Fragile X Syndrome
Last Posted: Aug 05, 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
- 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
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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