Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients (Q34385379)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545397%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

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

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10 November 2019

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1

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10 November 2019

author name string

P J Hastings

2

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10 November 2019

E Nelis

3

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10 November 2019

P De Jonghe

4

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10 November 2019

C Van Broeckhoven

5

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10 November 2019

J R Lupski

6

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10 November 2019

language of work or name

English

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publication date

1 May 1998

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American Journal of Human Genetics

10 November 2019

published in

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10 November 2019

volume

62

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10 November 2019

issue

5

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10 November 2019

page(s)

1023-1033

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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

10 November 2019

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1 reference

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6 July 2018

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

6 July 2018

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A purified mariner transposase is sufficient to mediate transposition in vitro

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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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

6 July 2018

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Identification of functional domains and evolution of Tc1-like transposable elements

6 July 2018

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

6 July 2018

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The mariner transposable element is widespread in insects

6 July 2018

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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

6 July 2018

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Old and new concepts for the role of chi in bacterial recombination

6 July 2018

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Molecular mechanism for genetic recombination

6 July 2018

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Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

6 July 2018

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Homology requirement for efficient gene conversion between duplicated chromosomal sequences in mammalian cells

6 July 2018

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Homologous recombination in Escherichia coli: dependence on substrate length and homology

6 July 2018

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6 July 2018

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Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

6 July 2018

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A multigene deletion in the human IGH constant region locus involves highly homologous hot spots of recombination.

6 July 2018

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

6 July 2018

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6 July 2018

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Characterization of double-strand break-induced recombination: homology requirements and single-stranded DNA formation

6 July 2018

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6 July 2018

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6 July 2018

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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

27 October 2018

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

27 October 2018

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27 October 2018

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27 October 2018

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Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

27 October 2018

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12 December 2020

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

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12 December 2020

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

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12 December 2020

Intra-chromosomal gene conversion induced by a DNA double-strand break in Saccharomyces cerevisiae

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12 December 2020

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1086/301827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545397%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9545397%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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