(Q42113493)

16 October 2017

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy (English)

1 reference

16 October 2017

15

James R Lupski

1 reference

16 October 2017

1

Christina DiVincenzo

1 reference

16 October 2017

3

Adam C Medeiros

1 reference

16 October 2017

Christopher D Elzinga

2

1 reference

16 October 2017

Izabela Karbassi

4

1 reference

16 October 2017

Jeremiah R Jones

5

1 reference

16 October 2017

Matthew C Evans

6

1 reference

16 October 2017

Corey D Braastad

7

1 reference

16 October 2017

Crystal M Bishop

8

1 reference

16 October 2017

Malgorzata Jaremko

9

1 reference

16 October 2017

Zhenyuan Wang

10

1 reference

16 October 2017

Khalida Liaquat

11

1 reference

16 October 2017

Carol A Hoffman

12

1 reference

16 October 2017

Michelle D York

13

1 reference

16 October 2017

Sat D Batish

14

1 reference

16 October 2017

Joseph J Higgins

16

1 reference

16 October 2017

21 August 2014

1 reference

Molecular genetics & genomic medicine

16 October 2017

1 reference

16 October 2017

2

1 reference

16 October 2017

6

1 reference

16 October 2017

522-529

1 reference

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Human genome sequencing in health and disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

A framework for variation discovery and genotyping using next-generation DNA sequencing data

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Fast and accurate long-read alignment with Burrows-Wheeler transform

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnosti

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodia

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

A large genome center's improvements to the Illumina sequencing system

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

MLPA and MAPH: sensitive detection of deletions and duplications

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Charcot-Marie-Tooth disease and related peripheral neuropathies

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Measurement of locus copy number by hybridisation with amplifiable probes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

Inherited neuropathies: from gene to disease.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303222

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25614874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.106

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

25614874

1 reference