Identification of Alu elements mediating a partial PMP22 deletion (Q57987139)

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Kathrin Huehne

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Claudia Sommer

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Sibylle Jakubiczka

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Bernd Rautenstrauss

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

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publication date

29 March 2006

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published in

Neurogenetics

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volume

7

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issue

2

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page(s)

119-126

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cites work

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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

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

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12 December 2020

Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies

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12 December 2020

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

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12 December 2020

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

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12 December 2020

Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication

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12 December 2020

Mechanism and regulation of human non-homologous DNA end-joining

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12 December 2020

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

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12 December 2020

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

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12 December 2020

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.

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12 December 2020

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

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12 December 2020

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

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12 December 2020

Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers

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12 December 2020

Overview of hereditary neuropathy with liability to pressure palsies

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12 December 2020

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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12 December 2020

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

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12 December 2020

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

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12 December 2020

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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12 December 2020

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

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12 December 2020

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

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12 December 2020