Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (Q35784798)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997339%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs (English)

1 reference

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10 December 2019

main subject

Smith-Magenis syndrome

1 reference

1

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10 December 2019

8

James R Lupski

1 reference

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10 December 2019

2

Paweł Stankiewicz

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10 December 2019

author name string

Weimin Bi

3

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10 December 2019

Christine Shaw

4

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10 December 2019

Jessica Lehoczky

5

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10 December 2019

Ken Dewar

6

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10 December 2019

Bruce Birren

7

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10 December 2019

language of work or name

1 reference

1 May 2002

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10 December 2019

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10 December 2019

volume

12

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10 December 2019

issue

5

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10 December 2019

page(s)

729-738

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

10 December 2019

cites work

1 reference

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27 July 2018

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

27 July 2018

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Recent duplication, domain accretion and the dynamic mutation of the human genome

27 July 2018

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Segmental duplications: an 'expanding' role in genomic instability and disease

27 July 2018

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

27 July 2018

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The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP

27 July 2018

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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

27 July 2018

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Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

27 July 2018

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Initial sequencing and analysis of the human genome

27 July 2018

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

27 July 2018

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Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

27 July 2018

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Molecular mechanisms for constitutional chromosomal rearrangements in humans

27 July 2018

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Structure of chromosomal duplicons and their role in mediating human genomic disorders

27 July 2018

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

27 July 2018

1 reference

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The DNA sequence of human chromosome 22

27 July 2018

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Molecular mechanisms for CMT1A duplication and HNPP deletion

27 July 2018

1 reference

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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

27 July 2018

1 reference

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An anchored framework BAC map of mouse chromosome 11 assembled using multiplex oligonucleotide hybridization

27 July 2018

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A molecular timescale for vertebrate evolution

27 July 2018

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The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene

27 July 2018

1 reference

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High throughput fingerprint analysis of large-insert clones

27 July 2018

1 reference

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

27 July 2018

1 reference

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186597

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

27 July 2018

1 reference

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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

27 July 2018

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Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

27 July 2018

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

27 July 2018

1 reference

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Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

27 July 2018

1 reference

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Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs.

27 July 2018

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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).

25 September 2018

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NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

25 September 2018

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Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.

25 September 2018

1 reference

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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

25 September 2018

1 reference

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Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics

25 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Gains and losses of DNA sequences in osteosarcomas by comparative genomic hybridization

1 reference

12 December 2020

Pathological consequences of sequence duplications in the human genome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping of the breakpoints on the short arm of chromosome 17 in neoplasms with an i(17q)

1 reference

12 December 2020

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

12 December 2020

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.82802

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997339%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997339%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference