investigating potential associations...