Works matching DE "ANDERSEN syndrome"

Results: 36

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Published in:

Basic Research in Cardiology, 2013, v. 108, n. 3, p. 1, doi. 10.1007/s00395-013-0353-1

By:

Limberg, Maren;
Zumhagen, Sven;
Netter, Michael;
Coffey, Alison;
Grace, Andrew;
Rogers, Jane;
Böckelmann, Doris;
Rinné, Susanne;
Stallmeyer, Birgit;
Decher, Niels;
Schulze-Bahr, Eric

Publication type:

Article

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.

Published in:

Application of Clinical Genetics, 2013, v. 6, p. 1, doi. 10.2147/TACG.S29676

By:

Pi-Yin Hsiao;
Hui-Chun Tien;
Chu-Pin Lo;
Jyh-Ming Jimmy Juang;
Yi-Hsin Wang;
Ruey J. Sung

Publication type:

Article

Up-Regulation of the Inwardly Rectifying K Channel Kir2.1 (KCNJ2) by Protein Kinase B (PKB/Akt) and PIKfyve.

Published in:

Journal of Membrane Biology, 2013, v. 246, n. 3, p. 189, doi. 10.1007/s00232-012-9520-9

By:

Munoz, Carlos;
Almilaji, Ahmad;
Setiawan, Iwan;
Föller, Michael;
Lang, Florian

Publication type:

Article

Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.

Published in:

FASEB Journal, 2012, v. 26, n. 2, p. 513, doi. 10.1096/fj.11-189126

By:

Seebohm, Guiscard;
Strutz-Seebohm, Nathalie;
Ursu, Oana N.;
Preisig-Müller, Regina;
Zuzarte, Marylou;
Hill, Elaine V.;
Bendahhou, Said;
Fauler, Michael;
Tapken, Daniel;
Decher, Niels;
Collins, Anthony;
Jurkat-Rott, Karin;
Steinmeyer, Klaus;
Lehmann-Horn, Frank;
Daut, Jürgen;
Tavaré, Jeremy M.;
Pott, Lutz;
Bloch, Wilhelm;
Lang, Florian;
Kienitz, Marie-Cécile

Publication type:

Article

Mitochondrial DNA polymorphisms in Andersen-Tawil syndrome.

Published in:

Polish Heart Journal / Kardiologia Polska, 2020, v. 78, n. 6, p. 581, doi. 10.33963/KP.15274

By:

Totomoch-Serra, Armando;
Brito-Carreón, Cesar A.;
Muñoz, Maria de L.;
Cervantes-Barragan, David;
Márquez, Manlio F.

Publication type:

Article

Komentarz do artykułu "Should a cardioverter- -defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?".

Published in:

Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 10, p. 994, doi. 10.5603/KP.2014.0204

By:

Biernacka, Elżbieta Katarzyna;
Kukla, Piotr

Publication type:

Article

Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?

Published in:

Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 8, p. 755, doi. 10.5603/KP.2014.0153

By:

Bienias, Piotr;
Kostera-Pruszczyk, Anna;
Bieganowska, Katarzyna;
Miszczak-Knecht, Maria;
Pruszczyk, Piotr

Publication type:

Article

Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2.

Published in:

Cardiology, 2011, v. 120, n. 4, p. 200, doi. 10.1159/000335529

By:

Modoni, Anna;
Bianchi, Maria Laura Ester;
Vitulano, Nicola;
Pagliarani, Serena;
Perna, Francesco;
Sanna, Tommaso;
Rizzo, Valentina;
Silvestri, Gabriella

Publication type:

Article

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43

By:

Díaz-Manera, Jordi;
Querol, Luis;
Alejaldre, Aída;
Rojas-García, Ricard;
Ramos-Fransi, Alba;
Gallardo, Eduard;
Illa, Isabel

Publication type:

Article

Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.

Published in:

Clinical Genetics, 2015, v. 87, n. 3, p. 279, doi. 10.1111/cge.12357

By:

Hasegawa, K.;
Ohno, S.;
Kimura, H.;
Itoh, H.;
Makiyama, T.;
Yoshida, Y.;
Horie, M.

Publication type:

Article

Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.

Published in:

2018

By:

Bienias, Piotr;
Kostera-Pruszczyk, Anna;
Miszczak-Knecht, Maria;
Ciurzyński, Michał;
Pruszczyk, Piotr

Publication type:

journal article

Implantable cardioverter defibrillator treatment in long QT syndrome patients: a national study on adherence to international guidelines.

Published in:

2017

By:

Sundström, Emilia;
Jensen, Steen M.;
Diamant, Ulla-Britt;
Rydberg, Annika

Publication type:

journal article

Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.

