(Q54394694)

29 May 2018

title

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement. (English)

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29 May 2018

author

Nam Keun Kim

2

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29 May 2018

author name string

Byung-Ok Choi

1

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29 May 2018

Sun Wha Park

3

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29 May 2018

Young Se Hyun

4

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29 May 2018

Hyeon Jeong Jeon

5

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29 May 2018

Jung Hee Hwang

6

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29 May 2018

Ki Wha Chung

7

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29 May 2018

publication date

31 December 2010

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29 May 2018

published in

Neurogenetics

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29 May 2018

volume

12

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29 May 2018

page(s)

51-58

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29 May 2018

issue

1

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29 May 2018

https://scigraph.springernature.com/pub.10.1007/s10048-010-0272-3

exact match

0 references

cites work

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

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Genome architecture, rearrangements and genomic disorders

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Mechanisms for human genomic rearrangements

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

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Fragile X repeats are potent inducers of complex, multiple site rearrangements in flanking sequences in Escherichia coli.

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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

21 January 2018

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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

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Reliability and validity of the CMT neuropathy score as a measure of disability.

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Sex-dependent rearrangements resulting in CMT1A and HNPP.

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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.

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A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

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Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements.

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Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

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

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Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

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12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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The clinical features of hereditary motor and sensory neuropathy types I and II

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Genomic and clinical characteristics of microduplications in chromosome 17

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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

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

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12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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12 December 2020

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management

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12 December 2020

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR

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12 December 2020

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

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12 December 2020

10.1007/S10048-010-0272-3

Identifiers

DOI

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29 May 2018

PubMed ID

21193943

1 reference

29 May 2018