(Q70888912)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8557256%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

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

1 reference

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hereditary neuropathy with liability to pressure palsies

14 October 2019

main subject

0 references

author name string

V Timmerman

1

1 reference

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14 October 2019

A Löfgren

2

1 reference

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14 October 2019

E Le Guern

3

1 reference

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14 October 2019

P Liang

4

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14 October 2019

P De Jonghe

5

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14 October 2019

J J Martin

6

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14 October 2019

D Verhalle

7

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14 October 2019

W Robberecht

8

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14 October 2019

R Gouider

9

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14 October 2019

A Brice

10

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14 October 2019

C Van Broeckhoven

11

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14 October 2019

publication date

1 January 1996

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14 October 2019

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14 October 2019

volume

97

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14 October 2019

page(s)

26-34

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14 October 2019

issue

1

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https://scigraph.springernature.com/pub.10.1007/bf00218828

14 October 2019

exact match

0 references

cites work

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1 reference

12 December 2020

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1 reference

12 December 2020

A genetic map of human chromosome 17p

1 reference

12 December 2020

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

12 December 2020

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

1 reference

12 December 2020

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization

1 reference

12 December 2020

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Separation of large DNA molecules by contour-clamped homogeneous electric fields

1 reference

12 December 2020

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

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

1 reference

12 December 2020

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1

1 reference

12 December 2020

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

1 reference

12 December 2020

The 1993-94 Généthon human genetic linkage map

1 reference

12 December 2020

A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region

1 reference

12 December 2020

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary pressure-sensitive neuropathy

1 reference

12 December 2020

Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques

1 reference

12 December 2020

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

12 December 2020

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

1 reference

12 December 2020

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Recurrent peripheral nerve palsies in a family

1 reference

12 December 2020

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

1 reference

12 December 2020

1 reference

12 December 2020

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8557256%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference