Found: 29
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Umbilical Cord Blood Cell Clearance Post-Infusion in Immune-Competent Children with Cerebral Palsy.
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- Cells Tissues Organs, 2023, v. 212, n. 6, p. 546, doi. 10.1159/000527612
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- Article
Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10712, doi. 10.3390/ijms241310712
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- Article
Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023.
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- 2023
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- Editorial
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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- 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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- 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
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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- Article
Special Issue: Genetics of Prader–Willi Syndrome.
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- Genes, 2021, v. 12, n. 9, p. 1429, doi. 10.3390/genes12091429
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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
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
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
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7735, doi. 10.3390/ijms21207735
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- 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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- Article
Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome.
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- Genes, 2020, v. 11, n. 7, p. 736, doi. 10.3390/genes11070736
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- Publication type:
- Article
DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.
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- Essays in Biochemistry, 2019, v. 63, n. 6, p. 785, doi. 10.1042/EBC20190056
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- Article
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51618-7
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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
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome.
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- 2019
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- Publication type:
- journal article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.
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- Genes, 2019, v. 10, n. 4, p. 279, doi. 10.3390/genes10040279
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- Publication type:
- Article
Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.575
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- Article
Epigenetics of fragile X syndrome and fragile X-related disorders.
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- 2019
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- Publication type:
- journal 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
β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.
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- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192151
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- Article
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
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- Clinical Chemistry, 2016, v. 62, n. 2, p. 343, doi. 10.1373/clinchem.2015.244681
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- Article
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2485, doi. 10.1002/ajmg.a.37163
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- Publication type:
- Article
Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots.
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- Clinical Chemistry, 2014, v. 60, n. 7, p. 963, doi. 10.1373/clinchem.2013.217331
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- Article
Methylation Analysis in Newborn Screening for Fragile X Syndrome.
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- JAMA Neurology, 2014, v. 71, n. 6, p. 800, doi. 10.1001/jamaneurol.2014.142
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- Article
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002
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- Article
Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.
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- Clinical Chemistry, 2012, v. 58, n. 3, p. 590, doi. 10.1373/clinchem.2011.177626
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- Article