(Q33658563)

English

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

38

object named as

Guy A Rouleau

0 references

Christine Van Broeckhoven

40

object named as

Christine Van Broeckhoven

0 references

Julie van der Zee

19

object named as

Julie van der Zee

0 references

Marka van Blitterswijk

3

object named as

Marka van Blitterswijk

0 references

Wouter van Rheenen

10

object named as

Wouter van Rheenen

0 references

Mariely DeJesus-Hernandez

28

object named as

Mariely DeJesus-Hernandez

0 references

Christian Kubisch

43

object named as

Christian Kubisch

0 references

object named as

Takuya Konno

29

0 references

Bradley N. Smith

object named as

Bradley Smith

13

0 references

object named as

Kevin Talbot

15

0 references

Vincenzo Silani

object named as

Vincenzo Silani

35

0 references

object named as

Osamu Onodera

9

0 references

Mamede de Carvalho

31

object named as

Mamede de Carvalho

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Christopher Shaw

object named as

Christopher E Shaw

37

0 references

object named as

Susana Pinto

11

0 references

Rosa Rademakers

41

object named as

Rosa Rademakers

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Leonard H van den Berg

39

object named as

Leonard H van den Berg

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

34

object named as

Jan H Veldink

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Peter M Andersen

42

object named as

Peter M Andersen

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Claire S Leblond

5

object named as

Claire S Leblond

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Marleen Van den Broeck

4

object named as

Marleen Van den Broeck

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

33

object named as

John E Landers

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

18

object named as

Antonia Ratti

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

22

object named as

Daniela Calini

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

21

object named as

Anna Birve

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

7

object named as

William Camu

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

16

object named as

Pamela Keagle

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Angelica Nordin

23

object named as

Angelica Nordin

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Alessandra Chesi

17

object named as

Alessandra Chesi

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

26

object named as

Hussein Daoud

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

36

object named as

Aaron D Gitler

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

32

object named as

Kevin Mouzat

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Chizuru Akimoto

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Alexander E Volk

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Serge Lumbroso

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Birgit Neitzel

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Markus Weber

12

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Melanie Proven

14

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Helena Alstermark

20

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Daniela C Tradowsky

24

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Walter Just

25

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Sabrina Angerbauer

27

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Anjali Lloyd-Jani

30

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

4 April 2014

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

51

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

419-424

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4033024

21 June 2018

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102360

21 January 2018

Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102360

21 January 2018

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102360

21 January 2018

Frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102360

21 January 2018

Identifiers

10.1136/JMEDGENET-2014-102360

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33658563&oldid=1833556341"