scholarly article | Q13442814 |
P50 | author | James R. Lupski | Q6141679 |
P2093 | author name string | Claudia M B Carvalho | |
P2860 | cites work | Psoriasis is associated with increased beta-defensin genomic copy number | Q39789019 |
Genetics of pediatric central nervous system tumors | Q41667932 | ||
Genome structural variation and sporadic disease traits | Q48085036 | ||
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. | Q51907530 | ||
Complex chromosomal rearrangements in patients with chronic myeloid leukemia | Q58459382 | ||
Gain of chromosome arm 17q and adverse outcome in patients with neuroblastoma | Q77911604 | ||
Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q) | Q77914958 | ||
Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations | Q77920771 | ||
A bacterial artificial chromosome library for sequencing the complete human genome | Q22065763 | ||
Global variation in copy number in the human genome | Q24658083 | ||
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 | ||
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion | Q28141491 | ||
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability | Q28257488 | ||
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates | Q28262271 | ||
Isochromosome breakpoints on 17p in medulloblastoma are flanked by different classes of DNA sequence repeats | Q29037387 | ||
Various distinctive cytogenetic abnormalities in patients with acute myeloid leukaemia aged 60 years and older express adverse prognostic value: results from a prospective clinical trial | Q33264716 | ||
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 | ||
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 | ||
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. | Q33930829 | ||
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion | Q33938790 | ||
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. | Q34353994 | ||
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome | Q34441884 | ||
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome | Q34556894 | ||
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Q34556905 | ||
Recurrent DNA inversion rearrangements in the human genome | Q35699743 | ||
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. | Q35784798 | ||
High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells | Q36714190 | ||
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles | Q36718902 | ||
Human genes encoding U3 snRNA associate with coiled bodies in interphase cells and are clustered on chromosome 17p11.2 in a complex inverted repeat structure | Q39721767 | ||
P4510 | describes a project that uses | ImageQuant | Q112270642 |
P433 | issue | 11 | |
P304 | page(s) | 1724-1732 | |
P577 | publication date | 2008-08-19 | |
P1433 | published in | Genome Research | Q5533485 |
P1476 | title | Copy number variation at the breakpoint region of isochromosome 17q. | |
P478 | volume | 18 |
Q92229368 | 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements |
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Q33397024 | Array CGH in human leukemia: from somatics to genetics |
Q35862063 | Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. |
Q48141083 | Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification |
Q34019142 | Copy number variation in human health, disease, and evolution |
Q33697675 | Copy number variations in East-Asian population and their evolutionary and functional implications |
Q42079149 | Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers |
Q36048155 | Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement |
Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
Q33490245 | Gene copy number variation throughout the Plasmodium falciparum genome |
Q37198442 | Genomic disorders ten years on. |
Q39409500 | Hepatocellular and cholangiolar carcinoma-derived cell lines reveal distinct sets of chromosomal imbalances |
Q34151920 | High rates of de novo 15q11q13 inversions in human spermatozoa |
Q41909121 | High-resolution fish on DNA fibers for low-copy repeats genome architecture studies |
Q42660797 | Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder |
Q34046894 | Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. |
Q36975128 | Mechanisms for human genomic rearrangements |
Q35809666 | Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors |
Q37545129 | Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. |
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Q34108929 | Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors. |
Q36339846 | Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome |
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Q35226155 | 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 |
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Q33649800 | Rad51 inhibits translocation formation by non-conservative homologous recombination in Saccharomyces cerevisiae |
Q52747100 | Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series. |
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Q39196263 | Somatic recombination in adult tissues: What is there to learn? |
Q35230286 | Structural variation of the human genome: mechanisms, assays, and role in male infertility |
Q58067577 | The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease |
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