Results 161 to 170 of about 4,944 (184)

Abstract 4147136: Functional Consequences and Phenotypic Manifestations of KCNJ2 Variants in Andersen-Tawil Syndrome

Circulation
Introduction: Andersen-Tawil Syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, skeletal abnormalities, and elongated QTc.
Cassandra M. Hartle, I. Dinsmore, T. Mirshahi, Jonathan Z. Luo, Robert Mangano, B. Moore   +5 more
semanticscholar   +1 more source

Abstract 4115542: Female patients with Andersen-Tawil Syndrome are more prone to develop cardiac arrest.

Circulation
Background: Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder characterized by a triad of dysmorphic features, periodic muscular weakness, and ventricular arrhythmias. We presented a meta-analysis of cardiologic-affected ATS patients.
Alan Garcia, R. Lemus-Zamora, Richard Salama Frisbie, Sai Sri Venkata Yeshwanth Damalapati, Abdul Mueez Alam Kayani, Jorge Gomez Flores   +5 more
semanticscholar   +1 more source

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

European Journal of Neurology, 2022
R. Villar-Quiles, D. Sternberg, G. Tredez, N. Romero, T. Evangelista, P. Laforêt, P. Cintas, G. Solé, S. Sacconi, S. Bendahhou, J. Franques, C. Cances, J. Noury, E. Delmont, P. Blondy, L. Perrin, M. Hezode, E. Fournier, B. Fontaine, T. Stojkovic, S. Vicart   +20 more
semanticscholar   +1 more source

Andersen-Tawil syndrome

Drugs of the Future, 2008
null Dulsat, C., null Mealy, N.
openaire   +1 more source

Clinical heterogeneity in Andersen-Tawil syndrome

Neuromuscular Disorders, 2017
Armando, Totomoch-Serra, Manlio F, Márquez, David E, Cervantes-Barragan   +2 more
openaire   +2 more sources

Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.

European Journal of Medical Genetics, 2022
Ayşe Ünal Yüksekgönül, E. Azak, Akçahan Akalın, I. Ertugrul, E. Kılıç, G. Utine, T. Karagöz   +6 more
semanticscholar   +1 more source

Andersen-Tawil Syndrome

2014
Martin Tristani-Firouzi, Rabi Tawil
openaire   +1 more source

Andersen-Tawil syndrome: A review of literature

Neurology India, 2015
Sachin Suresh, Babu, Gaurav Bhaskar, Nigam, C Sudhir, Peter, C Shobhna, Peter   +3 more
openaire   +2 more sources

Andersen-Tawil Syndrome

2009
Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan   +199 more
openaire   +1 more source

Anesthetic Management In Andersen Tawil Syndrome

Andersen Tawil sendromu kardiyak disritmi, periyodik paralizi ve gelişim deformiteleriyle karakterize olan nadir görülen genetik bir hastalıktır. Sendromda gözlenen kardiyak bulgular ventriküler aritmi %84 , uzun QT sendromu %50 , anormal TU dalga paterni %73 ve ani kardiyak arresttir %10 .
KOÇYİĞİT, Muharrem, AKPEK, Elif, GÜNEŞ, Candemir, ŞİRİN, Fatih   +3 more
openaire   +1 more source