نتایج جستجو برای: fragile x syndrome

تعداد نتایج: 1201318  

Journal: :GSC Advanced Research and Reviews 2023

Fragile X syndrome (FXS) is one of the many disorders that are known and caused by some alteration or modification at genetic level, main characteristics this type also called Martin-Bell syndrome, intellectual disability, as well certain behaviors due to behavioral disorders, This changes in FMR1 gene, which very important because it responsible for producing FMRP protein, has function brain d...

Journal: :Expert Review of Molecular Diagnostics 2016

Journal: :Pediatric Neurology Briefs 2003

Journal: :Developmental Medicine & Child Neurology 2007

Journal: :Neuroscience Bulletin 2008

Journal: :Nature Reviews Genetics 2014

Journal: :Pediatric Neurology Briefs 1991

Journal: :Journal of Medical Genetics 1991

Journal: :Brain research 2011
Catherine H Choi Brian P Schoenfeld Aaron J Bell Paul Hinchey Maria Kollaros Michael J Gertner Newton H Woo Michael R Tranfaglia Mark F Bear R Suzanne Zukin Thomas V McDonald Thomas A Jongens Sean M J McBride

Fragile X syndrome is the leading single gene cause of intellectual disabilities. Treatment of a Drosophila model of Fragile X syndrome with metabotropic glutamate receptor (mGluR) antagonists or lithium rescues social and cognitive impairments. A hallmark feature of the Fragile X mouse model is enhanced mGluR-dependent long-term depression (LTD) at Schaffer collateral to CA1 pyramidal synapses...

2011
Joseph H. Hersh Robert A. Saul

Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple fa...

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