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Epigenomics|August 13, 2025
High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systemsCaleb Cartagena, Mohammed Alshawsh, Minh Q Bui, et al.Journal of Autism and Developmental Disorders|July 22, 2021
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in AustraliaEmma K Baker, Sheena Arora, David J Amor, et al.Clinical Dysmorphology|February 2, 2002
Morbid obesity and hyperphagia in the WAGR syndromeDavid J AmorJournal of Paediatrics and Child Health|October 9, 2018
Investigating the child with intellectual disabilityDavid J AmorTranslational Psychiatry|October 29, 2020
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disordersEmma K Baker, Merlin G Butler, Samantha N Hartin, et al.Disability and Health Journal|January 13, 2023
Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life yearsSally L Sansom, Emma K Baker, David E Godler, et al.Research in Developmental Disabilities|September 30, 2022
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disordersMarta Arpone, Lesley Bretherton, David J Amor, et al.Scientific Reports|October 27, 2019
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X TestingCharles H Hensel, Rena J Vanzo, Megan M Martin, et al.Human Molecular Genetics|January 12, 2013
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 pubertyDavid E Godler, Yoshimi Inaba, Elva Z Shi, et al.Clinical Chemistry|January 12, 2012
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 studyDavid E Godler, Howard R Slater, Quang M Bui, et al.Pageof 27