Results 31 to 40 of about 5,818,395 (361)
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]
, 2015 Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J +13 more
core +2 more sources
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core +1 more source
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Clinical and molecular correlates in fragile X premutation females. [PDF]
, 2017 The prevalence of the fragile X premutation (55-200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes.
AlOlaby, Reem R +13 more
core +2 more sources
Fragile X mental retardation protein modulates the stability of its m6A‐marked messenger RNA targets
Human Molecular Genetics, 2018 &NA; N 6‐methyladenosine (m6A) is the most prevalent internal modification of mammalian messenger RNAs (mRNAs) and long non‐coding RNAs. The biological functions of this reversible RNA modification can be interpreted by cytoplasmic and nuclear ‘m6A ...
Feiran Zhang +9 more
semanticscholar +1 more source
New distal marker closely linked to the fragile X locus [PDF]
, 1991 We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466.
Broersen, A. (Alexander) +5 more
core +1 more source
Translational Neuroscience, 2017 Fragile X syndrome (FXS) is the leading genetic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID) worldwide. Preclinical successes in understanding the biology of FXS have led to numerous translational attempts in human ...
Duy Phan Q., Budimirovic Dejan B.
doaj +1 more source
Chloride imbalance in Fragile X syndrome
Frontiers in Neuroscience, 2022 Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
doaj +1 more source
Fragile X-Associated Neuropsychiatric Disorders (FXAND)
Frontiers in Psychiatry, 2018 Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
R. Hagerman +5 more
semanticscholar +1 more source
Fragile X Syndrome Recognition
Pediatric Neurology Briefs, 1989 The clinical characteristics of 20 children younger than 7½ years of age with the fragile X syndrome were reviewed at the Cincinnati Center for Developmental Disorders, Children’s Hospital Medical Center, University of Cincinnati College of Medicine ...
J Gordon Millichap
doaj +1 more source