Results 31 to 40 of about 6,083,486 (156)

Fragile X syndrome: Current insight

Egyptian Journal of Medical Human Genetics, 2016
Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families. It is the most common type of intellectual disability after Down’s syndrome. Over two decades have passed since
Deepika Delsa Dean, Srinivasn Muthuswamy, Sarita Agarwal   +2 more
doaj   +1 more source

Fragile X Mutations and Epilepsy

Pediatric Neurology Briefs, 1997
A posiible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene (FMR) was investigated in the Neuropediatric Department, Behandlungszentrum Vogtareuth; and Laboratory of Genetic Diagnostics, Munchen, Germany.
J Gordon Millichap
doaj   +1 more source

Developmental studies in fragile X syndrome

Journal of Neurodevelopmental Disorders, 2020
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak, Kelli C. Dominick, Craig A. Erickson   +2 more
doaj   +1 more source

Long-term safety and tolerability of transdermal cannabidiol gel in children and adolescents with Fragile X syndrome (ZYN2-CL-017): an interim analysis of an ongoing open-label extension study

Journal of Neurodevelopmental Disorders
Background Dysregulated endocannabinoid signaling is involved in Fragile X syndrome (FXS), suggesting a potential role for the endocannabinoid signaling modulator, cannabidiol, in treatment.
Elizabeth Berry-Kravis, Randi Hagerman, Jonathan Cohen, Dejan Budimirovic, Caroline B. Buchanan, Natalie Silove, Nancy Tich, Anthony Thibodeau, Thomas Dobbins, Terri Sebree, Stephen O’Quinn, David S. Albers, Kristen G. Bzdek, George Nomikos, Kumar Budur   +14 more
doaj   +1 more source

Diagnosis of Fragile X Syndrome

Pediatric Neurology Briefs, 1991
Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and ...
J Gordon Millichap
doaj   +1 more source

Langage et communication dans le syndrome du X-Fragile [PDF]

, 2018
Le Syndrome du X-Fragile (SFX) renvoie à une famille de problèmes médicaux et développementaux liés à une réplication de la portion Xq27.3 du chromosome X.
Comblain, Annick
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Fragile X spectrum disorders [PDF]

, 2014
The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles ...
Lozano, Reymundo, Hagerman, Randi J, Rosero, Carolina Alba   +2 more
core   +1 more source

Epilepsy and Fragile X Syndrome

Pediatric Neurology Briefs, 2003
The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL.
J Gordon Millichap
doaj   +1 more source

Biomechanical characterization of gait in children with Fragile X syndrome: role of ligamentous laxity and flat foot deformity

, 2022
reservedIl presente lavoro di tesi si svolge all’interno di una collaborazione tra il Centro X Fragile del Dipartimento di Salute della Donna e del Bambino di Padova, il Dipartimento di Ingegneria dell’Informazione e quello di Medicina dell’Universita ...
MORO, LUCA
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Pertinence d'une intervention phonique sur le développement des prérequis à la lecture d'adultes porteurs du syndrome du X-Fragile [PDF]

, 2023
Le syndrome du X-fragile (SXF) se caractérise par un trouble du développement intellectuel (TDI) impactant notamment les apprentissages scolaires. Beaucoup de personnes arrivent à l'âge adulte en n'ayant pas acquis les savoir-faire de base de la lecture ...
Comblain, Annick, Vanuxem, Justine
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