(Q34050961)

30 July 2017

title

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) (English)

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.07.002

14 June 2024

16

Hiroki Kurahashi

1 reference

30 July 2017

2

Takema Kato

1 reference

30 July 2017

6

Ying Zou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

author name string

Chad Haldeman-Englert

3

1 reference

30 July 2017

Ruediger Klaes

7

1 reference

30 July 2017

Georgio Gimelli

8

1 reference

30 July 2017

Stefania Gimelli

9

1 reference

30 July 2017

Julia Brown

13

1 reference

30 July 2017

David Tomkins

14

1 reference

30 July 2017

Molly B. Sheridan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

G. Reza Jalali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Jeff M. Milunsky

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Robert M. Gemmill

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Harry A. Drabkin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

April M. Hacker

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Tamim H. Shaikh

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Elaine H. Zackai

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

Beverly S. Emanuel

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

14 June 2024

language of work or name

English

0 references

publication date

30 July 2010

1 reference

full work available at URL

30 July 2017

http://www.cell.com/article/S0002929710003587/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20673865/?tool=EBI

14 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20673865/pdf/?tool=EBI

14 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://europepmc.org/articles/PMC2917714

14 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://europepmc.org/articles/PMC2917714?pdf=render

14 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://doi.org/10.1016/j.ajhg.2010.07.002

14 June 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20673865

https://api.elsevier.com/content/article/PII:S0002929710003587?httpAccept=text/xml

14 June 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.07.002

https://api.elsevier.com/content/article/PII:S0002929710003587?httpAccept=text/plain

14 June 2024

1 reference

Crossref

https://api.crossref.org/works/10.1016/J.AJHG.2010.07.002

American Journal of Human Genetics

14 June 2024

published in

1 reference

30 July 2017

volume

87

1 reference

30 July 2017

issue

2

1 reference

30 July 2017

page(s)

209-218

1 reference

Paternal origin of the de novo constitutional t(11;22)(q23;q11).

30 July 2017

cites work

1 reference

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The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways

5 July 2018

1 reference

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The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

5 July 2018

1 reference

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The diploid genome sequence of an Asian individual

5 July 2018

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The complete genome of an individual by massively parallel DNA sequencing

5 July 2018

1 reference

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The diploid genome sequence of an individual human

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma

5 July 2018

1 reference

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A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Meiotic recombination and spatial proximity in the etiology of the recurrent 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=2917714

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=2917714

Palindromes and genomic stress fractures: bracing and repairing the damage

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

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=2917714

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=2917714

Rapid, Stabilizing Palindrome Rearrangements in Somatic Cells by the Center-Break Mechanism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

The constitutional t(17;22): another translocation mediated by 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=2917714

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) 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=2917714

The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

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=2917714

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=2917714

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=2917714

The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

5 July 2018

1 reference

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The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Partial trisomy 8 (8q24) and the trisomy-8 syndrome.

5 July 2018

1 reference

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Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Chromosome 8 : complete trisomy and segmental trisomies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

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

28 October 2018

1 reference

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Size-dependent palindrome-induced intrachromosomal recombination in yeast.

28 October 2018

1 reference

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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.

28 October 2018

1 reference

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Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917714

Chromosome analysis in couples with recurrent abortions

28 October 2018

1 reference

12 December 2020

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I

1 reference

12 December 2020

Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1)

1 reference

12 December 2020

Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybrid

1 reference

12 December 2020

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

1 reference

12 December 2020

Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma

1 reference

12 December 2020

The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)

1 reference

12 December 2020

Constitutional t(8;22) in a patient with myasthenia gravis, leukocytosis, and thrombocytosis

1 reference

12 December 2020

Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation

1 reference

12 December 2020

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

1 reference

12 December 2020

Meiotic segregation in familial reciprocal translocation t(8q;22q)

1 reference

12 December 2020

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome

1 reference

12 December 2020

Identifiers

1 reference

30 July 2017

1 reference

30 July 2017

1 reference