fragile-x
Systematic review of pharmacological treatments in fragile X syndrome
... "fragile X AND treatment" text words and the following limits: "Humans, Clinical Trial, Meta-Analysis, Practice Guideline, Randomized Controlled Trial, Review", with- out language ...
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EXPLAIN Fragile X: an explorative, longitudinal study on the characterization, treatment pathways, and patient related outcomes of Fragile X Syndrome
... Fragile X syndrome (FXS) is a trinucleotide repeat dis- order caused by a CGG repeat expansion in the FMR1 gene on the X chromosome (> 200 repeats in the full mu- tation, compared with 6–54 ...
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Health Supervision for Children With Fragile X Syndrome
... with fragile X syndrome; mean testicular volume is approximately 50 mL (normal mean testicular volume: ⬍ 25 ...boys. Fragile X syndrome also has a connective tissue dysplasia, and findings may ...
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Genomic studies in fragile X premutation carriers
... FMR1: Fragile X mental retardation 1 gene; ADAM8: A disintegrin and metalloproteinase 8 gene; ADHD: Attention deficit hyperactivity disorder; ADI-R: Autism Diagnostic Interview-Revised; ADOS: Autism ...
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Fragile X and company: Finding the right diagnosis
... Fragile X syndrome (FXS) is a com- mon cause of inherited mental retar- dation in ...the X chromosome that is inherited from the ...of fragile X ...normal X chromo- ...as ...
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Testicular Torsion in an Adolescent With Fragile X Syndrome
... of fragile X mosaicism with moderate mental retardation (Wechsler Intelligence Scale for Chil- dren-III Full Scale IQ 48) and bilateral macroorchidism presented with 48 hours of mild, vague left groin and ...
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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)
... While it is possible that spontaneous CGG repeat ex- pansion to the pre- and full mutation range does occur in NHP populations, screening would be expensive and unlikely to yield sufficient animal numbers for meaning- ...
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Proposed Mechanism of Inheritance and Expression of the Human Fragile-X Syndrome of Mental Retardation
... These components provide explanations for many perplexing features of inheritance and expression of the fragile-X syndrome: (i) transmitting males have inherited a fragile[r] ...
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Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X
... tional Fragile X Foundation (NFXF) Web site, and consultation with Fragile X Clinical and Research Consortium (FXCRC) specialists can provide pedia- tricians and genetic counselors with ...
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Fragile X targeted pharmacotherapy: lessons learned and future directions
... the Fragile X Syndrome Rating Scale (FXSRS) used in the trofinetide trial, becomes a milestone in the process of creating better instruments for intervention studies in ...
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Advances in the Treatment of Fragile X Syndrome
... in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other devel- opmental ...with fragile X full mutation and ...
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Targeted treatments for fragile X syndrome
... Additional complex changes in molecular events at the synapse occur in the absence of FMRP, in many cases because of increased basal activity of proteins representing FMRP target proteins, lack of appropriate sensitivity ...
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Modulation of the GABAergic pathway for the treatment of fragile X syndrome
... Abstract: Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of ...the fragile X mental retardation gene (FMR1) and lack ...
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Vocabulary comprehension in adults with fragile X syndrome (FXS)
... of fragile X syndrome by DNA analysis; (3) intellectual disability with measured IQ between 20 and 85; (4) normal hearing sensitivity and nor- mal visual acuity (with best correction); (5) stable medica- ...
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Epigenetic mechanism of FMR1 inactivation in Fragile X syndrome
... best carried out by electrofusion rather than the microcell fusion technique employed for OTF9 cells. Resulting colonies initially grow with a stem-cell morphology, but after about 2 weeks in culture, they appear to ...
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Fragile X mental retardation protein and synaptic plasticity
... of Fragile X syndrome. The FMR1 gene is silenced in Fragile X (FX), and the consequent loss of FMRP leads to the symptoms of the disorder, often including intellectual disability and ...
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Health Supervision for Children With Fragile X Syndrome
... Fragile X syndrome is usually diagnosed during childhood and is characterized by developmental delay or mental retardation, characteristic physical features, and abnormal behavioral patt[r] ...
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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome
... FMR1: Fragile-X mental retardation 1; FMRP: Fragile-X mental retardation 1 protein; FXTAS: Fragile X-associated Tremor/Ataxia syndrome; PM: Fragile-X mental ...
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Conducting Research With an Adolescent Diagnosed With Fragile X Syndrome
... with fragile X ...of fragile X syndrome on an adolescent girl; and the aspects of ethical and rigorous ...by fragile X ...
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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
... a normal FMR1 gene have fewer than 41 CGG repeats at the 59 untranslated region of the gene. Three discrete disorders that increase morbidity of individuals carrying an expansion have been characterized, each associated ...
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