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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
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
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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
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 357, doi. 10.1002/ajmg.a.63027
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- Publication type:
- Article
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 304, doi. 10.1002/ajmg.a.62500
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- Publication type:
- 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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- Publication type:
- Article
Recurrence and Postoperative Death in Patients with Colorectal Cancer: A New Perspective via Semi-competing Risk Framework.
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- Turkish Journal of Gastroenterology, 2023, v. 34, n. 7, p. 736, doi. 10.5152/tjg.2023.22540
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- Publication type:
- Article
EphrinB2/EphB4 inhibition in the osteoblast lineage modifies the anabolic response to parathyroid hormone.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 4, p. 912, doi. 10.1002/jbmr.1820
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- Article
Reply to “Testing for association between MeCP2 and the brahma-associated SWI/SNF chromatin-remodeling complex”.
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- 2006
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- Publication type:
- Letter
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 254, doi. 10.1038/ng1516
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- Publication type:
- Article
Assessing a hyperarousal hypothesis of insomnia in adults with autism spectrum disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2019, v. 12, n. 6, p. 897, doi. 10.1002/aur.2094
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- Publication type:
- Article
Methylation of the <i>SLC6a2</i> Gene Promoter in Major Depression and Panic Disorder.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083223
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- Publication type:
- 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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- Publication type:
- Article
Young Children with ASD Use Lexical and Referential Information During On-line Sentence Processing.
- Published in:
- Frontiers in Psychology, 2016, p. 1, doi. 10.3389/fpsyg.2016.00171
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- Publication type:
- Article
Epigenetic changes to the MDR1 locus in response to chemotherapeutic drugs.
- Published in:
- Oncogene, 2005, v. 24, n. 54, p. 8061, doi. 10.1038/sj.onc.1208955
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- Publication type:
- Article
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
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- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 4, p. 1682, doi. 10.1007/s10803-021-05193-4
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- Publication type:
- Article
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s11689-019-9288-7
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- Publication type:
- Article
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.
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- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9242-0
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- Publication type:
- Article
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68465-6
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- Publication type:
- Article
A longitudinal study of the relationships between sleep problems in autistic children and maternal mental health.
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- Autism: The International Journal of Research & Practice, 2023, v. 27, n. 7, p. 1891, doi. 10.1177/13623613221147397
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- Publication type:
- Article
Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism.
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- Autism: The International Journal of Research & Practice, 2021, v. 25, n. 2, p. 490, doi. 10.1177/1362361320965397
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- Publication type:
- Article
Employment status is related to sleep problems in adults with autism spectrum disorder and no comorbid intellectual impairment.
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- Autism: The International Journal of Research & Practice, 2019, v. 23, n. 2, p. 531, doi. 10.1177/1362361317745857
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- Publication type:
- Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0271-7
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- Publication type:
- Article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
- Published in:
- Genes, 2019, v. 10, n. 4, p. 279, doi. 10.3390/genes10040279
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- Publication type:
- Article
Myelosuppressive Therapies Significantly Increase Pro-Inflammatory Cytokines and Directly Cause Bone Loss.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 886, doi. 10.1002/jbmr.2415
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- Publication type:
- Article
Hyperglycemia Induces a Dynamic Cooperativity of Histone Methylase and Demethylase Enzymes Associated With Gene-Activating Epigenetic Marks That Coexist on the Lysine Tail.
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- Diabetes, 2009, v. 58, n. 5, p. 1229, doi. 10.2337/db08-1666
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- Publication type:
- Article