Pages that link to "Q33904646"

The following pages link to Genome architecture catalyzes nonrecurrent chromosomal rearrangements (Q33904646):

Displaying 50 items.

• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes (Q21145278) (← links)
• Mechanisms of change in gene copy number (Q22122003) (← links)
• The Arabidopsis lyrata genome sequence and the basis of rapid genome size change (Q22122056) (← links)
• CNV and nervous system diseases--what's new? (Q24632941) (← links)
• Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication (Q24646722) (← links)
• Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype (Q24683002) (← links)
• Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum (Q28252393) (← links)
• Segmental duplications and copy-number variation in the human genome (Q28253048) (← links)
• Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates (Q28262271) (← links)
• In with the old, in with the new: the promiscuity of the duplication process engenders diverse pathways for novel gene creation (Q28727624) (← links)
• Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements (Q28728525) (← links)
• The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. (Q30379223) (← links)
• PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations (Q30415792) (← links)
• Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome (Q30434301) (← links)
• The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain (Q33245079) (← links)
• A microhomology-mediated break-induced replication model for the origin of human copy number variation (Q33404060) (← links)
• Identification of copy number variants defining genomic differences among major human groups (Q33507516) (← links)
• Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS (Q33708568) (← links)
• Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities (Q33708603) (← links)
• Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies (Q33788643) (← links)
• Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. (Q33905308) (← links)
• 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 (Q33909470) (← links)
• Dic(17;18)(p11.2;p11.2) is a recurring abnormality in chronic lymphocytic leukaemia associated with aggressive disease (Q33987045) (← links)
• Copy number variation in human health, disease, and evolution (Q34019142) (← links)
• Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. (Q34046894) (← links)
• The role of rare structural variants in the genetics of autism spectrum disorders (Q34060416) (← links)
• Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements (Q34217081) (← links)
• Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients (Q34227098) (← links)
• Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions (Q34315709) (← links)
• Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability (Q34544478) (← links)
• Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements (Q34705056) (← links)
• Disorders caused by chromosome abnormalities (Q34775497) (← links)
• Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. (Q34785861) (← links)
• Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization (Q34815369) (← links)
• Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture (Q34990719) (← links)
• Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes (Q35015379) (← links)
• On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease (Q35226155) (← links)
• Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over (Q35286506) (← links)
• Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders (Q35444636) (← links)
• Copy Number Variation at the APOL1 Locus (Q35560840) (← links)
• Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child (Q35726325) (← links)
• Non-B DNA conformations, genomic rearrangements, and human disease (Q35869768) (← links)
• Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits (Q35875197) (← links)
• Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies (Q35880845) (← links)
• Chromosomal phenotypes and submicroscopic abnormalities (Q35985485) (← links)
• Mechanisms for Complex Chromosomal Insertions. (Q36202375) (← links)
• Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome (Q36339846) (← links)
• A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture (Q36474818) (← links)
• Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats (Q36848387) (← links)
• Genomic rearrangements and sporadic disease (Q36863512) (← links)