Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family (Q34733503)

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English	Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family	scientific article

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

title

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family (English)

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stated in

Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

author

Jeffery M. Vance

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9

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Yvonne J. Edwards

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5

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Michael Shy

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10

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Europe PubMed Central

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3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Stephan Züchner

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11

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Stephan Züchner

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Europe PubMed Central

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3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Gary W Beecham

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6

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Gary Beecham

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Jia Huang

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3

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Jia Huang

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

author name string

Gladys Montenegro

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1

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

Eric Powell

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2

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3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

Fiorella Speziani

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4

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

William Hulme

series ordinal

7

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

Carly Siskind

series ordinal

8

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Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

publication date

20 January 2011

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

published in

Annals of Neurology

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Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

volume

69

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

issue

3

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Europe PubMed Central

PMC publication ID

3066289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

page(s)

464-470

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Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

cites work

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

1 reference

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PubMed Central

reference URL

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7 July 2018

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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7 July 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease

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7 July 2018

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7 July 2018

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

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Connexin32 and X-linked Charcot–Marie–Tooth Disease

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

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21 January 2018

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

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21 January 2018

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

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PubMed

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inferred from PubMed ID database lookup

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21254193

retrieved

12 December 2020

based on heuristic

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3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21254193

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked Charcot-Marie-Tooth disease and connexin32

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21254193

retrieved

12 December 2020

based on heuristic

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Identifiers

DOI

10.1002/ANA.22235

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Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

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20 January 2020

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release_mhw2nyapcbcbxbw7ew25sx4t6i

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24 November 2022

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PMC publication ID

3066289

1 reference

stated in

Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

PubMed publication ID

21254193

1 reference

stated in

Europe PubMed Central

PMC publication ID

3066289

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21254193%20AND%20SRC:MED&resulttype=core&format=json

retrieved

20 January 2020

ResearchGate publication ID

49773670

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