Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. (Q34046894)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20570968%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome (English)

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6 February 2020

1

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6 February 2020

author name string

Ninette Cohen

2

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6 February 2020

Tracy Brandt

3

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6 February 2020

Peter E Warburton

4

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6 February 2020

Lisa Edelmann

5

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6 February 2020

publication date

22 June 2010

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6 February 2020

published in

Human Molecular Genetics

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6 February 2020

volume

19

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6 February 2020

issue

17

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6 February 2020

page(s)

3383-3393

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LINE dancing in the human genome: transposable elements and disease

6 February 2020

cites work

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Inverted repeat structure of the human genome: the X-chromosome contains a preponderance of large, highly homologous inverted repeats that contain testes genes

5 July 2018

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Breakpoints of gross deletions coincide with non-B DNA conformations

5 July 2018

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

5 July 2018

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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

5 July 2018

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

5 July 2018

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Genome architecture catalyzes nonrecurrent chromosomal rearrangements

5 July 2018

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The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

5 July 2018

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5 July 2018

Mammalian retroelements.

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Recent segmental duplications in the human genome

5 July 2018

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Segmental duplications and the evolution of the primate genome

5 July 2018

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Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes

5 July 2018

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Fusions of the SYT and SSX genes in synovial sarcoma

5 July 2018

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

5 July 2018

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Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis

5 July 2018

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Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia

5 July 2018

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A common molecular basis for rearrangement disorders on chromosome 22q11

5 July 2018

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Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

5 July 2018

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Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

5 July 2018

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Inverted repeats, stem-loops, and cruciforms: significance for initiation of DNA replication

5 July 2018

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5 July 2018

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Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.

5 July 2018

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Turner syndrome: the case of the missing sex chromosome

5 July 2018

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Chromosomal aberrations in soft tissue tumors. Relevance to diagnosis, classification, and molecular mechanisms.

5 July 2018

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Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature

5 July 2018

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Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma

5 July 2018

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The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

5 July 2018

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Turner syndrome: spontaneous growth in 150 cases and review of the literature

5 July 2018

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Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences

5 July 2018

1 reference

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Human genome organization: Alu, LINES, and the molecular structure of metaphase chromosome bands

5 July 2018

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Pericentromeric structure of human X "isochromosomes": evidence for molecular heterogeneity

5 July 2018

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Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

5 July 2018

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A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation

5 July 2018

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Dicentric X isochromosomes in man

5 July 2018

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Stable dicentric X chromosomes with two functional centromeres.

5 July 2018

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

21 January 2018

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Copy number variation at the breakpoint region of isochromosome 17q.

21 January 2018

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Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee.

21 January 2018

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The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

21 January 2018

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Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

21 January 2018

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Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination.

21 January 2018

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Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis

28 October 2018

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12 December 2020

Paternal or maternal origin of human i(Xq) isochromosomes

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12 December 2020

Molecular studies of the parental origin and nature of human X isochromosomes

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12 December 2020

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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12 December 2020

Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes

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12 December 2020

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

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12 December 2020

Characteristic sequence motifs located at the genomic breakpoints of the translocation t(X;18) in synovial sarcomas

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12 December 2020

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

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12 December 2020

Molecular characterization of isochromosomes of Xq

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12 December 2020

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12 December 2020

Chromosomal and clinical findings in 110 females with Turner syndrome

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12 December 2020

The pattern of gene amplification is determined by the chromosomal location of hairpin-capped breaks

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20570968%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20570968%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20570968

1 reference