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Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome.
- Published in:
- EP: Europace, 2023, v. 25, n. 11, p. 1, doi. 10.1093/europace/euad319
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- Publication type:
- Article
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
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- EP: Europace, 2012, v. 14, n. 12, p. 1799, doi. 10.1093/europace/eus111
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- Publication type:
- Article
Cardiac response to water activities in children with Long QT syndrome type 1.
- Published in:
- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0295431
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- Publication type:
- Article
Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0435-2
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- Publication type:
- Article
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome.
- Published in:
- Cardiology in the Young, 2013, v. 23, n. 3, p. 325, doi. 10.1017/S1047951112001060
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- Publication type:
- Article
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
- Published in:
- BMC Cardiovascular Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2261-14-22
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- Publication type:
- Article
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
- Published in:
- 2014
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- Publication type:
- journal article
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
- Published in:
- BMC Cardiovascular Disorders, 2012, v. 12, n. 1, p. 95, doi. 10.1186/1471-2261-12-95
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- Publication type:
- Article
Vectorcardiographic Recordings of the Q-T Interval in a Pediatric Long Q-T Syndrome Population.
- Published in:
- Pediatric Cardiology, 2013, v. 34, n. 2, p. 245, doi. 10.1007/s00246-012-0425-2
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- Publication type:
- Article
To Modify or Not to Modify: Allele-Specific Effects of 3'UTR- Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.
- Published in:
- 2022
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- Publication type:
- journal article