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Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families
BackgroundEpilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In...
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Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders
BackgroundThe pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis....
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Polygenic Risk Score Reveals Genetic Heterogeneity of Alzheimer’s Disease between the Chinese and European Populations
BackgroundThe polygenic risk score (PRS) aggregates the effects of numerous genetic variants associated with a condition across the human genome and...
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Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study
BackgroundAutism and different neurodevelopmental conditions frequently co-occur, as do their symptoms at sub-diagnostic threshold levels....
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Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support
Purpose of ReviewElevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review...
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Genetic heterogeneity and subtypes of major depression
Major depression (MD) is a heterogeneous disorder; however, the extent to which genetic factors distinguish MD patient subgroups (genetic...
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Non-genetic stratification reveals epigenetic heterogeneity and identifies vulnerabilities of glycolysis addiction in lung adenocarcinoma subtype
Lung adenocarcinoma (LUAD) exhibits high heterogeneity and is well known for its high genetic variation. Recently, the understanding of non-genetic...
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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of...
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Understanding breast cancer heterogeneity through non-genetic heterogeneity
Intricacy in treatment and diagnosis of breast cancer has been an obstacle due to genotype and phenotype heterogeneity. Understanding of non-genetic...
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Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression
Analyzing different tumor regions by next generation sequencing allows the assessment of intratumor genetic heterogeneity (ITGH), a phenomenon that...
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Disentangling heterogeneity in substance use disorder: Insights from genome-wide polygenic scores
Substance use disorder (SUD) is a global health problem with a significant impact on individuals and society. The presentation of SUD is diverse,...
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Exploring the genetic heterogeneity in major depression across diagnostic criteria
Major depressive disorder (MDD) is defined differently across genetic research studies and this may be a key source of heterogeneity. While previous...
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Mitochondrial heterogeneity in diseases
As key organelles involved in cellular metabolism, mitochondria frequently undergo adaptive changes in morphology, components and functions in...
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The clonal heterogeneity of colon cancer with liver metastases
BackgroundColon cancer with liver metastases (CCLM) characterized by genetic heterogeneity is an evolutionary process leading to variations in...
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Molecular landscape and multi-omic measurements of heterogeneity in fetal adenocarcinoma of the lung
Fetal adenocarcinoma of the lung (FLAC) is a rare form of lung adenocarcinoma and was divided into high-grade (H-FLAC) and low-grade (L-FLAC)...
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Heterogeneity and endotypes in type 1 diabetes mellitus
Despite major advances over the past decade, prevention and treatment of type 1 diabetes mellitus (T1DM) remain suboptimal, with large and...
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Highlights the recent important findings in cancer heterogeneity
The therapeutic drugs, agents or techniques for the treatment of cancer could be misled since tumor tissues are frequently heterogeneous and hard to...
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Structural brain heterogeneity underlying symptomatic and asymptomatic genetic dystonia: a multimodal MRI study
BackgroundMost of DYT genotypes follow an autosomal dominant inheritance pattern with reduced penetrance; the mechanisms underlying the disease...
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The heterogeneity of Parkinson’s disease
The heterogeneity of Parkinson’s disease (PD), i.e. the various clinical phenotypes, pathological findings, genetic predispositions and probably also...