Results 121 to 130 of about 206,873 (358)

Dilemmas in counselling females with the fragile X syndrome [PDF]

, 1999
The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less ...
Boer-van den Berg, H.M. van den, Niermeijer, M.F. (Martinus), Tibben, A. (Arend), Vries, B.B.A. (Bert) de   +3 more
core  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

A Systematic Review of the Safety and Tolerability of Theta Burst Stimulation in Children and Adolescents

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Theta burst stimulation (TBS) is often used in clinical practice and research protocols for adults with neuropsychiatric disorders. There are substantial knowledge gaps related to the application of TBS in children and adolescents.
Rana Elmaghraby, Qi Sun, Can Ozger, Julia Shekunov, Magdalena Romanowicz, Paul E. Croarkin   +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, Allison Buterbaugh, Kaitlin Love, Jeannie Visootsak   +3 more
doaj   +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

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Epilepsia Open, EarlyView.
Abstract Objective This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). Methods We recruited subjects with genetically confirmed typical RTT and CDD with
Aglaia Vignoli, Giulia Prato, Enrico Alfei, Irene Bagnasco, Alberto Danieli, Massimiliano Celario, Jacopo Favaro, Sara Matricardi, Francesca Felicia Operto, Alessandro Orsini, Davide Paolo Bernasconi, Nicola Pietrafusa, Emilia Ricci, Luca Manfredini, Giulia Balletto, Paolo Bonanni, Maria Paola Canevini, Valentina De Giorgis, Lino Nobili, Stefano Sartori, Miriam Nella Savini, Ilaria Viganò, Nicola Specchio   +22 more
wiley   +1 more source

Síndrome frágil X Fragile X Syndrome

Revista Cubana de Investigaciones Biomédicas, 2007
Se efectuó una revisión sobre el síndrome frágil X, del cual en Cuba no existían reportes desde el punto de vista poblacional, hasta la realización del estudio psicopedagógico, social y clínico genético de las personas con retraso mental; mediante el ...
doaj  

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, Mohammad Reza Abbaszadegan, Nosrat Ghaemi   +2 more
doaj  

Pathogenic Escherichia coli Virulome in Top Soil Improvers and Irrigation Waters Devoted to Leafy Vegetable Production: Hazard Assessment From a Case Study in Italy

Food Safety and Health, EarlyView.
Escherichia coli pathotype virulotyping to assess if combined top soil improver and water inputs would potentially lead to hybrid strains with shuffled virulence features in ready‐to‐eat vegetables. This is to support the transition toward safe and sustainable food production systems.
Giorgia Barbieri, Federica Gigliucci, Sofia Palma, Fabio Minelli, Paola Chiani, Manuela Marra, Maria Carollo, Arnold Knijn, Gianfranco Brambilla, Stefano Morabito   +9 more
wiley   +1 more source