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One or more keywords matched the following items that are connected to STANKIEWICZ, PAWEL
Item TypeName
Academic Article Genome architecture, rearrangements and genomic disorders.
Academic Article Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Academic Article Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Academic Article The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
Academic Article AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Academic Article Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Academic Article A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
Academic Article Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Academic Article Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Academic Article Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Academic Article Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
Academic Article Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Academic Article Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
Academic Article Population bottlenecks as a potential major shaping force of human genome architecture.
Academic Article Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Academic Article Structural variation in the human genome and its role in disease.
Academic Article HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
Academic Article Microdeletion and microduplication syndromes.
Academic Article Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
Academic Article Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Academic Article Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Academic Article The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Academic Article Serial segmental duplications during primate evolution result in complex human genome architecture.
Academic Article Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Academic Article Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Academic Article Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Academic Article Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article Inverted low-copy repeats and genome instability--a genome-wide analysis.
Academic Article Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Concept Genome, Human
Concept Genome-Wide Association Study
Concept Genome
Concept Genome, Mitochondrial
Academic Article NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Academic Article Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy.
Academic Article Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Academic Article SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
Academic Article Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Academic Article Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
Academic Article Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
Academic Article Assessing structural variation in a personal genome-towards a human reference diploid genome.
Academic Article Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article Somatic mosaicism: implications for disease and transmission genetics.
Academic Article Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Academic Article Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Academic Article Mechanisms for Complex Chromosomal Insertions.
Academic Article Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Academic Article CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.
Academic Article Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article An estimation of the prevalence of genomic disorders using chromosomal microarray data.
Academic Article Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Grant Unrecognized scale and clinical relevance of somatic mosaicism
Academic Article Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Concept Whole Genome Sequencing
Academic Article Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Academic Article Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Academic Article Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Academic Article Cloud-native distributed genomic pileup operations.
Academic Article Revised time estimation of the ancestral human chromosome 2 fusion.
Academic Article PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.
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