(Q33905308)

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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. (English)

1 reference

Europe PubMed Central

29 July 2017

James R. Lupski

6

object named as

James R Lupski

1 reference

Europe PubMed Central

29 July 2017

author name string

Weimin Bi

1

1 reference

Europe PubMed Central

29 July 2017

Sung-Sup Park

2

1 reference

Europe PubMed Central

29 July 2017

Christine J Shaw

3

1 reference

Europe PubMed Central

29 July 2017

Marjorie A Withers

4

1 reference

Europe PubMed Central

29 July 2017

Pragna I Patel

5

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

24 November 2003

1 reference

Europe PubMed Central

29 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

29 July 2017

73

1 reference

Europe PubMed Central

29 July 2017

1302-1315

1 reference

Europe PubMed Central

29 July 2017

6

1 reference

Europe PubMed Central

29 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular-evolutionary mechanisms for genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

AT-rich palindromes mediate the constitutional t(11;22) translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

DNA double strand break repair in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Long inverted repeats are an at-risk motif for recombination in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Factors affecting inverted repeat stimulation of recombination and deletion in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Inverted DNA repeats: a source of eukaryotic genomic instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Hypervariable 'minisatellite' regions in human DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Mechanisms of nonhomologous recombination in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

5 July 2018

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

29 October 2018

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

29 October 2018

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

29 October 2018

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180396

29 October 2018

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yeast ARMs (DNA at-risk motifs) can reveal sources of genome instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long AT-rich palindromes and the constitutional t(11;22) breakpoint

1 reference

https://pubmed.ncbi.nlm.nih.gov/14639526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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