Results 41 to 50 of about 6,083,486 (156)
Journal of Neurodevelopmental DisordersBackground 22q11.2 deletion syndrome (22qDS) is a genetic disorder affecting various body systems and associated with behavioral and psychiatric conditions, with no currently approved pharmacological treatments.
Helen Heussler +4 more
doaj +1 more source
Screening for fragile X syndrome.
Health Technology Assessment, 1997 : BACKGROUND AND AIM OF REVIEW. In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood.
Murray, Cuckle, Taylor, Hewison
doaj +1 more source
Genetic/Environmental Influences in Fragile X Disease
Pediatric Neurology Briefs, 2002 The genetic and environmental factors influencing cognitive outcomes in 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings were determined by in-home evaluations and reported from the Departments of ...
J Gordon Millichap
doaj +1 more source
Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]
, 2008 Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core
Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
doaj
Modeling Fragile X Syndrome in Drosophila
Frontiers in Molecular Neuroscience, 2018 Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd +5 more
doaj +1 more source
Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]
, 2012 TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core
Astrocytes in fragile X syndrome
Frontiers in Cellular NeuroscienceAstrocytes have an important role in neuronal maturation and synapse function in the brain. The interplay between astrocytes and neurons is found to be altered in many neurodevelopmental disorders, including fragile X syndrome (FXS) that is the most ...
Karo Talvio, Maija L. Castrén
doaj +1 more source
Molecular Biomarkers in Fragile X Syndrome
Brain Sciences, 2019 Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD).
Marwa Zafarullah, Flora Tassone
doaj +1 more source