Fragile X Syndrome
Last Posted: May 27, 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
- Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size
EG Allen et al, Genetics in Medicine, April 29, 2021
- Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Movaghar Arezoo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- Clinical Characteristics of Fragile X Syndrome Patients in Japan.
Okazaki Tetsuya et al. Yonago acta medica 2021 64(1) 30-33
- Surveillance and prevalence of fragile X syndrome in Indonesia.
Sihombing Nydia Rena Benita et al. Intractable & rare diseases research 2021 10(1) 11-16
- Now Open for Applications for CDC Funding Opportunity: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
- Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.
Boardman Felicity K et al. Journal of genetic counseling 2020 Nov
- Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.
Wotton Tiffany et al. International journal of neonatal screening 2018 Mar 4(1) 9
- A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Budimirovic Dejan B et al. Brain sciences 2020 Sep 10(10)
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
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- Fragile X Syndrome
- Gaucher Disease
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