Zahurul Alam Bhuiyan

Publications | Mémoires et thèses

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93 publications

Sous presse | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2003 | 2002 | 2001 | 1999 | 1996 | 1995 |
Sous presse
 
A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients
Bdier Amnah Yousuf, Al-Qahtani Faten Abdullah, Kumar Verma Prashant, Alshoaibi Naeem Abdulmoneem, Mohammed Alrayes Nuha, Shaik Noor Ahmad, Foo Roger Sik Yin, Bhuiyan Zahurul Alam, Al-Aama Jumana Y. Archives of Medical Science.
[DOI][serval:BIB_6E39D881387F]
2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore J.B., Bhuiyan Z.A., Coviello D.A., du Sart D., Edwards M., Iascone M., Morris-Rosendahl D.J., Sheils K., van Slegtenhorst M., Thomson K.L., 2023/09. European journal of human genetics, 31 (9) pp. 1003-1009. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_C12E0FE39170]
 
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
Alrayes N., Mallah B.A., Issa N.M., Banaganapalli B., Ahmad Shaik N., Nasser K.K., Alshehri B.A., Bhuiyan Z.A., Bdier A.Y., Al-Aama J.Y., 2023/01/30. Gene, 851 p. 146909. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F1287CBEA2FB]
2022
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C., Pavlidou D.C., Bhuiyan Z., Porretta A.P., Monney P., Bedoni N., Maurer F., Sekarski N., Atallah I., Émeline D. et al., 2022/12. European journal of medical genetics, 65 (12) p. 104627. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_36267BDE9D6F]
 
Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.
Bhuiyan Z.A., Bdier A., Al-Aama J.Y., Abramova T., George A.L., 2022/08. Circulation. Genomic and precision medicine, 15 (4) pp. e003695. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EC86DD95C033]
 
SCN5A overlap syndromes: An open-minded approach.
Porretta A.P., Probst V., Bhuiyan Z.A., Davoine E., Delinière A., Pascale P., Schlaepfer J., Superti-Furga A., Pruvot E., 2022/08. Heart rhythm, 19 (8) pp. 1363-1368. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E6B016D96A8A]
2021
 
Life-threatening arrhythmias with autosomal recessive TECRL variants.
Webster G., Aburawi E.H., Chaix M.A., Chandler S., Foo R., Islam AKMM, Kammeraad JAE, Rioux J.D., Al-Gazali L., Sayeed M.Z. et al., 2021/05/21. Europace, 23 (5) pp. 781-788. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1CBA4E180616]
 
Sudden Cardiac Death and Catecholaminergic Polymorphic Ventricular Tachycardia: What Genetic Medicine could offer
Bhuiyan Zahurul A, 2021/04/15. Cardiovascular Journal, 13 (2) pp. 106-111.
[DOI][serval:BIB_6A178659E01F]
Editorial: Monogenic vs. Oligogenic Reclassification.
Messaoud O., Dutta A.K., Cornejo-Olivas M.R., Bhuiyan Z.A., 2021. Frontiers in genetics, 12 p. 821591. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_63D5E855D8A5]
2020
Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]
Porretta A.P., Davoine E., Superti-Furga A., Bhuiyan Z.A., Domenichini G., Herrera Siklody C., Pascale P., Haddad C., Schläpfer J., Pruvot É., 2020/06/03. Revue medicale suisse, 16 (696) pp. 1148-1152. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_BDD3E3FCB0E0]
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good J.M., Fellmann F., Bhuiyan Z.A., Rotman S., Pruvot E., Schläpfer J., 2020/01. HeartRhythm case reports, 6 (1) pp. 15-19. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_8C524F2FEC93]
2019
 
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L., Spazzolini C., Tester D.J., Ghidoni A., Baruteau A.E., Beckmann B.M., Behr E.R., Bennett J.S., Bezzina C.R., Bhuiyan Z.A. et al., 2019/09/14. European heart journal, 40 (35) pp. 2964-2975. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_59356BCA7069]
 
Genetic Mosaicism in Calmodulinopathy.
Wren L.M., Jiménez-Jáimez J., Al-Ghamdi S., Al-Aama J.Y., Bdeir A., Al-Hassnan Z.N., Kuan J.L., Foo R.Y., