Fragile X Syndrome
Last Posted: Mar 19, 2020
- 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
- Fragile X-associated conditions: implications for the whole family.
McKechanie Andrew G et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2019 Sep 69(686) 460-461
- 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
- Item of Interest: Now Available: NIH Research Plan on Fragile X and Associated Conditions
NIH, November 2019
- 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
- New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019
- Fragile X syndrome carrier screening in pregnant women in Chinese Han population.
Hung Chia-Cheng et al. Scientific reports 2019 Oct 9(1) 15456
- Was the Human Genome Project a dud?
EF Torrey, Dallas Morning News, October 13, 2019
- [Prenatal diagnosis for 30 women carrying a FMR1 mutation].
Huang Wen et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Sep 36(9) 866-869
- The wild west of prenatal genetic testing
A Ramchandani, Mashable, August 2019
- Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich Arnold et al. Molecular autism 2019 1033
- Preventive care services and health behaviors in children with fragile X syndrome.
Gilbertson Kendra E et al. Disability and health journal 2019 May
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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
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- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
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