Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with...

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile...

female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's...

resulting in neurodegeneration. Fragile X syndrome is caused by the expansion of the DNA sequence CCG in the FMR1 gene on the X chromosome. This gene produces...

studies of metadoxine in relation to human exposure, Alcobra said. Fragile X syndrome (FXS) is a genetic disorder that is the most common single gene cause...

these diseases demonstrated this relationship. In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG...

syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a females cells have only one X chromosome or are partially missing an X chromosome...

pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. If one child has Fragile X, there is...

disorders. Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders...

known as basal cell nevus syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration) such as Alexander...

pathology is unknown. Hypersensitivity and memory deficits due to Fragile X syndrome may be linked to gamma rhythm abnormalities in the sensory cortex...

Zatolmilast is a investigational new drug that is being evaluated to treat fragile X syndrome. It is a PDE4D allosteric inhibitor. "Zatolmilast - Tetra Therapeutics"...

Moss, J. (December 2021). "Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence". Journal of...

rickets: X-linked hypophosphatemia Rett syndrome (95% of cases are due to sporadic mutations) Fragile-X Syndrome Most cases of Alport syndrome Incontinentia...

neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome". Current Opinion in Neurology (Review). 25 (2): 112–24...

Foster–Kennedy syndrome Fountain syndrome Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Franceschetti–Klein syndrome Frank–ter...

Clinically, the most important rare fragile site is FRAXA in the FMR1 gene, which is associated with the fragile X syndrome, the most common cause of hereditary...

trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to...

large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual...

fragile X syndrome found that the FMR1 gene has an unstable CGG trinucleotide repeat sequence in its promoter region. Individuals with this syndrome have...

development include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1 Deficiency Syndrome; childhood infections such as meningitis or encephalitis...

researching the causes of and treatments for autism spectrum disorders, fragile X syndrome, and other neurodevelopmental disorders. The director of the MIND...

refer to: Fluctuation X-ray scattering, scientific technique Foreign exchange station, telephone terminology Fragile X syndrome, genetic disorder Toyota...

Beckwith–Wiedemann syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel...

Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...

syndrome Turner syndrome Noonan syndrome Patau syndrome DiGeorge syndrome Cri du chat syndrome Edwards syndrome Fragile X syndrome Okamoto syndrome It...

term used to describe the anomalous pattern of inheritance found in fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation...

Apert syndrome Crouzon syndrome Down syndrome Ehlers-Danlos Syndrome Friedreich's ataxia Fragile X syndrome Incontinentia pigmenti Marfan syndrome Sotos...

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". omim.org. Retrieved 2019-04-16. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim...

Julia Bell described a pedigree of X-linked intellectual disability. This would later be called Fragile X syndrome, and is now considered one of the genetic...