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65 results

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Page 1
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ. Medeiros-Domingo A, et al. Among authors: bhuiyan za. J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022. J Am Coll Cardiol. 2009. PMID: 19926015 Free PMC article.
SCN5A overlap syndromes: An open-minded approach.
Porretta AP, Probst V, Bhuiyan ZA, Davoine E, Delinière A, Pascale P, Schlaepfer J, Superti-Furga A, Pruvot E. Porretta AP, et al. Among authors: bhuiyan za. Heart Rhythm. 2022 Aug;19(8):1363-1368. doi: 10.1016/j.hrthm.2022.03.1223. Epub 2022 Mar 26. Heart Rhythm. 2022. PMID: 35351625 Review.
Editorial: Monogenic vs. Oligogenic Reclassification.
Messaoud O, Dutta AK, Cornejo-Olivas MR, Bhuiyan ZA. Messaoud O, et al. Among authors: bhuiyan za. Front Genet. 2021 Dec 13;12:821591. doi: 10.3389/fgene.2021.821591. eCollection 2021. Front Genet. 2021. PMID: 34966416 Free PMC article. No abstract available.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
Fellmann F, Saunders C, O'Donohue MF, Reid DW, McFadden KA, Montel-Lehry N, Yu C, Fang M, Zhang J, Royer-Bertrand B, Farinelli P, Karboul N, Willer JR, Fievet L, Bhuiyan ZA, Kleinhenz AL, Jadeau J, Fulbright J, Rivolta C, Renella R, Katsanis N, Beckmann JS, Nicchitta CV, Da Costa L, Davis EE, Gleizes PE. Fellmann F, et al. JCI Insight. 2024 Aug 1;9(17):e172475. doi: 10.1172/jci.insight.172475. JCI Insight. 2024. PMID: 39088281 Free PMC article.
Genetic Mosaicism in Calmodulinopathy.
Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr. Wren LM, et al. Among authors: bhuiyan za. Circ Genom Precis Med. 2019 Sep;12(9):375-385. doi: 10.1161/CIRCGEN.119.002581. Epub 2019 Aug 27. Circ Genom Precis Med. 2019. PMID: 31454269 Free PMC article.
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore JB, Bhuiyan ZA, Coviello DA, du Sart D, Edwards M, Iascone M, Morris-Rosendahl DJ, Sheils K, van Slegtenhorst M, Thomson KL. Hayesmoore JB, et al. Among authors: bhuiyan za. Eur J Hum Genet. 2023 Sep;31(9):1003-1009. doi: 10.1038/s41431-023-01421-w. Epub 2023 Jul 13. Eur J Hum Genet. 2023. PMID: 37443332 Free PMC article. Review.
Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.
Bhuiyan ZA, Bdier A, Al-Aama JY, Abramova T, George AL Jr. Bhuiyan ZA, et al. Circ Genom Precis Med. 2022 Aug;15(4):e003695. doi: 10.1161/CIRCGEN.121.003695. Epub 2022 May 11. Circ Genom Precis Med. 2022. PMID: 35543700 No abstract available.
SCN5A mutations in atrial fibrillation.
Amin AS, Bhuiyan ZA. Amin AS, et al. Among authors: bhuiyan za. Heart Rhythm. 2010 Dec;7(12):1870-1. doi: 10.1016/j.hrthm.2010.09.012. Epub 2010 Sep 17. Heart Rhythm. 2010. PMID: 20850563 No abstract available.
65 results