Results 41 to 50 of about 21,721 (180)
Psychological variables trunks in the development of social skills: differential study in children and adolescents diagnosed with Turner syndrome [PDF]
, 2013 El Síndrome de Turner es un trastorno cromosómico, no heredable, determinado por la deleción total o parcial del cromosoma X en el sexo femenino. Las particularidades físicas y psicológicas de las mujeres con este diagnóstico pueden afectar la capacidad ...
Aguilar, María José +3 more
core
Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment [PDF]
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal.
ARNHOLD, Ivo J. P. +5 more
core +1 more source
TOUCHED BY DEEP TIME: Earthquake Sickness in Mexico City
Cultural Anthropology, Volume 40, Issue 3, Page 463-492, August 2025.ABSTRACT In Mexico City, earthquakes are so frightening that they make residents sick. Sometimes referred to as being tocado (touched), the illness might be considered part of the “culture‐bound syndrome” known as susto throughout the Spanish‐speaking Americas, where acute experiences of shock—such as being trapped in a shaking building—induce chronic ...
LACHLAN SUMMERS
wiley +1 more source
Estudio de un alumno con síndrome de Down en la comprensión del sistema de numeración decimal [PDF]
, 2012 Este trabajo presenta una evaluación de la comprensión del sistema de numeración decimal de un joven con síndrome de Down. Para ello, se utiliza un marco que consta de cuatro componentes (contar, agrupar, particionar y establecer relaciones numéricas) y ...
Bruno, Alicia, María Aurelia, Noda
core +2 more sources
Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION The Down syndrome‐associated Alzheimer's disease (DSAD) autosomal dominant Alzheimer's disease (ADAD) 2024 Conference in Barcelona, convened under an Alzheimer's Association International Society to Advance Alzheimer's Research and Treatment (ISTAART) grant through the Down syndrome and Alzheimer's disease (AD) Professional ...
Neus Falgàs +58 more
wiley +1 more source
Revista de la Facultad de Medicina, 1972 Se presentan 22 pacientes con cuadro clínico y cariológico de síndrome de Turner completamente estudiados. Se hace una revisión de la literatura y se discuten las hipótesis existentes sobre origen del problema cromosómico y su significación en los ...
Emilio Yunis T. +3 more
doaj
Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Alzheimer's disease (AD) dementia has near full penetrance in adults with Down syndrome (DS) and is strongly linked to late‐onset myoclonic epilepsy in Down syndrome (LOMEDS). However, promising biomarkers of epileptogenicity, such as high‐frequency oscillations (HFOs >250 Hz), have not been studied. This study is the first to use
Christos Panagiotis Lisgaras +6 more
wiley +1 more source
Food Risk Assess Europe, Volume 3, Issue 3, July 2025.Abstract The Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) has carried out an updated review of the scientific evidence on the influence of climate change on the transmission of foodborne pathogens. This global phenomenon represents an emerging threat to food safety and public health, since alterations in weather ...
Antonio Valero Díaz +6 more
wiley +1 more source
Development and validation of a novel Simoa assay for NPTX2 in Alzheimer's disease and Down syndrome
Alzheimer's &Dementia, Volume 21, Issue 6, June 2025.Abstract INTRODUCTION Synaptic dysfunction and loss are pathological hallmarks of neurodegenerative diseases. Neuronal pentraxin 2 (NPTX2), a presynaptic protein involved in synaptic plasticity, has been linked to cognitive decline in Alzheimer's disease (AD) and other neurodegenerative disorders.
Mathias Sauer +24 more
wiley +1 more source
Revista CEFAC, 2012 TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a ...
Suhamy Aline Mandelli +1 more
doaj