Lista de obras - David E Godler - Dominio Público Uruguay

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

artículo científico publicado en 2019

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing

scientific article published on 21 February 2019

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.

artículo científico publicado en 2016

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.

artículo científico publicado en 2016

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

artículo científico publicado en 2019

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

artículo científico publicado en 2020

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders

scientific article published on 07 November 2019

Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responses.

artículo científico publicado en 2015

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

artículo científico publicado en 2015

Epigenetics of fragile X syndrome and fragile X-related disorders

scientific article published on 07 August 2018

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

artículo científico publicado en 2014

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

article

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

artículo científico publicado en 2018

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.

artículo científico publicado en 2012

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

artículo científico publicado en 2012

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

artículo científico publicado en 2020

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

artículo científico publicado en 2015

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

artículo científico publicado en 2009

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

artículo científico publicado en 2019

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

scientific article published on 26 December 2019

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

artículo científico publicado en 2018

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

artículo científico publicado en 2009

Methylation analysis in newborn screening for fragile X syndrome

artículo científico publicado en 2014

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

artículo científico publicado en 2010

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

artículo científico publicado en 2010

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

artículo científico publicado en 2016

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

artículo científico publicado en 2015

Parathyroid hormone-related peptide expression in rat collagen-induced arthritis.

artículo científico publicado en 2005

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

artículo científico publicado en 2016

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

artículo científico publicado en 2015

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

artículo científico publicado en 2018

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

artículo científico publicado en 2015

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

artículo científico publicado en 2020

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 pubert

artículo científico publicado en 2013

Selective subcortical contributions to gait impairments in males with the FMR1 premutation.

artículo científico publicado en 2016

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

scientific article published on 11 August 2019

White matter microstructure, cognition, and molecular markers in fragile X premutation females

artículo científico publicado en 2017

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

artículo científico publicado en 2016

β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.

artículo científico publicado en 2018

Lista de obras de David E Godler

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females.

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders

Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responses.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

Epigenetics of fragile X syndrome and fragile X-related disorders

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

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.

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Methylation analysis in newborn screening for fragile X syndrome

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

Parathyroid hormone-related peptide expression in rat collagen-induced arthritis.

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

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 pubert

Selective subcortical contributions to gait impairments in males with the FMR1 premutation.

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

White matter microstructure, cognition, and molecular markers in fragile X premutation females

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.