Lista de obras - Florence Kyndt - Dominio Público Uruguay

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

artículo científico publicado en 2012

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

scientific article published on 01 November 2016

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

artículo científico publicado en 2013

Cardiac conduction defects associate with mutations in SCN5A

artículo científico publicado en 1999

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

artículo científico publicado en 2013

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype

scientific article published on 01 March 2003

Dynamic analysis of the QT interval in long QT1 syndrome patients with a normal phenotype

artículo científico publicado en 2001

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

artículo científico publicado en 2017

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

artículo científico publicado en 2015

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

artículo científico publicado en 2003

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

scientific article published on 19 June 2012

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

article

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

artículo científico publicado en 1998

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

artículo científico publicado en 2012

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

artículo científico publicado en 2006

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

artículo científico publicado en 2015

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

artículo científico publicado en 2017

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

scientific article published on February 2009

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

artículo científico publicado en 2009

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

artículo científico publicado en 2018

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

artículo científico publicado en 2011

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern.

artículo científico publicado en 2008

Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.

artículo científico publicado en 2017

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

artículo científico publicado en 2017

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

artículo científico publicado en 2008

Value of the sodium-channel blocker challenge in Brugada syndrome

artículo científico

Lista de obras de Florence Kyndt

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

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

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

Cardiac conduction defects associate with mutations in SCN5A

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype

Dynamic analysis of the QT interval in long QT1 syndrome patients with a normal phenotype

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Sodium channel blocker tests allow a clear distinction of electrophysiological characteristics and prognosis in patients with a type 2 or 3 Brugada electrocardiogram pattern.

Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Value of the sodium-channel blocker challenge in Brugada syndrome