Copy Number Variations (cnvs) - Neurology

Relevant Publications

Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.

Issue Release: 2024

Tumor cell enrichment by tissue suspension improves sensitivity to copy number variation in diffuse gastric cancer with low tumor content.

Issue Release: 2024

Copy number variations affecting growth curve parameters in a crossbred chicken population.

Issue Release: 2024

The fork remodeler helicase-like transcription factor in cancer development: all at once.

Issue Release: 2024

Investigating druggable kinases for targeted therapy in retinoblastoma.

Issue Release: 2024

Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient.

Issue Release: 2024

Copy number variations in autistic children.

Issue Release: 2024

Copy number variant risk loci for schizophrenia converge on the BDNF pathway.

Issue Release: 2024

Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing.

Issue Release: 2024

High prevalence of copy number variations in the Japanese participants with suspected MODY.

Issue Release: 2024

Integrated sequence-based genomic, transcriptomic, and methylation characterization of the susceptibility to tuberculosis in monozygous twins.

Issue Release: 2024

The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.

Issue Release: 2024

Optical Genome Mapping Reveals the Landscape of Structural Variations and Their Clinical Significance in HBOC-Related Breast Cancer.

Issue Release: 2024

Rare copy-number variants as modulators of common disease susceptibility.

Issue Release: 2024

COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma.

Issue Release: 2024

The use of high-resolution SNP arrays to detect congenital cardiac defects.

Issue Release: 2024

Computational inference of eIF4F complex function and structure in human cancers.

Issue Release: 2024

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.

Issue Release: 2024

Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.

Issue Release: 2024

Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.

Issue Release: 2024

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