Pages that link to "Q34389945"
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The following pages link to Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints (Q34389945):
Displaying 50 items.
- Initial sequencing and analysis of the human genome (Q21045365) (← links)
- Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures (Q21266627) (← links)
- Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15 (Q21283782) (← links)
- Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons (Q24532789) (← links)
- Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control (Q24539092) (← links)
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 (Q24594577) (← links)
- Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human (Q24614728) (← links)
- Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster (Q24796820) (← links)
- A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues (Q24797302) (← links)
- Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes (Q24814259) (← links)
- Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions (Q25257898) (← links)
- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome (Q28074219) (← links)
- Major influence of repetitive elements on disease-associated copy number variants (CNVs) (Q28078563) (← links)
- Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion (Q28141491) (← links)
- Prader-Willi and Angelman syndromes: sister imprinted disorders (Q28200133) (← links)
- Chromosomal microdeletions: dissecting del22q11 syndrome (Q28206335) (← links)
- Segmental duplications and copy-number variation in the human genome (Q28253048) (← links)
- Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology (Q28263222) (← links)
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? (Q28283600) (← links)
- Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase (Q28472238) (← links)
- Functional characterization of NIPA2, a selective Mg2+ transporter (Q28507256) (← links)
- The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome (Q28776452) (← links)
- Genome architecture, rearrangements and genomic disorders (Q29614721) (← links)
- Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. (Q30168524) (← links)
- HECT E3s and human disease (Q30444132) (← links)
- Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons (Q30827417) (← links)
- DNM1DN: a new class of paralogous genomic segments (duplicons) with highly conserved copies on chromosomes Y and 15. (Q33199120) (← links)
- Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region (Q33316874) (← links)
- Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes (Q33575404) (← links)
- Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome (Q33687259) (← links)
- Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion (Q33717829) (← links)
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements (Q33805828) (← links)
- High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage (Q33998533) (← links)
- Recent duplication, domain accretion and the dynamic mutation of the human genome (Q34098904) (← links)
- Rare etiology of autosomal recessive disease in a child with noncarrier parents (Q34142703) (← links)
- A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. (Q34144412) (← links)
- A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23 (Q34146234) (← links)
- High rates of de novo 15q11q13 inversions in human spermatozoa (Q34151920) (← links)
- The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome (Q34190554) (← links)
- De novo rates and selection of large copy number variation (Q34239141) (← links)
- Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review (Q34242739) (← links)
- Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions (Q34315709) (← links)
- Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. (Q34353007) (← links)
- Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. (Q34353994) (← links)
- A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population (Q34354851) (← links)
- Segmental duplications: an 'expanding' role in genomic instability and disease (Q34389505) (← links)
- Unequal meiotic crossover: a frequent cause of NF1 microdeletions. (Q34390544) (← links)
- Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics (Q34417419) (← links)
- Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome (Q34556894) (← links)
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability (Q34572542) (← links)