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Precision Health Database


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Rare Diseases

Last data update: Jun 09, 2023. (Total: 60181 Documents since 2012)
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Query Trace: Fragile X Syndrome[original query]>>Reviews/Commentaries[Product Type]
Fragile X syndrome: Learning what families need, one person at a time.
CDC, July 2022
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang Cedrik et al. Genes 2021 12(11)
Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Hayward Bruce E et al. Genes 2021 12(10)
Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.
Bangert Katherine et al. Seminars in speech and language 2021 42(4) 277-286
Genetics in human reproduction.
Rodrigues Vivian de Oliveira et al. JBRA assisted reproduction 2020 Apr
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
Item of Interest: Now Available: NIH Research Plan on Fragile X and Associated Conditions
NIH, November 2019
New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019
Was the Human Genome Project a dud?
EF Torrey, Dallas Morning News, October 13, 2019
The wild west of prenatal genetic testing
A Ramchandani, Mashable, August 2019
Key Findings: Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome
CDC, July 2019
Fragile X Syndrome: Introduction.
Reches Adi et al. Methods in molecular biology (Clifton, N.J.) 2019 19423-10
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
How Do I Assess a Family Tree for Inheritance Patterns?
Kievit Anneke et al. Movement disorders clinical practice 5(4) 453
Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.
Lee Anna W et al. Brain sciences 2018 Dec 8(12)
[Fragile X syndrome: new therapeutic strategies].
Zeidler S et al. Tijdschrift voor psychiatrie 60(5) 338-342
Challenges in prenatal screening and counselling for fragile X syndrome.
Mak A Sl et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 23(2) 108-9
[FROM GENETICS OF FRAGILE X SYNDROME TO DEVELOPMENT OF TARGETED AND PERSONALIZED DRUG THERAPY].
Gabis Lidia V et al. Harefuah 2018 Aug 157(8) 529-533
Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
Hall Deborah A et al. Handbook of clinical neurology 2018 147377-391
Expert Stresses Importance of Genetic Testing in Ovarian Cancer,
by Caroline Seymour, OncLive, July 12, 2018
Fragile X Syndrome Therapy Granted Orphan Drug Designation
M Shanley, RareDR, Apr 3, 2018
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Fernandez Bridget A et al. Dialogues in clinical neuroscience 2017 Dec 19(4) 353-371
[Introduction to Genetic/Rare Disease and the Application of Genetic Counseling].
Chu Shao-Yin et al. Hu li za zhi The journal of nursing 2017 Oct 64(5) 11-17
Health problems in females carriers of premutation in the FMR1 gene.
Lisik Malgorzata Zofia et al. Psychiatria polska 2017 Oct 51(5) 899-907
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis Elizabeth M et al. Nature reviews. Drug discovery 2017 Dec
Special issue: Fragile X syndrome
Science Signaling, Nov 7, 2017
Fragile X Syndrome
CDC portal
Fragile X: Experts say all women should be offered screening for genetic condition
ABC News Australia, August 5, 2017
Fragile X syndrome: an overview and update of the FMR1 gene.
Mila Montserrat et al. Clinical genetics 2017 Jun
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