Published in:

2022

By:

Vivekanandam, Vinojini;
Männikkö, Roope;
Skorupinska, Iwona;
Germain, Louise;
Gray, Belinda;
Wedderburn, Sarah;
Kozyra, Damian;
Sud, Richa;
James, Natalie;
Holmes, Sarah;
Savvatis, Konstantinos;
Fialho, Doreen;
Merve, Ashirwad;
Pattni, Jatin;
Farrugia, Maria;
Behr, Elijah R;
Marini-Bettolo, Chiara;
Hanna, Michael G;
Matthews, Emma

Publication type:

journal article

Andersen-Tawil syndrome: A review of literature.

Published in:

2015

By:

Babu, Sachin Suresh;
Nigam, Gaurav Bhaskar;
Peter, C. Sudhir;
Peter, C. Shobhna

Publication type:

Letter

A pediatric case of Andersen–Tawil syndrome with slowly progressive myopathy.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15828

By:

Furukawa, Gen;
Yoshikane, Ayami;
Ishihara, Naoko;
Noda, Seiya;
Katsuno, Masahisa;
Yoshikawa, Tetsushi

Publication type:

Article

Reproducibility of corrected QT interval in pediatric genotyped long QT syndrome.

Published in:

Pediatrics International, 2016, v. 58, n. 11, p. 1246, doi. 10.1111/ped.13120

By:

Ogawa, Yoshiharu;
Tanaka, Toshikatsu;
Kido, Sachiko

Publication type:

Article

Síndrome de Andersen Tawil en una embarazada con alto riesgo de muerte súbita. Reporte de caso.

Published in:

Ginecología y Obstetricia de México, 2023, v. 91, n. 2, p. 126, doi. 10.24245/gom.v91i2.7716

By:

Ibargüengoitia-Ochoa, Francisco;
Aguinaga-Ríos, Mónica;
Pamela Landín-Ramírez, Luz;
Fernanda López-Torres, María

Publication type:

Article

Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome.

Published in:

Military Medicine, 2023, v. 188, n. 1/2, p. e412, doi. 10.1093/milmed/usab076

By:

Ransom, Jacob L;
Wong, Ka C;
Kircher, Jacqueline;
Usry, Courtney;
Larson, Christopher

Publication type:

Article

Pharmacotherapy for inherited arrhythmia syndromes: mechanistic basis, clinical trial evidence and practical application.

Published in:

Expert Review of Cardiovascular Therapy, 2015, v. 13, n. 7, p. 769, doi. 10.1586/14779072.2015.1049156

By:

Tadros, Rafik;
Cadrin-Tourigny, Julia;
Abadir, Sylvia;
Rivard, Lena;
Nattel, Stanley;
Talajic, Mario;
Khairy, Paul

Publication type:

Article

Health Care Utilization by Older Adults in Nepal: An Investigation of Correlates and Equity in Utilization.

Published in:

International Journal of Health Services, 2022, v. 52, n. 2, p. 236, doi. 10.1177/0020731420981928

By:

Ghimire, Saruna;
Singh, Devendra Raj;
McLaughlin, Sara J.;
Maharjan, Renusha;
Nath, Dhirendra

Publication type:

Article

Rare health conditions 15: long QT syndrome, Wernicke-Korsakoff syndrome, Zellweger syndrome and Van der Woude syndrome.

Published in:

British Journal of Healthcare Assistants, 2018, v. 12, n. 8, p. 386, doi. 10.12968/bjha.2018.12.8.386

By:

Barber, Chris

Publication type:

Article

Osteogenic and Chondrogenic Master Genes Expression Is Dependent on the Kir2.1 Potassium Channel Through the Bone Morphogenetic Protein Pathway.

Published in:

Journal of Bone & Mineral Research, 2018, v. 33, n. 10, p. 1826, doi. 10.1002/jbmr.3474

By:

Pini, Jonathan;
Giuliano, Serena;
Matonti, Julia;
Gannoun, Lila;
Simkin, Dina;
Rouleau, Matthieu;
Bendahhou, Saïd

Publication type:

Article

Andersen-Tawil syndrome (LQT7) is associated with alterations in left ventricular rotational mechanics.

Published in:

Cardiologia Croatica, 2014, v. 9, n. 5/6, p. 188, doi. 10.15836/ccar.2014.188

By:

Kalapos, Anita;
Sepp, Róbert;
Domsik, Péter;
Forster, Tamás;
Nemes, Attila

Publication type:

Article

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Published in:

Journal of Arrhythmia, 2012, v. 28, n. 6, p. 360, doi. 10.1016/j.joa.2012.08.002

By:

Kamiya, Chizuko A.;
Shimizu, Wataru;
Kabayashi, Yoshinari;
Miyoshi, Takekazu;
Horiuchi, Chinami;
Umekawa, Takashi;
Yamanaka, Kaoru;
Neki, Reiko;
Katsuragi, Shinji;
Yoshimatsu, Jun;
Ikeda, Tomoaki

Publication type:

Article

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.

