Florence Fellmann
University of Lausanne
Publications 50
#1Florence Fellmann (UNIL: University of Lausanne)H-Index: 16
#2Emmanuelle Rial-Sebbag (Paul Sabatier University)H-Index: 10
Last.Francesca Forzano (Guy's and St Thomas' NHS Foundation Trust)H-Index: 19
view all 9 authors...
#1Jean-Marc Good (UNIL: University of Lausanne)H-Index: 1
#2Florence Fellmann (UNIL: University of Lausanne)H-Index: 16
Last.Jürg Schläpfer (UNIL: University of Lausanne)H-Index: 7
view all 6 authors...
#1Florence Fellmann (UNIL: University of Lausanne)H-Index: 16
#2Carla G. van El (PHRI: Public Health Research Institute)H-Index: 13
Last.Martina C. Cornel (PHRI: Public Health Research Institute)H-Index: 7
view all 23 authors...
Sudden cardiac death (SCD) accounts for 10–20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendation...
Sudden cardiac death (SCD) or syncope may remain unexplained after extensive cardiac investigations. However, genetic testing may help to establish a clear diagnosis in a substantial proportion of these cases. We here report our experience in 5 patients referred for SCD or syncope of unknown origin, in whom the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) was given by genetic testing. The studied population encompasses 5 patients (3 females) mean age: 39.8 ± 12.3y (2...
Multidisciplinary cardiogenetic consulting offers a global clinical approach to patients suffering from channelopathies or hereditary cardiomyopathies. Mutation is discovered in around 50 % of the cases. Several experts are working together to bring probands and their families useful and necessary informations to help them understanding causes, consequences and support of their disease. This approach is developped in close collaboration with the treating physician.
#1Boutaina Zemrani (UNIL: University of Lausanne)H-Index: 1
#2Francois Cachat (UNIL: University of Lausanne)H-Index: 11
Last.Hassib Chehade (UNIL: University of Lausanne)H-Index: 10
view all 7 authors...
Background Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype–phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in the LAMB2 gene, associated with a severe phenotype presentation.
#1Daniel C. Pipilas (NU: Northwestern University)H-Index: 1
#2Christopher N. Johnson (Vandy: Vanderbilt University)H-Index: 8
Last.Alfred L. George (NU: Northwestern University)H-Index: 78
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Background Calmodulin (CaM) mutations are associated with cardiac arrhythmia susceptibility including congenital long QT syndrome (LQTS). Objective The purpose of this study was to determine the clinical, genetic, and functional features of 2 novel CaM mutations in children with life-threatening ventricular arrhythmias. Methods The clinical and genetic features of 2 congenital arrhythmia cases associated with 2 novel CaM gene mutations were ascertained. Biochemical and functional investigations ...
#1Karim Abid (CHUV: University Hospital of Lausanne)
#2Katayoun Afshar (CHUV: University Hospital of Lausanne)
Last.Eric Grouzmann (CHUV: University Hospital of Lausanne)H-Index: 33
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A 51-year-old woman consulting within the framework of investigation for abdominal discomfort, nausea, and vomiting underwent a computed tomography examination that revealed a well-delimited right adrenal heterogeneous mass measuring 8.2 × 8.3 cm with a native density of 40 Hounsfield units (HU)8. An 18F-deoxyglucose positron emission tomography scan showed a hypercaptation on the adrenal tumor of 7.4 SUVmax. Apart from these symptoms, the patient had no other complaint. Familial history was unr...
#1Florence Fellmann (UNIL: University of Lausanne)H-Index: 16
#2F Angelini (UNIL: University of Lausanne)H-Index: 4
Last.Michael Hofer (UNIL: University of Lausanne)H-Index: 29
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Background Data on patients affected by chronic mucocutaneous candidiasis underscore the preponderant role of IL-17 receptor A (IL-17RA) in preserving mucocutaneous immunity. Little is known about the role of adenosine deaminase (ADA) 2 in regulation of immune responses, although recent reports linked ADA2 deficiency with inflammation and vasculitis. Objective We sought to investigate the mechanisms of chronic inflammation and vasculitis in a child lacking IL-17RA and ADA2 to identify therapeuti...