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Rare Diseases

Last data update: Mar 20, 2023. (Total: 58791 Documents since 2012)
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Query Trace: Fragile X Syndrome[original query]>>Original Studies[Product Type]
The incidence and clinical characteristics of fragile X syndrome in China.
Lianni Mei et al. Frontiers in pediatrics 2023 111064104
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
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)
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
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
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
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
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
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
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
Johansen Taber Katherine et al. Molecular genetics & genomic medicine 2019 Nov e1024
Fragile X syndrome carrier screening in pregnant women in Chinese Han population.
Hung Chia-Cheng et al. Scientific reports 2019 Oct 9(1) 15456
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