Pages that link to "Q35766412"

The following pages link to Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. (Q35766412):

Displaying 38 items.

• Mechanisms underlying structural variant formation in genomic disorders (Q26765934) (← links)
• Major influence of repetitive elements on disease-associated copy number variants (CNVs) (Q28078563) (← links)
• The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. (Q30379223) (← links)
• Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins (Q33919970) (← links)
• Mechanisms for Complex Chromosomal Insertions. (Q36202375) (← links)
• Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation (Q36479894) (← links)
• DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. (Q36663129) (← links)
• Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4. (Q36893804) (← links)
• Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome (Q37153021) (← links)
• Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation (Q39174818) (← links)
• Break-induced replication links microsatellite expansion to complex genome rearrangements (Q39378331) (← links)
• High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles (Q39856568) (← links)
• Dual loss of human POLQ and LIG4 abolishes random integration (Q41001095) (← links)
• WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome (Q47252088) (← links)
• The role of transposable elements in functional evolution of amphioxus genome: the case of opsin gene family (Q48095428) (← links)
• Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). (Q49598302) (← links)
• Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease. (Q49825852) (← links)
• Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions (Q51240897) (← links)
• An Organismal CNV Mutator Phenotype Restricted to Early Human Development. (Q52712904) (← links)
• Multi-Invasion-Induced Rearrangements as a Pathway for Physiological and Pathological Recombination. (Q52724127) (← links)
• Madagascar ground gecko genome analysis characterizes asymmetric fates of duplicated genes. (Q53692466) (← links)
• Remapping of the belted phenotype in cattle on BTA3 identifies a multiplication event as the candidate causal mutation. (Q55510434) (← links)
• Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing (Q59790491) (← links)
• Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization (Q59810740) (← links)
• Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias (Q61964007) (← links)
• A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia (Q88391260) (← links)
• Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements (Q89120526) (← links)
• Transposable elements in human genetic disease (Q90084192) (← links)
• An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health (Q90111607) (← links)
• Break-induced replication plays a prominent role in long-range repeat-mediated deletion (Q90393620) (← links)
• LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV (Q90798404) (← links)
• Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants (Q91819726) (← links)
• BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance (Q91891098) (← links)
• 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements (Q92229368) (← links)
• Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing (Q92658888) (← links)
• Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis (Q92801897) (← links)
• Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome (Q92863416) (← links)
• Cytogenetically visible inversions are formed by multiple molecular mechanisms (Q99243096) (← links)