Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro… - The American Journal of …, 2020 - cell.com
Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …
ambiguous genetic findings which can confound accurate diagnosis and clinical …
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome
The widespread availability of genetic testing for those with neurodevelopmental disorders
has highlighted the importance of many genes necessary for the proper development and …
has highlighted the importance of many genes necessary for the proper development and …
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
V Carmignac, S Nambot, D Lehalle, P Callier… - Clinical …, 2020 - Wiley Online Library
X‐linked intellectual disability (XLID) is a genetically heterogeneous condition involving
more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine …
more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine …
To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental …
M St John, T Tripathi, AT Morgan, DJ Amor - Neuroscience & Biobehavioral …, 2023 - Elsevier
Speech and language development are complex neurodevelopmental processes that are
incompletely understood, yet current evidence suggests that speech and language …
incompletely understood, yet current evidence suggests that speech and language …
Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease
C Xu, X Fu, H Qin, K Yao - Frontiers in Cellular Neuroscience, 2024 - frontiersin.org
DNA methylation plays a crucial role in development, aging, degeneration of various tissues
and dedifferentiated cells. This review explores the multifaceted impact of DNA methylation …
and dedifferentiated cells. This review explores the multifaceted impact of DNA methylation …
Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders
S Li, H Li, D Liu, Q Xing, X Chen… - … Journal of Medicine, 2023 - academic.oup.com
Background Mendelian disorders of the epigenetic machinery (MDEMs) are a newly
identified group of neurodevelopmental disorders (NDDs) and multiple congenital …
identified group of neurodevelopmental disorders (NDDs) and multiple congenital …
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability
PM Wu, WH Yu, CW Chiang, CY Wu, JS Chen… - Neurology …, 2021 - AAN Enterprises
Background and Objectives To investigate the pathogenicity of 2 novel KDM5C variations,
report the clinical and neuroimaging findings, and review the available literature. Methods …
report the clinical and neuroimaging findings, and review the available literature. Methods …
A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype
R Shen, Y Li, A Liang, S Li, C Yang, H Huang - BMC neurology, 2022 - Springer
Background Lysine (K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked
syndromic intellectual developmental disorder Claes-Jensen type in male patients. The …
syndromic intellectual developmental disorder Claes-Jensen type in male patients. The …
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype …
C Lintas, I Bottillo, R Sacco, A Azzarà, I Cassano… - Genes, 2022 - mdpi.com
As a consequence of the implementation of NGS technologies, the diagnostic yield of
neurodevelopmental disorders has dramatically increased during the past two decades …
neurodevelopmental disorders has dramatically increased during the past two decades …
[HTML][HTML] Deficiência intelectual com herança ligada ao X: estudo de irmandades com dois ou mais indivíduos afetados selecionadas pelos desvios extremos do …
MD Hanna - 2023 - bdtd.ibict.br
A deficiência intelectual (DI) é definida por limitações da função intelectual e do
comportamento adaptativo presente antes dos 22 anos de idade e afeta aproximadamente …
comportamento adaptativo presente antes dos 22 anos de idade e afeta aproximadamente …