Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication (Q35194948)

7 August 2017

title

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

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7 August 2017

Wise CA

1

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7 August 2017

Garcia CA

2

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7 August 2017

Davis SN

3

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7 August 2017

Heju Z

4

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7 August 2017

Pentao L

5

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7 August 2017

Patel PI

6

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7 August 2017

Lupski JR

7

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7 August 2017

language of work or name

English

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publication date

1 October 1993

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

53

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7 August 2017

issue

4

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7 August 2017

page(s)

853-863

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Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

7 August 2017

cites work

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13 July 2018

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Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

13 July 2018

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

13 July 2018

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Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

13 July 2018

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Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

13 July 2018

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A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

13 July 2018

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Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

13 July 2018

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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

13 July 2018

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Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

13 July 2018

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Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

13 July 2018

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Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

13 July 2018

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Hereditary motor and sensory neuropathies

13 July 2018

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Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids

13 July 2018

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

13 July 2018

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Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy

13 July 2018

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Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families

13 July 2018

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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

13 July 2018

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Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

13 July 2018

1 reference

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Phenotypic heterogeneity and the single gene

13 July 2018

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

13 July 2018

1 reference

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Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

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

13 July 2018

1 reference

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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

13 July 2018

1 reference

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Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

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

8 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682385

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

8 December 2018

1 reference

12 December 2020

A genetic map of human chromosome 17p

1 reference

12 December 2020

Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17

1 reference

12 December 2020

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus

1 reference

12 December 2020

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

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

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

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

PMC publication ID

1682385

1 reference

7 August 2017

1 reference