Published in:

Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00076

By:

Binda, Anna;
Rivolta, Ilaria;
Villa, Chiara;
Chisci, Elisa;
Beghi, Massimiliano;
Cornaggia, Cesare M.;
Giovannoni, Roberto;
Combi, Romina

Publication type:

Article

Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype.

Published in:

Pacing & Clinical Electrophysiology, 2019, v. 42, n. 2, p. 201, doi. 10.1111/pace.13569

By:

Rai, Maneesh K.;
Pai, Rohith;
Prabhu, Mukund A.;
Pasha, Syed Waleem;
Kedambadi, Rakshith C.;
Kamath, Padmanabh;
Augustine, Alfred J.;
Bhavani, Gangham SriLakshmi;
Girisha, Katta M.

Publication type:

Article

Response to flecainide test in Andersen‐Tawil syndrome with incessant ventricular tachycardia.

Published in:

2018

By:

Fernández, Marcos;
Marín, María Del Rosario;
Fernández‐Armenta, Juan;
Mora‐López, Francisco;
Fernández Rivero, Rafael;
Berruezo, Antonio;
Cano Calabria, Lucas;
Vázquez García, Rafael

Publication type:

Case Study

Sudden Arrhythmic Death Syndrome: Diagnostic Yield of Comprehensive Clinical Evaluation of Pediatric First-Degree Relatives.

Published in:

Pacing & Clinical Electrophysiology, 2014, v. 37, n. 12, p. 1681, doi. 10.1111/pace.12479

By:

GIUDICI, VALENTINA;
SPANAKI, ADRIANI;
HENDRY, JENNIFER;
MEAD‐REGAN, SARAH;
FIELD, ELLA;
ZUCCOTTI, GIAN VINCENZO;
ABRAMS, DOMINIC;
LOWE, MARTIN;
KASKI, JUAN PABLO

Publication type:

Article

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

Published in:

Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 7, p. 569, doi. 10.1139/cjpp-2014-0527

By:

Ördög, Balázs;
Hategan, Lidia;
Kovács, Mária;
Seprényi, György;
Kohajda, Zsófia;
Nagy, István;
Hegedűs, Zoltán;
Környei, László;
Jost, Norbert;
Katona, Márta;
Szekeres, Miklós;
Forster, Tamás;
Papp, Julius Gy.;
Varró, András;
Sepp, Róbert

Publication type:

Article

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0472-x

By:

Scheiper, Stefanie;
Hertel, Brigitte;
Beckmann, Britt-Maria;
Kääb, Stefan;
Thiel, Gerhard;
Kauferstein, Silke

Publication type:

Article

Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.

Published in:

Journal of Physiology, 2016, v. 594, n. 12, p. 3245, doi. 10.1113/JP271930

By:

Adams, Dany Spencer;
Uzel, Sebastien G. M.;
Akagi, Jin;
Wlodkowic, Donald;
Andreeva, Viktoria;
Yelick, Pamela Crotty;
Devitt‐Lee, Adrian;
Pare, Jean‐Francois;
Levin, Michael

Publication type:

Article

Bidirectional Ventricular Tachycardia: Challenges and Solutions.

Published in:

2022

By:

Almarzuqi, Ahmed;
Kimber, Shane;
Quadros, Kenneth;
Senaratne, Janek

Publication type:

journal article

Broadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.

Published in:

2025

By:

Nair, Aditya Vijayakrishnan;
Sivadasan, Ajith;
Muthusamy, Karthik;
Danda, Sumita

Publication type:

Letter to the Editor

Clinodactyly – A clinical clue to diagnose a hereditary periodic paralysis.

Published in:

2020

By:

Parihar, Jasmine;
Vishnu, Venugopalan;
Singh, Mamta;
Goyal, Vinay;
Padma Srivastava, M

Publication type:

Case Study

Obstetric management of a patient with Andersen–Tawil syndrome: A case report.

Published in:

Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 1, p. 446, doi. 10.1111/jog.14553

By:

Inagaki, Mai;
Tatsumi, Takayuki;
Yomogita, Hiroshi;
Hirose, Asuka;
Kubo, Takuyuki;
Sekiguchi, Masaki;
Miyasaka, Naoyuki

Publication type:

Article

Andersen's syndrome mutants produce a knockdown of inwardly rectifying K channel in mouse skeletal muscle in vivo.

Published in:

Cell & Tissue Research, 2018, v. 371, n. 2, p. 309, doi. 10.1007/s00441-017-2696-7

By:

Simkin, Dina;
Robin, Gaëlle;
Giuliano, Serena;
Vukolic, Ana;
Moceri, Pamela;
Guy, Nicolas;
Wagner, Kay-Dietrich;
Lacampagne, Alain;
Allard, Bruno;
Bendahhou, Saïd

Publication type:

Article