Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and KCNJ10[original query] |
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Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. International journal of pediatric otorhinolaryngology 2010 Sep 74 (9): 1049-53. Jonard Laurence, Niasme-Grare Magali, Bonnet Crystel, Feldmann Delphine, Rouillon Isabelle, Loundon Natalie, Calais Catherine, Catros Hélène, David Albert, Dollfus Hélène, Drouin-Garraud Valérie, Duriez Françoise, Eliot Marie Madeleine, Fellmann Florence, Francannet Christine, Gilbert-Dussardier Brigitte, Gohler Catherine, Goizet Cyril, Journel Hubert, Mom Thierry, Thuillier-Obstoy Marie-Françoise, Couderc Remy, Garabédian Eréa Noël, Denoyelle Françoise, Marlin Sandri |
Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis. Genetic testing and molecular biomarkers 2011 May 15 (5): 365-8. Mercer Stephen, Mutton Patricia, Dahl Hans-Henrik |
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. The Journal of physiology 2011 Apr 589 (Pt 7): 1681-9. Thompson Dorothy A, Feather Sally, Stanescu Horia C, Freudenthal Bernard, Zdebik Anselm A, Warth Richard, Ognjanovic Milos, Hulton Sally A, Wassmer Evangeline, van't Hoff William, Russell-Eggitt Isabelle, Dobbie Angus, Sheridan Eamonn, Kleta Robert, Bockenhauer Detl |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012 Aug 53 (8): 1387-98. Lemke Johannes R, Riesch Erik, Scheurenbrand Tim, Schubach Max, Wilhelm Christian, Steiner Isabelle, Hansen Jörg, Courage Carolina, Gallati Sabina, Bürki Sarah, Strozzi Susi, Simonetti Barbara Goeggel, Grunt Sebastian, Steinlin Maja, Alber Michael, Wolff Markus, Klopstock Thomas, Prott Eva C, Lorenz Rüdiger, Spaich Christiane, Rona Sabine, Lakshminarasimhan Maya, Kröll Judith, Dorn Thomas, Krämer Günter, Synofzik Matthis, Becker Felicitas, Weber Yvonne G, Lerche Holger, Böhm Detlef, Biskup Sask |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC medical genetics 2013 14 85. Landa Priya, Differ Ann-Marie, Rajput Kaukab, Jenkins Lucy, Bitner-Glindzicz Mar |
The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome. Acta paediatrica (Oslo, Norway : 1992) 2017 Sep 106 (9): 1474-1480. Opdal Siri H, Vege Åshild, Stray-Pedersen Arne, Rognum Torleiv |
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct. The Journal of molecular diagnostics : JMD 2018 10 21 (1): 138-148. Lin Yin-Hung, Wu Chen-Chi, Lin Yi-Hsin, Lu Ying-Chang, Chen Chih-Shan, Liu Tien-Chen, Chen Pei-Lung, Hsu Chuan-J |
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
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