Fragile X Syndrome
Last Posted: Jul 29, 2022
- Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022
- Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
Brašic James Robert et al. Brain sciences 2022 12(3)
- Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang Cedrik et al. Genes 2021 12(11)
- FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.
Zhang Jin-Yu et al. World journal of pediatrics : WJP 2021
- Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Hayward Bruce E et al. Genes 2021 12(10)
- What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
Sonigo C et al. Human reproduction (Oxford, England) 2021
- Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.
Bangert Katherine et al. Seminars in speech and language 2021 42(4) 277-286
- Parent clinical trial priorities for fragile X syndrome: a best–worst scaling
E. Turbitt et al, EJHG, June 24, 2021
- Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
Capalbo A et al. Human reproduction (Oxford, England) 2021
- The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher Pia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
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Selected Rare Diseases
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