Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
about
Genetics of inherited primary arrhythmia disordersDeterminants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromesGenetics of Brugada syndromeThe RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading framMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testingLong QT syndrome in South Africa: the results of comprehensive genetic screening.Drug-induced QT interval shortening: potential harbinger of proarrhythmia and regulatory perspectives.LQTS gene LOVD databasePhenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.Prevalence of Significant Genetic Variants in Congenital Long QT Syndrome is Largely Underestimated.Use of whole exome sequencing for the identification of Ito-based arrhythmia mechanism and therapy.Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Genetic screening in sudden cardiac death in the young can save future livesDrosophila ryanodine receptors mediate general anesthesia by halothaneWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease.An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.A comparison of genetic findings in sudden cardiac death victims and cardiac patients: the importance of phenotypic classification.Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening.Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.Causes of hearing impairment in the Norwegian paediatric cochlear implant program.Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.The Prevalence of Mutations inKCNQ1, KCNH2,andSCN5Ain an Unselected National Cohort of Young Sudden Unexplained Death CasesLong QT testing: implications for complex diagnosis in personalized medicineGenetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
P2860
Q26783570-1F45975E-68B1-4054-B2AB-E82258BEA5C2Q27030767-F31982C2-B9FA-4041-AE5B-054039552DF6Q28074918-82C2EE77-2167-4CD0-9DED-0E1D3A626DBEQ28265202-F1890EC0-840F-4FF5-BAE1-B9BF324D09BBQ31153701-CEAF6E8C-6CAC-47CC-83B9-12E4A146336DQ33161944-45BAD1FA-0CDC-4566-BEE9-B220583E1143Q33163516-80B0861D-D277-4E60-BF27-B1416987F55AQ33661027-0464B833-CA7F-42DE-A9BE-654585C90D5EQ34135397-55AE8233-E1F7-440F-8746-9E62566207A1Q35098220-0881863E-4783-4CDD-8EB5-2924CB7BF330Q35917036-DE7F6A77-21A2-49D6-8133-854320FEF200Q36141339-949F1BC5-F2C9-471C-9742-9E43FA1DD9E4Q36403915-54EF59F9-223E-40D3-B301-CCC111812F2BQ36460505-D1C5BAFE-27D9-4DDA-AF05-389DA443A1EAQ36631648-07A60BA4-BFFA-41CF-A6CF-02619216C545Q37187461-64D59E83-E215-45DD-B631-802B6EB937BDQ37385366-E1032870-07C9-4400-94E2-715FED15DF99Q37651406-7BCCA236-1C5E-42B4-A89B-EAFC199B9B24Q38262818-54D16105-CC2A-426D-8029-3C512441178BQ42385975-37295DB7-F71A-42CD-9E4E-66C974DC55DFQ43182612-B6EDE0CA-37B3-410B-BCD8-CD2AA8BC08AFQ44858003-B950A84C-87A4-43D2-B17F-42BC7062C38CQ48105793-CAA6814A-C2DD-4C8E-9056-0E6D295215DBQ50437687-22C8F931-0483-4874-ACAB-36F96DC72EE7Q50977982-B5775F52-C2AC-481C-9544-E9E9E60291DEQ53933933-AE1337C4-D7CB-4CF8-A430-F861AFD5896EQ57682751-37BBBD2D-44AC-40E7-8509-905CE4467949Q57744794-1B342067-6FF8-4FB8-AA2C-34F72A6B6425Q58129783-0A7132CE-301E-4A13-A17E-432F87A2E122
P2860
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
description
2008 nî lūn-bûn
@nan
2008 թուականին հրատարակուած գիտական յօդուած
@hyw
2008 թվականին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Molecular genetic analysis of ...... heterozygous mutation carriers
@ast
Molecular genetic analysis of ...... heterozygous mutation carriers
@en
Molecular genetic analysis of ...... heterozygous mutation carriers
@nl
type
label
Molecular genetic analysis of ...... heterozygous mutation carriers
@ast
Molecular genetic analysis of ...... heterozygous mutation carriers
@en
Molecular genetic analysis of ...... heterozygous mutation carriers
@nl
prefLabel
Molecular genetic analysis of ...... heterozygous mutation carriers
@ast
Molecular genetic analysis of ...... heterozygous mutation carriers
@en
Molecular genetic analysis of ...... heterozygous mutation carriers
@nl
P2093
P2860
P3181
P1476
Molecular genetic analysis of ...... heterozygous mutation carriers
@en
P2093
A Carlsson
E Kongsgård
K H Haugaa
M Hallerud
P2860
P3181
P356
10.1080/00365510701765643
P407
P577
2008-01-01T00:00:00Z