| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | James R. Lupski | Q6141679 |
| P2093 | author name string | Christine J Shaw | |
| Marjorie A Withers | |||
| P2860 | cites work | Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse | Q24672496 |
| Genome architecture, rearrangements and genomic disorders | Q29614721 | ||
| Alu repeats and human disease | Q29618262 | ||
| Genome architecture catalyzes nonrecurrent chromosomal rearrangements | Q33904646 | ||
| Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. | Q33905308 | ||
| Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. | Q34353994 | ||
| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients | Q34385379 | ||
| Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome | Q34441884 | ||
| The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors | Q34804028 | ||
| Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). | Q35204512 | ||
| Characterization of recombination in the HLA class II region. | Q35238365 | ||
| Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders | Q35444636 | ||
| Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus | Q35642967 | ||
| Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease | Q35649549 | ||
| Eukaryotic topoisomerase II preferentially cleaves alternating purine-pyrimidine repeats | Q35825156 | ||
| (dT-dC)n and (dG-dA)n tracts arrest single stranded DNA replication in vitro | Q35864526 | ||
| Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients | Q35881635 | ||
| Unusual sequence element found at the end of an amplicon | Q36844088 | ||
| Intramolecular DNA triplexes: unusual sequence requirements and influence on DNA polymerization | Q37322500 | ||
| Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs | Q38351157 | ||
| One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. | Q40392697 | ||
| The biology of left-handed Z-DNA. | Q41004906 | ||
| DNA H form requires a homopurine-homopyrimidine mirror repeat. | Q41333032 | ||
| Mutational mechanisms of Williams-Beuren syndrome deletions | Q41897140 | ||
| A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. | Q48066076 | ||
| Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)] | Q48611267 | ||
| Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? | Q51948225 | ||
| Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP | Q58184692 | ||
| Facile transition of poly[d(TG)·d(CA)] into a left-handed helix in physiological conditions | Q59054191 | ||
| Effect of Z-DNA on nucleosome placement | Q69450403 | ||
| A pH-dependent structural transition in the homopurine-homopyrimidine tract in superhelical DNA | Q69936025 | ||
| Transcriptional block caused by a negative supercoiling induced structural change in an alternating CG sequence | Q70077678 | ||
| Recombination hotspot in NF1 microdeletion patients | Q74147626 | ||
| Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits | Q77572380 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Smith-Magenis syndrome | Q2295338 |
| P304 | page(s) | 75-81 | |
| P577 | publication date | 2004-07-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates | |
| P478 | volume | 75 |
| Q24683002 | Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype |
| Q57263663 | Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions |
| Q35880845 | Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies |
| Q41766829 | Copy number variation at the breakpoint region of isochromosome 17q. |
| Q52029695 | Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. |
| Q41611996 | DNA recombination. Recombination initiation maps of individual human genomes |
| Q51915729 | Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. |
| Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
| Q36071991 | Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome |
| Q35286506 | Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over |
| Q33805828 | From microscopes to microarrays: dissecting recurrent chromosomal rearrangements |
| Q21145278 | Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes |
| Q36863512 | Genomic rearrangements and sporadic disease |
| Q37160463 | Germline rates of de novo meiotic deletions and duplications causing several genomic disorders |
| Q24809343 | Hotspots of homologous recombination in the human genome: not all homologous sequences are equal |
| Q33938790 | Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion |
| Q37383603 | Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. |
| Q33708568 | Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS |
| Q53305151 | Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. |
| Q42217484 | Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms |
| Q36975128 | Mechanisms for human genomic rearrangements |
| Q35448081 | Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. |
| Q80962747 | Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms |
| Q34705135 | Phenotypic manifestations of copy number variation in chromosome 16p13.11. |
| Q37784332 | Phenotypic variability and genetic susceptibility to genomic disorders |
| Q37135729 | Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. |
| Q52594179 | Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. |
| Q37600502 | Serial segmental duplications during primate evolution result in complex human genome architecture |
| Q28266475 | Smith-Magenis syndrome |
| Q37872382 | Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways |
| Q61548983 | Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene |
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