Πέμπτη 25 Ιουνίου 2020


Stimulus valence influences the evaluative processing of action outcome
The aim of the current study is to reveal the influence of prior associations between feedback stimuli and outcomes, in everyday life, on the early and late evaluative processing of outcomes. Participants were subjected to a simple gambling task while their electroencephalograms were recorded. Over two conditions, participants received congruent and incongruent feedback stimuli during the task. Feedback stimuli previously associated with positive outcomes were paired with monetary gain in the congruent...
NeuroReport - Published Ahead-of-Print
Mon Jun 22, 2020 03:00
The extended evolutionary synthesis and human origins: Archaeological perspectives
Abstract Recent developments in evolutionary biology have led to a call for an extension of standard evolutionary theory, with its emphasis on processes such as selection and drift, into a much larger theoretical framework that includes processes such as niche construction, developmental plasticity, inclusive inheritance, and developmental bias. Skeptics argue that these processes are already subsumed within the standard theory and thus an extension is not required. Here, we outline what this evolutionary...
Wiley: Evolutionary Anthropology: Issues, News, and Reviews: Table of Contents
Tue Jun 23, 2020 22:20
The dark side of COVID‐19: The need of integrated medicine for children with special care needs
American Journal of Medical Genetics Part A
Wed Jun 24, 2020 12:10
Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?
Abstract Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome, caused by alterations in a cluster of imprinted genes located within the chromosome region 11p15.5. Common clinical features are overgrowth, macroglossia, lateralized overgrowth, abdominal wall defects, neonatal hypoglycemia and an increased risk of embryonal tumors, such as hepatoblastomas. Periodic screening for abdominal tumors is recommended. Vascular tumors are uncommon in BWS. Diffuse infantile hepatic hemangiomas (DIHHs)...
American Journal of Medical Genetics Part A
Tue Jun 23, 2020 22:56
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
Abstract Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding...
American Journal of Medical Genetics Part A
Tue Jun 23, 2020 11:20
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia
Abstract Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our...
American Journal of Medical Genetics Part A
Tue Jun 23, 2020 11:20
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations
Abstract The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3 ) gene has a primary function in https://www-sciencedirect-com.opbg.clas.cineca.it/topics/medicine-and-dentistry/neurogenesisnervous system development and axon generation and maintenance, due to its neuron‐specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene...
American Journal of Medical Genetics Part A
Tue Jun 23, 2020 11:19
Confirming TBC1D32‐related ciliopathy in humans
American Journal of Medical Genetics Part A
Tue Jun 23, 2020 11:05

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