Lista de obras - Allison M Cotton - Dominio Público Uruguay

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

artículo científico publicado en 2017

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array

artículo científico publicado en 2013

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

artículo científico publicado en 2013

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

artículo científico publicado en 2017

Bone health and SATB2-associated syndrome.

artículo científico publicado en 2017

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation

artículo científico publicado en 2011

DNA methylation is globally disrupted and associated with expression changes in chronic obstructive pulmonary disease small airways

artículo científico publicado en 2014

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

artículo científico publicado en 2015

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues

artículo científico publicado en 2012

Inactive X chromosome-specific reduction in placental DNA methylation

artículo científico publicado en 2009

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

artículo científico publicado en 2014

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

artículo científico publicado en 2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

artículo científico publicado en 2017

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

artículo científico publicado en 2015

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

artículo científico publicado en 2013

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing

artículo científico publicado en 2012

Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression

artículo científico publicado en 2014

X chromosome inactivation: heterogeneity of heterochromatin

artículo científico publicado en 2008

X-Chromosome Inactivation

article from 2013

X-chromosome inactivation: molecular mechanisms from the human perspective

scientific article published on 07 May 2011

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells

artículo científico publicado en 2013

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses

artículo científico publicado en 2016

Lista de obras de Allison M Cotton

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Bone health and SATB2-associated syndrome.

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation

DNA methylation is globally disrupted and associated with expression changes in chronic obstructive pulmonary disease small airways

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues

Inactive X chromosome-specific reduction in placental DNA methylation

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing

Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression

X chromosome inactivation: heterogeneity of heterochromatin

X-Chromosome Inactivation

X-chromosome inactivation: molecular mechanisms from the human perspective

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses