(Q37442080)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Prevalence of the congenital long-QT syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Lia Crotti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Fabio Mosca

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Carla Spazzolini

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

author name string

Marco Stramba-Badiale

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Matteo Pedrazzini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alessandra Besana

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Giuliano Bosi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Fulvio Gabbarini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Karine Goulene

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Roberto Insolia

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Savina Mannarino

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Luigi Nespoli

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alessandro Rimini

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Enrico Rosati

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Patrizia Salice

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

language of work or name

English

0 references

publication date

19 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

page(s)

1761-1767

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Mutation of an A-kinase-anchoring protein causes long-QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Con: Newborn screening to prevent sudden cardiac death?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Pro: Newborn ECG screening to prevent sudden cardiac death

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Gene sequencing in neonates and infants with the long QT syndrome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

A common polymorphism associated with antibiotic-induced cardiac arrhythmia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

A molecular link between the sudden infant death syndrome and the long-QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

The long QT syndromes: genetic basis and clinical implications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Diagnostic criteria for the long QT syndrome. An update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

23 August 2017

The long Q-T syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Cardiac sodium channel dysfunction in sudden infant death syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Compound mutations: a common cause of severe long-QT syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Prolongation of the QT interval and the sudden infant death syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Cost-effectiveness of neonatal ECG screening for the long QT syndrome

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784143

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

3 December 2018

1 reference

12 December 2020

Molecular diagnosis in a child with sudden infant death syndrome

1 reference

12 December 2020

Guidelines for the interpretation of the neonatal electrocardiogram

1 reference

12 December 2020

How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

1 reference

12 December 2020

Low penetrance in the long-QT syndrome: clinical impact

1 reference

12 December 2020

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

12 December 2020

10.1161/CIRCULATIONAHA.109.863209

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19841298%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

19841298

1 reference