(Q33904434)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20392709%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm (English)

1 reference

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31 January 2020

5

1 reference

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31 January 2020

10

Hiroki Kurahashi

1 reference

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31 January 2020

4

Hidehito Inagaki

1 reference

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31 January 2020

7

Makiko Tsutsumi

1 reference

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31 January 2020

6

Tamae Ohye

1 reference

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31 January 2020

2

Takema Kato

1 reference

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31 January 2020

author name string

Maoqing Tong

1

1 reference

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31 January 2020

Kouji Yamada

3

1 reference

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31 January 2020

Jieru Wang

8

1 reference

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31 January 2020

Beverly S Emanuel

9

1 reference

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31 January 2020

publication date

13 April 2010

1 reference

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31 January 2020

published in

Human Molecular Genetics

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31 January 2020

volume

19

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31 January 2020

issue

13

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31 January 2020

page(s)

2630-2637

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20392709%20AND%20SRC:MED&resulttype=core&format=json

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

31 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Mutation rate variation in multicellular eukaryotes: causes and consequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Palindrome-mediated chromosomal translocations in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Chromosomal translocations mediated by palindromic DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Genetic variation affects de novo translocation frequency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Breakpoints of gross deletions coincide with non-B DNA conformations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Evidence for two mechanisms of palindrome-stimulated deletion in Escherichia coli: single-strand annealing and replication slipped mispairing.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

The DNA sequence of human chromosome 22

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Molecular cloning of a translocation breakpoint hotspot in 22q11.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2883341

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

29 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements

1 reference

12 December 2020

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20392709%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20392709%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

20392709

1 reference