(Q48066076)

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15 October 2019

title

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

1 reference

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15 October 2019

1

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15 October 2019

author name string

Murakami T

2

1 reference

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15 October 2019

Koeuth T

3

1 reference

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15 October 2019

Pentao L

4

1 reference

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15 October 2019

Muzny DM

5

1 reference

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15 October 2019

Gibbs RA

6

1 reference

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15 October 2019

Lupski JR

7

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15 October 2019

language of work or name

English

0 references

publication date

1 March 1996

1 reference

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15 October 2019

1 reference

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15 October 2019

volume

12

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15 October 2019

issue

3

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15 October 2019

page(s)

288-297

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De-novo mutation in hereditary motor and sensory neuropathy type I.

15 October 2019

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Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

21 January 2018

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Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing

21 January 2018

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Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences

21 January 2018

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Basic local alignment search tool

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The mariner transposable element is widespread in insects

21 January 2018

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Mariner transposons in humans

21 January 2018

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

21 January 2018

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Horizontal transmission, vertical inactivation, and stochastic loss of mariner-like transposable elements

21 January 2018

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Physical mapping of chromosome 17 cosmids by fluorescence in situ hybridization and digital image analysis

21 January 2018

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

21 January 2018

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

21 January 2018

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7 January 2021

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

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7 January 2021

Recurrent peripheral nerve palsies in a family

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7 January 2021

Molecular genetics of Charcot-Marie-Tooth neuropathy

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7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

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7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

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7 January 2021

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

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7 January 2021

Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

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7 January 2021

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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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

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7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

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7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

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7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

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7 January 2021

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

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7 January 2021

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

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7 January 2021

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

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7 January 2021

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

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7 January 2021

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

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7 January 2021

A comprehensive set of sequence analysis programs for the VAX

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7 January 2021

Novel families of interspersed repetitive elements from the human genome

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7 January 2021

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

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7 January 2021

BEAUTY: an enhanced BLAST-based search tool that integrates multiple biological information resources into sequence similarity search results

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7 January 2021

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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7 January 2021

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

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7 January 2021

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

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7 January 2021

Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells

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7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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7 January 2021

Identification of a new, abundant superfamily of mammalian LTR-transposons

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7 January 2021

Molecular structure of a somatically unstable transposable element in Drosophila

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7 January 2021

Five major subfamilies of mariner transposable elements in insects, including the Mediterranean fruit fly, and related arthropods

1 reference

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7 January 2021

Evidence for interspecific transfer of the transposable element mariner between Drosophila and Zaprionus

1 reference

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7 January 2021

A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings

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7 January 2021

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0396-288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8589720%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference