Search Results - "GODLER, David E"

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome by Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.

“…This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55–199 CGGs),…”
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DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome by Kraan, Claudine M, Baker, Emma K, Arpone, Marta, Bui, Minh, Ling, Ling, Gamage, Dinusha, Bretherton, Lesley, Rogers, Carolyn, Field, Michael J, Wotton, Tiffany L, Francis, David, Hunter, Matt F, Cohen, Jonathan, Amor, David J, Godler, David E

“…Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic…”
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Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing by Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E

“…Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease…”
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β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies by Kraan, Claudine M, Cornish, Kim M, Bui, Quang M, Li, Xin, Slater, Howard R, Godler, David E

“…Relationships between Fragile X Mental Retardation 1 (FMR1) mRNA levels in blood and intragenic FMR1 CGG triplet expansions support the pathogenic role of RNA…”
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome by Baker, Emma K, Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M, Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael J, Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E

“…Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full…”
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Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes by Baker, Emma K, Godler, David E, Bui, Minh, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Amor, David J, Bretherton, Lesley

“…Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the…”
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Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation by Hocking, Darren R., PhD, Birch, Rachael C., PhD, Bui, Quang M., PhD, Menant, Jasmine C., PhD, Lord, Stephen R., PhD, Georgiou-Karistianis, Nellie, PhD, Godler, David E., PhD, Wen, Wei, PhD, Hackett, Anna, PhD, Rogers, Carolyn, Trollor, Julian N., MD

“…Abstract Recent evidence indicates that adults with a premutation expansion (PM: 55-199 CGG repeats) in the fragile X mental retardation 1 ( FMR1 ) gene show…”
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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features by Baker, Emma K, Arpone, Marta, Aliaga, Solange M, Bretherton, Lesley, Kraan, Claudine M, Bui, Minh, Slater, Howard R, Ling, Ling, Francis, David, Hunter, Matthew F, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M, Amor, David J, Godler, David E

“…Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the 1 product (FMRP),…”
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FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles by Godler, David E, Slater, Howard R, Bui, Quang M, Ono, Michele, Gehling, Freya, Francis, David, Amor, David J, Hopper, John L, Hagerman, Randi, Loesch, Danuta Z

“…Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually…”
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Epigenetics of fragile X syndrome and fragile X‐related disorders by Kraan, Claudine M, Godler, David E, Amor, David J

“…The fragile X mental retardation 1 gene (FMR1)‐related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the…”
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The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia by Baker, Emma K., Arora, Sheena, Amor, David J., Date, Perrin, Cross, Meagan, O’Brien, James, Simons, Chloe, Rogers, Carolyn, Goodall, Stephen, Slee, Jennie, Cahir, Chris, Godler, David E.

“…The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with…”
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Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023 by Godler, David E, Brown, William T

“…Fragile X syndrome (FXS) is the leading single-gene cause of inherited intellectual disability and autism [...]…”
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Special Issue: Genetics of Prader-Willi Syndrome by Godler, David E, Butler, Merlin G

“…This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader-Willi syndrome (PWS) and their reflective area of interest impacting…”
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Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years by Hartmanis, Sally L., Baker, Emma K., Godler, David E., Liew, Danny

“…Angelman syndrome (AS) is a rare genetic condition characterized by global developmental delay, including severe intellectual disability. The parents of…”
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Umbilical Cord Blood Cell Clearance Post-Infusion in Immune-Competent Children with Cerebral Palsy by Crompton, Kylie, Godler, David E, Ling, Ling, Elwood, Ngaire, Mechinaud-Heloury, Francoise, Soosay Raj, Trisha, Hsiao, Kuang-Chih, Fleming, Jacqueline, Tiedemann, Karin, Novak, Iona, Fahey, Michael, Wang, Xiaofang, Lee, Katherine J, Colditz, Paul B, Edwards, Priya, Reddihough, Dinah

“…Umbilical cord blood cells have therapeutic potential for neurological disorders, through a paracrine mechanism of action. A greater understanding of the…”
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Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program by Jarmolowicz, Anna I., Baker, Emma K., Bartlett, Essra, Francis, David, Ling, Ling, Gamage, Dinusha, Delatycki, Martin B., Godler, David E.

“…Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation: FM). Typically, FM causes abnormal methylation of the FMR1 promoter and…”
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FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome by Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.

“…Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein…”
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Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders by Arpone, Marta, Bretherton, Lesley, Amor, David J., Hearps, Stephen J.C., Rogers, Carolyn, Field, Michael J., Hunter, Matthew F., Santa Maria, Lorena, Alliende, Angelica M., Slee, Jennie, Godler, David E., Baker, Emma K.

“…Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and objective outcome measures for…”
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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 by Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.

“…We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The…”
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Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns by Alshawsh, Mohammed, Wake, Melissa, Gecz, Jozef, Corbett, Mark, Saffery, Richard, Pitt, James, Greaves, Ronda, Williams, Katrina, Field, Michael, Cheong, Jeanie, Bui, Minh, Arora, Sheena, Sadedin, Simon, Lunke, Sebastian, Wall, Meg, Amor, David J, Godler, David E

“…This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria,…”
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