Fragile X Syndrome
Last Posted: Mar 09, 2023
- The incidence and clinical characteristics of fragile X syndrome in China.
Lianni Mei et al. Frontiers in pediatrics 2023 111064104
- Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia.
Deborah Schofield et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100813
- [Clinical practice guidelines for Fragile X syndrome].
Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 39(11) 1181-1186
- Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice.
Raspa Melissa et al. Journal of developmental and behavioral pediatrics : JDBP 2022
- Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
Leibowitz Ruth et al. Australian journal of primary health 2022
- Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Liang Qiaowei et al. Clinical chemistry 2022
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.
Dy Angel Belle C et al. Journal of autism and developmental disorders 2022
- The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.
Zhang Wen et al. Frontiers in pediatrics 2022 10911805
- Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022
- Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.
Movaghar Arezoo et al. BMC medical informatics and decision making 2022 22(1) 152
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.
Shahid Rabia et al. Pediatric research 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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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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 29, 2023
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