(Q34580527)

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Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature

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Europe PubMed Central

PubMed publication ID

3 August 2017

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Europe PubMed Central

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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author name string

Kovach MJ

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Campbell KC

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Herman K

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Waggoner B

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Gelber D

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Hughes LF

6

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Europe PubMed Central

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3 August 2017

Kimonis VE

7

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Europe PubMed Central

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3 August 2017

publication date

1 April 2002

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Europe PubMed Central

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3 August 2017

American Journal of Medical Genetics Part A

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3 August 2017

108

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Europe PubMed Central

PubMed publication ID

3 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

295-303

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Europe PubMed Central

PubMed publication ID

3 August 2017

DNA extraction from formalin-fixed, paraffin-embedded tissues: protein digestion as a limiting step for retrieval of high-quality DNA.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Auditory function in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Direct detection of novel expanded trinucleotide repeats in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Auditory neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Fixed archival tissue. Purify DNA and primers for good PCR yield!

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Hereditary distal spinal muscular atrophy with vocal cord paralysis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Trinucleotide repeat expansion and human disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Family with Charcot-Marie-Tooth disease showing unusual biochemical-clinical and genetic features

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-1).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Phenotypic variation of a new P0 mutation in genetically identical twins

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10223

21 January 2018

Identifiers

10.1002/AJMG.10223

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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