(Q47073320)

5 January 2018

http://europepmc.org/abstract/MED/25282101

title

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm (English)

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25282101

1 reference

Pascal de Santa Barbara

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jeroen Bakkers

33

1 reference

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4 June 2020

Sandrine Faure

20

1 reference

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4 June 2020

Steven Jones

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

26

Claudia Moreau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Philippe Chetaille

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Christoph Preuss

2

1 reference

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4 June 2020

Silja Burkhard

3

1 reference

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4 June 2020

Jean-Marc Côté

4

1 reference

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4 June 2020

Christine Houde

5

1 reference

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4 June 2020

Julie Castilloux

6

1 reference

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4 June 2020

Jessica Piché

7

1 reference

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4 June 2020

Natacha Gosset

8

1 reference

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4 June 2020

Séverine Leclerc

9

1 reference

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4 June 2020

Florian Wünnemann

10

1 reference

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4 June 2020

Maryse Thibeault

11

1 reference

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4 June 2020

Carmen Gagnon

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Antonella Galli

13

1 reference

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4 June 2020

Elizabeth Tuck

14

1 reference

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4 June 2020

Gilles R Hickson

15

1 reference

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4 June 2020

Nour El Amine

16

1 reference

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4 June 2020

Ines Boufaied

17

1 reference

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4 June 2020

Emmanuelle Lemyre

18

1 reference

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4 June 2020

Anders Jonzon

21

1 reference

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4 June 2020

Michel Cameron

22

1 reference

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4 June 2020

Harry C Dietz

23

1 reference

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4 June 2020

Elena Gallo-McFarlane

24

1 reference

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4 June 2020

D Woodrow Benson

25

1 reference

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4 June 2020

Damian Labuda

27

1 reference

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4 June 2020

FORGE Canada Consortium

28

1 reference

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4 June 2020

Shing H Zhan

29

1 reference

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4 June 2020

Yaoqing Shen

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Michèle Jomphe

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Gregor Andelfinger

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

English

0 references

publication date

5 October 2014

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25282101

published in

Nature Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

1245-1249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

4 June 2020

cites work

1 reference

A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

21 January 2018

1 reference

Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel

21 January 2018

1 reference

Pacemaker channel dysfunction in a patient with sinus node disease

21 January 2018

1 reference

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

21 January 2018

1 reference

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

21 January 2018

1 reference

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

21 January 2018

1 reference

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

21 January 2018

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

HomozygosityMapper--an interactive approach to homozygosity mapping

21 January 2018

1 reference

Identity by descent: variation in meiosis, across genomes, and in populations

21 January 2018

1 reference

Atrial fibrosis and atrial fibrillation: the role of the TGF-β1 signaling pathway

21 January 2018

1 reference

Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut

21 January 2018

1 reference

Identification and functional characterization of cardiac pacemaker cells in zebrafish

21 January 2018

1 reference

Distinct phases of cardiomyocyte differentiation regulate growth of the zebrafish heart

21 January 2018

1 reference

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

21 January 2018

1 reference

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

21 January 2018

1 reference

RAD21 mutations cause a human cohesinopathy

21 January 2018

1 reference

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

21 January 2018

1 reference

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

21 January 2018

1 reference

Mutant Cohesin in Premature Ovarian Failure

21 January 2018

1 reference

Heterochromatin links to centromeric protection by recruiting shugoshin

21 January 2018

1 reference

Function and regulation of serine/threonine phosphatases in the healthy and diseased heart.

21 January 2018

1 reference

A CTCF-independent role for cohesin in tissue-specific transcription

21 January 2018

1 reference

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

21 January 2018

1 reference

The International HapMap Project

21 January 2018

1 reference

The structure of haplotype blocks in the human genome

21 January 2018

1 reference

ParseCNV integrative copy number variation association software with quality tracking.

21 January 2018

1 reference

CNVassoc: Association analysis of CNV data using R

21 January 2018

1 reference

Methods to detect biomarkers of cellular senescence: the senescence-associated beta-galactosidase assay

21 January 2018

1 reference

The RNA-binding protein RBPMS2 regulates development of gastrointestinal smooth muscle.

21 January 2018

1 reference

Activation of MAP kinase (ERK1/2) in human neonatal colonic enteric nervous system

21 January 2018

1 reference

High-resolution in situ hybridization to whole-mount zebrafish embryos

21 January 2018

1 reference

Sensitive nonradioactive detection of mRNA in tissue sections: novel application of the whole-mount in situ hybridization protocol

21 January 2018

1 reference

Voltage-gated sodium channels are required for heart development in zebrafish

21 January 2018

1 reference

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24

21 January 2018

1 reference

[Population files and database management: the BALSAC database and the INGRES/INGRID system]

21 January 2018

1 reference

12 December 2020

The concentric structure of the developing gut is regulated by Sonic hedgehog derived from endodermal epithelium.

1 reference

12 December 2020

Update on sick sinus syndrome, a cardiac disorder of aging

1 reference

12 December 2020

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

1 reference

12 December 2020

1 reference

12 December 2020

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

1 reference

12 December 2020

ALFRED: an allele frequency database for microevolutionary studies

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.3113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json

release_jbg3vy6jfvhhnapjxg2dy44fgm

4 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jbg3vy6jfvhhnapjxg2dy44fgm

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25282101%20AND%20SRC:MED&resulttype=core&format=json