Fragile X Syndrome
What's New
Last Posted: Feb 26, 2021
- 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: Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention Outcome Measures
- 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) - Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.
Gürkan Hakan et al. Noro psikiyatri arsivi 2020 Sep 57(3) 177-191 - [Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases].
Li Jiao et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Oct 37(10) 1104-1107 - Genetic modifiers in rare disorders: the case of fragile X syndrome.
Crawford Hayley et al. European journal of human genetics : EJHG 2020 Aug - Socioeconomic status and uptake of reproductive carrier screening in Australia.
Robson Stephen J et al. The Australian & New Zealand journal of obstetrics & gynaecology 2020 Aug
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About Rare Diseases PHGKB
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
Content Summary
- CDC Information (11)
- NIH Information (6)
- COVID-19 (2)
- CDC Publications (5)
- Human Genome Epidemiologic Studies (128)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (67)
- Genomic Tests Evidence Synthesis (6)
- Genomic Tests Guidelines (4)
- Tier-Classified Guidelines (2)
- State Public Health Genomics Programs (2)
- Reviews/Commentaries (37)
- Ethical/Legal and Social Issues (ELSI) (2)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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:Oct 1, 2020
- Page last updated:Mar 04, 2021
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