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Article

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

Cytogenetics and cell genetics - 1 Jan 1994

Le Guern E, Sturtz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud P M, Tardieu S, Bouche P, Chazot G

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy which is characterized by recurrent episodes of truncular palsies. We have analyzed the D17S122 locus in 7 French families, including 18 affected members, with microsatellite RM11GT and the RFLP probe VAW409R3a. Only one allele could be detected in all affected individuals with the highly polymorphic...

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PMID: 7903071
DOI: 10.1159/000133643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).PMID 7903071Read ↗

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

[Hereditary neuropathy with liability to pressure palsies caused by 17p11.2 chromosome deletion].Semantic proximity Read ↗

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.Semantic proximity Read ↗

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

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Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

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

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion.Semantic proximity Read ↗

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.Semantic proximity Read ↗

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].Semantic proximity Read ↗

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