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DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7735, doi. 10.3390/ijms21207735
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- Article
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01034-7
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- Article
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1498, doi. 10.1002/ajmg.a.62106
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- Article
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
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- JAMA Network Open, 2022, v. 5, n. 1, p. e2141911, doi. 10.1001/jamanetworkopen.2021.41911
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- Article
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.
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- Genes, 2021, v. 13, n. 6, p. 798, doi. 10.3390/genes12060798
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- Article