Concept

Syndrome de Williams

Publications associées (11)

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

Djalel Eddine Meskaldji, Laura Ioana Gui, Serafeim Loukas

ObjectivePrematurity is associated with a high risk of long-term behavioral problems. This study aimed to assess the prognostic utility of volumetric brain data at term-equivalent-age (TEA), clinical perinatal factors, and parental social economic risk in ...

WILEY2023

eNAMPT actions through nucleus accumbens NAD + /SIRT1 link increased adiposity with sociability deficits programmed by peripuberty stress

Johan Auwerx, Maria del Carmen Sandi Perez, Jocelin Grosse, Olivia Zanoletti, Simone Astori, João Pedro de Matos Rodrigues, Ioannis Zalachoras, Wei Huang, Sriparna Ghosal, Laia Morato Fornaguera, Lei Cao

Obesity is frequently associated with impairments in the social domain, and stress at puberty can lead to long-lasting changes in visceral fat deposition and in social behaviors. However, whether stress-induced changes in adipose tissue can affect fat-to-b ...

2022

Neural Compensation Mechanisms of Siblings of Schizophrenia Patients as Revealed by High-Density EEG

Michael Herzog, Maya Roinishvili, Ophélie Gladys Favrod, Patricia Figueiredo, Albulena Jashari-Shaqiri

Visual backward masking (VBM) deficits are candidate endophenotypes of schizophrenia indexing genetic liability of the disorder. In VBM, a target is followed by a mask that deteriorates target perception. Schizophrenia patients and, to a lesser extent, the ...

2020

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

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The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce in ...

Springer Verlag2014

The obvious symptoms of schizophrenia are of cognitive and psychopathological nature. However, schizophrenia affects also visual processing which becomes particularly evident when stimuli are presented for short durations and are followed by a masking stim ...

Frontiers Research Foundation2013

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The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution. In the present study, we evaluated whether ...

World Muscular Society / Elsevier2009

Velo-cardio-facial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a common genetic condition associated with increased risk for developing schizophrenia. Given that cortical malformations play an integral role in the pattern of neuroanatomica ...

2006

PURPOSE: The syndrome of unawareness (anosognosia) for sensory and motor neurological deficits (hemiplegia, hemianaesthesia, and hemianopia), contralateral to the side of a hemispheric lesion, is reviewed. CONTENT: Main topics include: basic historical fac ...

IOS Press2006

We present a patient with pharmacoresistant right temporal lobe epilepsy who showed a significant increase in focal interictal spikes in response to specific visuospatial tasks, Temporal spiking was particularly increased during immediate recall of visuosp ...

Taylor & Francis1999

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