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Direct linkCopet, P.; Jauregi, J.; Laurier, V.; Ehlinger, V.; Arnaud, C.; Cobo, A. -M.; Molinas, C.; Tauber, M.; Thuilleaux, D. – Journal of Intellectual Disability Research, 2010
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of…
Descriptors: Genetic Disorders, Intelligence, Body Composition, Mental Retardation
Kover, S. T.; Abbeduto, L. – Journal of Intellectual Disability Research, 2010
Background: Approximately one-quarter of individuals with fragile X syndrome (FXS) meet diagnostic criteria for autism; however, it is unclear whether individuals with comorbid FXS and autism are simply more severely affected than their peers with only FXS or whether they have qualitatively different profiles of behavioural impairments. To address…
Descriptors: Genetic Disorders, Symptoms (Individual Disorders), Comparative Analysis, Males
Gothelf, Doron; Schaer, Marie; Eliez, Stephan – Developmental Disabilities Research Reviews, 2008
Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia-like psychotic disorder. In this review, we…
Descriptors: Schizophrenia, Risk, Neurology, Young Adults
Cotanche, Douglas A. – Journal of Communication Disorders, 2008
Twenty years ago it was first demonstrated that birds could regenerate their cochlear hair cells following noise damage or aminoglycoside treatment. An understanding of how this structural and functional regeneration occurred might lead to the development of therapies for treatment of sensorineural hearing loss in humans. Recent experiments have…
Descriptors: Hearing Impairments, Genetics, Anatomy, Intervention
Ladouceur, Cecile D.; Almeida, Jorge R. C.; Birmaher, Boris; Axelson, David A.; Nau, Sharon; Kalas, Catherine; Monk, Kelly; Kupfer, David J.; Phillips, Mary L. – Journal of the American Academy of Child & Adolescent Psychiatry, 2008
A study is conducted to examine the extent to which bipolar disorder (BD) is associated with gray matter volume abnormalities in brain regions in healthy bipolar offspring relative to age-matched controls. Results show increased gray matter volume in the parahippocampus/hippocampus in healthy offspring at genetic risk for BD.
Descriptors: Language Impairments, Neurology, Brain, Mental Disorders
Shmaefsky, Brian – Journal of College Science Teaching, 2008
Visual demonstrations of abstract scientific concepts are effective strategies for enhancing content retention (Shmaefsky 2004). The concepts associated with gene regulation of growth and development are particularly complex and are well suited for teaching with visual models. This demonstration provides a simple and accurate model of Hox gene…
Descriptors: Science Instruction, Scientific Concepts, Thinking Skills, Genetics
Mercuri, Eugenio; Messina, Sonia; Pane, Marika; Bertini, Enrico – Developmental Medicine & Child Neurology, 2008
Several clinical trials assessing children with hereditary neuromuscular disorders have been performed over the last decade. These studies highlighted issues related to design and performance of clinical studies assessing children with this group of disorders. This article reviews recent literature and clinical experience in this area,…
Descriptors: Genetic Disorders, Neurological Impairments, Children, Medical Research
Kohli, Utkarsh; Arora, Sadhna; Kabra, Madhulika; Ramakrishnan, Lakshmy; Gulati, Sheffali; Pandey, Ravindra – Down Syndrome Research and Practice, 2008
Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study…
Descriptors: Foreign Countries, Mothers, Incidence, Down Syndrome
Dimitropoulos, Anastasia; Schultz, Robert T. – Journal of Autism and Developmental Disorders, 2008
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hyperphagia and food preoccupations. Although dysfunction of the hypothalamus likely has a critical role in hyperphagia, it is only one of several regions involved in the regulation of eating. The purpose of this research was to examine food-related neural circuitry…
Descriptors: Food, Genetic Disorders, Neurological Impairments, Neurological Organization
Walsh, Joseph A. – American Biology Teacher, 2008
"Nothing in biology makes sense except in the light of evolution." This was the title of an essay by geneticist Theodosius Dobzhansky writing in 1973. Many causes have been given for the increased Cesarean section rate in developed countries, but biologic evolution has not been one of them. The C-section rate will continue to rise, because the…
Descriptors: Evolution, Birth, Surgery, Genetics
Mervis, Carolyn B.; John, Angela E. – Journal of Speech, Language, and Hearing Research, 2008
Purpose: This project was designed to identify relative strengths and weaknesses in vocabulary ability for children with Williams syndrome (WS) and to demonstrate the importance of stringent matching criteria for cross-group comparisons. Method: Children with WS and typically developing (TD) children completed standardized assessments of…
Descriptors: Vocabulary Skills, Genetic Disorders, Children, Spatial Ability
Markham, Chris M.; Huhman, Kim L. – Learning & Memory, 2008
Conditioned defeat is a model wherein hamsters that have previously experienced a single social defeat subsequently exhibit heightened levels of avoidance and submission in response to a smaller, non-aggressive intruder. While we have previously demonstrated the critical involvement of the basolateral and central nuclei of the amygdala in the…
Descriptors: Animals, Testing, Genetics, Conditioning
Belmonte, Matthew K.; Mazziotta, John C.; Minshew, Nancy J.; Evans, Alan C.; Courchesne, Eric; Dager, Stephen R.; Bookheimer, Susan Y.; Aylward, Elizabeth H.; Amaral, David G.; Cantor, Rita M.; Chugani, Diane C.; Dale, Anders M.; Davatzikos, Christos; Gerig, Guido; Herbert, Martha R.; Lainhart, Janet E.; Murphy, Declan G.; Piven, Joseph; Reiss, Allan L.; Schultz, Robert T.; Zeffiro, Thomas A.; Levi-Pearl, Susan; Lajonchere, Clara; Colamarino, Sophia A. – Journal of Autism and Developmental Disorders, 2008
Data sharing in autism neuroimaging presents scientific, technical, and social obstacles. We outline the desiderata for a data-sharing scheme that combines imaging with other measures of phenotype and with genetics, defines requirements for comparability of derived data and recommendations for raw data, outlines a core protocol including…
Descriptors: Autism, Genetics, Measurement Techniques, Data Analysis
Farran, Emily K.; Cole, Victoria L. – Brain and Cognition, 2008
Perceptual grouping is a pre-attentive process which serves to group local elements into global wholes, based on shared properties. One effect of perceptual grouping is to distort the ability to estimate the distance between two elements. In this study, biases in distance estimates, caused by four types of perceptual grouping, were measured across…
Descriptors: Perception, Classification, Genetic Disorders, Mental Retardation
Condit, Celeste M. – Quarterly Journal of Speech, 2008
Prevailing idealist and materialist theories of rhetoric fail to account for the continual circulation and recirculation of "racism" as a scientific discourse. An alternative theory of modal materialism addresses this problem by suggesting that the properties of all being are constituted through three distinguishable forms of matter that include…
Descriptors: Genetics, Rhetorical Theory, Ethics, Racial Bias
