Search Results - "FOSDAL, Inger"

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death by NYEGAARD, Mette, OVERGAARD, Michael T, FOSDAL, Inger, CHRISTIANSEN, Michael, BØRGLUM, Anders D, SØNDERGAARD, Mads T, VRANAS, Marta, BEHR, Elijah R, HILDEBRANDT, Lasse L, LUND, Jacob, HEDLEY, Paula L, CAMM, A. John, WETTRELL, Göran

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest…”
Get full text

Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome by Winbo, Annika, Fosdal, Inger, Lindh, Maria, Diamant, Ulla-Britt, Persson, Johan, Wettrell, Göran, Rydberg, Annika

“…BACKGROUND—Early diagnosis and risk stratification is of clinical importance in the long QT syndrome (LQTS), however, little genotype-specific data are…”
Get full text

Mutations in the HERG K +-ion channel: A novel link between long QT syndrome and sudden infant death syndrome by Christiansen, Michael, Tønder, Niels, Larsen, Lars A., Andersen, Paal S., Simonsen, Henrik, Øyen, Nina, Kanters, Jørgen K., Jacobsen, Joes R., Fosdal, Inger, Wettrell, Gøran, Kjeldsen, Keld

“…In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine–to–glutamic…”
Get full text

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene by Larsen, L A, Fosdal, I, Andersen, P S, Kanters, J K, Vuust, J, Wettrell, G, Christiansen, M

“…We describe a Swedish family with the proband and his brother suffering from severe Romano-Ward syndome (RWS) associated with compound heterozygosity for two…”
Get full text

Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity by GRIGELIONIENE, Giedre, SCHOUMANS, Jacqueline, NILSSON, Nils Östen, ELFVING, Maria, ELLIS, Ian, ANDERLID, Britt-Marie, FRANSSON, Ingegerd, TAPIA-PAEZ, Isabel, NORDENSKJÖLD, Magnus, HAGENÄS, Lars, DUMANSKI, Jan P, NEUMEYER, Lo, IVARSSON, Sten Anders, EKLÖF, Ole, ENKVIST, Ove, TORDAI, Paul, FOSDAL, Inger, MYHRE, Anne Grethe, WESTPHAL, Otto

“…Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic…”
Get full text