Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Fragile_X_syndrome> ?p ?o }
- Fragile_X_syndrome abstract "Fragile X syndrome (FXS), also known as Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes (macroorchidism), and behavioral characteristics such as stereotypic movements (e.g. hand-flapping), and social anxiety.Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal (unaffected by the syndrome), a premutation (at risk of fragile X associated disorders), or full mutation (usually affected by the syndrome). A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counseling. The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.There is currently no drug treatment that has shown benefit specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of attention deficit and hyperactivity, anxiety, and aggression. Supportive management is important in optimizing functioning in individuals with fragile X syndrome, and may involve speech therapy, occupational therapy, and individualized educational and behavioral programs.".
- Fragile_X_syndrome icd10 "Q99.2".
- Fragile_X_syndrome icd9 "759.83".
- Fragile_X_syndrome meshId "D005600".
- Fragile_X_syndrome omim "300624".
- Fragile_X_syndrome thumbnail Fragx-2.jpg?width=300.
- Fragile_X_syndrome wikiPageExternalLink fragilex.htm.
- Fragile_X_syndrome wikiPageExternalLink www.fragilex.org.
- Fragile_X_syndrome wikiPageExternalLink www.fragilex.org.au.
- Fragile_X_syndrome wikiPageExternalLink www.fragilex.org.uk.
- Fragile_X_syndrome wikiPageExternalLink www.fraxa.org.
- Fragile_X_syndrome wikiPageExternalLink br.fcgi?book=gene&part=fragilex.
- Fragile_X_syndrome wikiPageExternalLink fragilex.
- Fragile_X_syndrome wikiPageID "53142".
- Fragile_X_syndrome wikiPageLength "45195".
- Fragile_X_syndrome wikiPageOutDegree "132".
- Fragile_X_syndrome wikiPageRevisionID "683600854".
- Fragile_X_syndrome wikiPageWikiLink ADHD.
- Fragile_X_syndrome wikiPageWikiLink Allele.
- Fragile_X_syndrome wikiPageWikiLink Amblyopia.
- Fragile_X_syndrome wikiPageWikiLink Amniocentesis.
- Fragile_X_syndrome wikiPageWikiLink Animal_model.
- Fragile_X_syndrome wikiPageWikiLink Anticipation_(genetics).
- Fragile_X_syndrome wikiPageWikiLink Anticonvulsant.
- Fragile_X_syndrome wikiPageWikiLink Anticonvulsants.
- Fragile_X_syndrome wikiPageWikiLink Anxiety_disorder.
- Fragile_X_syndrome wikiPageWikiLink Ataxia.
- Fragile_X_syndrome wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
- Fragile_X_syndrome wikiPageWikiLink Atypical_antipsychotic.
- Fragile_X_syndrome wikiPageWikiLink Atypical_antipsychotics.
- Fragile_X_syndrome wikiPageWikiLink Autism.
- Fragile_X_syndrome wikiPageWikiLink Autism_spectrum.
- Fragile_X_syndrome wikiPageWikiLink Autism_spectrum_disorder.
- Fragile_X_syndrome wikiPageWikiLink Behavioral_therapy.
- Fragile_X_syndrome wikiPageWikiLink Behaviour_therapy.
- Fragile_X_syndrome wikiPageWikiLink Category:Autism.
- Fragile_X_syndrome wikiPageWikiLink Category:Intellectual_disability.
- Fragile_X_syndrome wikiPageWikiLink Category:Neurogenetic_disorders.
- Fragile_X_syndrome wikiPageWikiLink Category:Pediatrics.
- Fragile_X_syndrome wikiPageWikiLink Category:Syndromes.
- Fragile_X_syndrome wikiPageWikiLink Category:Trinucleotide_repeat_disorders.
- Fragile_X_syndrome wikiPageWikiLink Category:X-linked_dominant_disorders.
- Fragile_X_syndrome wikiPageWikiLink Chorionic_villus_sampling.
- Fragile_X_syndrome wikiPageWikiLink Chromosomal_fragile_site.
- Fragile_X_syndrome wikiPageWikiLink Cluttered_speech.
- Fragile_X_syndrome wikiPageWikiLink Cluttering.
