Fragile X Syndrome
Last Posted: Sep 07, 2023
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
- Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023
- Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023
- Fragile X Syndrome – Moving Research FORWARD
CDC, July 2023
- Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?".
Beth Lincoln-Boyea et al. J Genet Couns 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
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
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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