Results 101 to 110 of about 206,873 (358)
Finding the GEMSS in Schools. [PDF]
, 2014 Are you the parent of a child who has a genetic condition such as Down syndrome, Fragile X, or Marfan syndrome? Have you searched for a base of knowledge that is comprehensive and reliable?
Dillon, Ann
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Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons [PDF]
Fragile X syndrome is a genetic neurodevelopmental disorder caused by a mutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene in the X chromosome.
Dufour, Brett +3 more
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Emerging role of the KCNT1 Slack channel in intellectual disability [PDF]
, 2014 The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa.
Grace E. Kim, Leonard K. Kaczmarek
core +2 more sources
The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta‐Analysis
Autism Research, EarlyView.ABSTRACT Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO.
Renee van der Schaaf +5 more
wiley +1 more source
Arbaclofen in fragile X syndrome: results of phase 3 trials
Journal of Neurodevelopmental Disorders, 2017 BackgroundArbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study.
E. Berry-Kravis +10 more
semanticscholar +1 more source
Fragile X mental retardation protein controls ion channel expression and activity [PDF]
, 2016 Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP).
Ferron, L
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Autism Research, EarlyView.ABSTRACT The aim of this study was to compare the healthcare trajectories (HCTs) 2 years after a first diagnosis of autism according to sex, age at diagnosis, and intellectual or developmental disabilities (IDD) status. This is a retrospective cohort study using health administrative data from Québec, Canada.
Mélanie Couture +9 more
wiley +1 more source
SAGE Open MedicineBackground: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full
Dragana Protic +22 more
doaj +1 more source
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
The molecular biology of FMRP: new insights into fragile X syndrome
Nature Reviews Neuroscience, 2021 J. Richter, Xinyu Zhao
semanticscholar +1 more source