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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: bezzina cr. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.
A sodium-channel mutation causes isolated cardiac conduction disease.
Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR. Tan HL, et al. Among authors: bezzina cr. Nature. 2001 Feb 22;409(6823):1043-7. doi: 10.1038/35059090. Nature. 2001. PMID: 11234013
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, Schulze-Bahr E, LeMarec H, Wilde AA. Smits JP, et al. Among authors: bezzina cr. J Am Coll Cardiol. 2002 Jul 17;40(2):350-6. doi: 10.1016/s0735-1097(02)01962-9. J Am Coll Cardiol. 2002. PMID: 12106943 Free article.
Genetic control of sodium channel function.
Tan HL, Bezzina CR, Smits JP, Verkerk AO, Wilde AA. Tan HL, et al. Among authors: bezzina cr. Cardiovasc Res. 2003 Mar 15;57(4):961-73. doi: 10.1016/s0008-6363(02)00714-9. Cardiovasc Res. 2003. PMID: 12650874 Review.
251 results