Fragile X Syndrome
What's New
Last Posted: Apr 11, 2024
- Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425 - Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719 - De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam.
Hoa Thi Phuong Bui et al. PLoS One 2024 19(3) e0290936 - A holistic approach to fragile X syndrome integrated guidance for person-centred care.
Kirsten Johnson et al. J Appl Res Intellect Disabil 2024 37(3) e13214 - "We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.
Jacintha Luermans et al. Am J Med Genet A 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
More
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
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 Public Health Genomics Branch 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, 2024
- Content source: