Fragile X Syndrome
Last Posted: Nov 19, 2020
- 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
- EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Carroll Renee et al. European journal of medical genetics 2020 Jul 104010
- Genetics in human reproduction.
Rodrigues Vivian de Oliveira et al. JBRA assisted reproduction 2020 Apr
- Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar
- Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb
- Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66
- Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).
Kengne Kamga Karen et al. Genes 2020 Jan 11(2)
- Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec
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