Fragile X Syndrome
Last Posted: Aug 22, 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
- Key Findings: Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome
CDC, July 2019
- Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenario.
Dean Deepika Delsa et al. Expert review of molecular diagnostics 2019 Jun 1-9
- Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.
Sachdeva Anupam et al. Indian pediatrics 2019 Mar 56(3) 221-228
- Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
Cai Xiaoqiang et al. Methods in molecular biology (Clifton, N.J.) 2019 194211-27
- Fragile X Syndrome: Introduction.
Reches Adi et al. Methods in molecular biology (Clifton, N.J.) 2019 19423-10
- How Do I Assess a Family Tree for Inheritance Patterns?
Kievit Anneke et al. Movement disorders clinical practice 5(4) 453
- Paediatricians underuse recommended genetic tests in children with global developmental delay.
Tremblay Isabelle et al. Paediatrics & child health 2018 Dec 23(8) e156-e162
- Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
Zhang Lei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb
- Fragile X syndrome clinical trials: exploring parental decision-making.
D'Amanda C S et al. Journal of intellectual disability research : JIDR 2019 Feb
- Does theFMR1 gene affect IVF success?
Pastore Lisa M et al. Reproductive biomedicine online 2018 Dec
- Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1)
- Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.
Lee Anna W et al. Brain sciences 2018 Dec 8(12)
- A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.
Tan Vivienne J et al. Frontiers in genetics 2018 9582
- CDC Information (11)
- NIH Information (4)
- CDC Publications (6)
- Human Genome Epidemiologic Studies (143)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (55)
- Genomic Tests Evidence Synthesis (6)
- Genomic Tests Guidelines (4)
- Tier-Classified Guidelines (2)
- State Public Health Genomics Programs (2)
- Reviews/Commentaries (33)
- Ethical/Legal and Social Issues (ELSI) (2)
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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