- Fragile_X_syndrome wikiPageWikiLink Codon.
- Fragile_X_syndrome wikiPageWikiLink Cytogenetic.
- Fragile_X_syndrome wikiPageWikiLink Cytogenetics.
- Fragile_X_syndrome wikiPageWikiLink Deletion_(genetics).
- Fragile_X_syndrome wikiPageWikiLink Dementia.
- Fragile_X_syndrome wikiPageWikiLink Dendrite.
- Fragile_X_syndrome wikiPageWikiLink Dendrites.
- Fragile_X_syndrome wikiPageWikiLink Dendritic_spine.
- Fragile_X_syndrome wikiPageWikiLink Dendritic_spines.
- Fragile_X_syndrome wikiPageWikiLink Dipraglurant.
- Fragile_X_syndrome wikiPageWikiLink Dopamine.
- Fragile_X_syndrome wikiPageWikiLink Epileptic_seizure.
- Fragile_X_syndrome wikiPageWikiLink Executive_function.
- Fragile_X_syndrome wikiPageWikiLink Executive_functions.
- Fragile_X_syndrome wikiPageWikiLink Extrapyramidal_symptoms.
- Fragile_X_syndrome wikiPageWikiLink FMR1.
- Fragile_X_syndrome wikiPageWikiLink FMRP.
- Fragile_X_syndrome wikiPageWikiLink FXTAS.
- Fragile_X_syndrome wikiPageWikiLink Female.
- Fragile_X_syndrome wikiPageWikiLink Fenobam.
- Fragile_X_syndrome wikiPageWikiLink Fight-or-flight_response.
- Fragile_X_syndrome wikiPageWikiLink Five_prime_untranslated_region.
- Fragile_X_syndrome wikiPageWikiLink Flat_feet.
- Fragile_X_syndrome wikiPageWikiLink ataxia_syndrome.
- Fragile_X_syndrome wikiPageWikiLink Fragile_site.
- Fragile_X_syndrome wikiPageWikiLink GABA.
- Fragile_X_syndrome wikiPageWikiLink Gamma-Aminobutyric_acid.
- Fragile_X_syndrome wikiPageWikiLink Gene.
- Fragile_X_syndrome wikiPageWikiLink Genetic_anticipation.
- Fragile_X_syndrome wikiPageWikiLink Genetic_code.
- Fragile_X_syndrome wikiPageWikiLink Genetic_counseling.
- Fragile_X_syndrome wikiPageWikiLink Genetic_disorder.
- Fragile_X_syndrome wikiPageWikiLink Hyperactivity.
- Fragile_X_syndrome wikiPageWikiLink Hyperarousal.
- Fragile_X_syndrome wikiPageWikiLink Hypotonia.
- Fragile_X_syndrome wikiPageWikiLink Intellectual_disability.
- Fragile_X_syndrome wikiPageWikiLink Intelligence_quotient.
- Fragile_X_syndrome wikiPageWikiLink Intrapersonal_communication.
- Fragile_X_syndrome wikiPageWikiLink Julia_Bell.
- Fragile_X_syndrome wikiPageWikiLink Learning_disabilities.
- Fragile_X_syndrome wikiPageWikiLink Learning_disability.
- Fragile_X_syndrome wikiPageWikiLink Long-term_depression.
- Fragile_X_syndrome wikiPageWikiLink Long-term_potentiation.
- Fragile_X_syndrome wikiPageWikiLink Long_term_depression.
- Fragile_X_syndrome wikiPageWikiLink Long_term_potentiation.
- Fragile_X_syndrome wikiPageWikiLink Low_muscle_tone.
- Fragile_X_syndrome wikiPageWikiLink MRNA.
- Fragile_X_syndrome wikiPageWikiLink Macroorchidism.
- Fragile_X_syndrome wikiPageWikiLink Male.
- Fragile_X_syndrome wikiPageWikiLink Mavoglurant.
- Fragile_X_syndrome wikiPageWikiLink Medical_genetics.
- Fragile_X_syndrome wikiPageWikiLink Meiosis.
- Fragile_X_syndrome wikiPageWikiLink Menopause.
- Fragile_X_syndrome wikiPageWikiLink Messenger_RNA.