Results 81 to 90 of about 7,289,232 (294)
Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care
Epilepsia Open, EarlyView.Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley +5 more
wiley +1 more source
A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome
Case Reports in Genetics, 2013 Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle,
Tovi Anderson +3 more
doaj +1 more source
Special issue: Fragile X syndrome
, 2017 In this issue of Science Signaling , three papers uncover molecular mechanisms of neurological dysfunction in animal models of fragile X syndrome.
Leslie K. Ferrarelli
core +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Pregnancy‐ and lactation‐associated osteoporosis (PLO) is a syndrome characterized by fragility fractures (most commonly vertebral, often multiple) occurring in late pregnancy or the early postpartum period. This position statement summarizes the current knowledge of PLO, and the recommended procedure for assessment, diagnosis and treatment ...
Peyman Hadji +20 more
wiley +1 more source
Fragile X Syndrome: Steps towards Therapy [PDF]
, 2013 In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
core +1 more source
A Case Report of Fragile X Syndrome with Fingers Anomaly
پزشکی بالینی ابن سینا, 2003 Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3.
Farah Ashrafzadeh +2 more
doaj
Vaccinations in pregnancy: An update for a changing time
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Maternal immunization is one of the most effective public health interventions to reduce infectious morbidity and mortality in pregnant women, fetuses, and newborns. Despite robust evidence supporting vaccine safety and effectiveness in pregnancy, global uptake has declined following the COVID‐19 pandemic, contributing to resurgent outbreaks ...
Wendy Hodge +11 more
wiley +1 more source
Cerebellar Vermis Hypoplasia in Fragile X Syndrome
Pediatric Neurology Briefs, 1998 Investigators at the Kennedy Krieger Institute, Johns Hopkins University School of Medicine, have compared posterior vermis size (cross-sectional area) measured by MRI in 32 males with fragile X syndrome (fra X), 28 males with other causes of cognitive ...
J Gordon Millichap
doaj +1 more source
Epilepsy in fragile X syndrome [PDF]
Developmental Medicine & Child Neurology, 2002 Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 ...
openaire +2 more sources
New connections: Treating fragile X syndrome
, 2017 An in vivo drug screen can identify inhibitors of the signaling pathway that is activated in fragile X syndrome.
Leslie K. Ferrarelli
core +1 more source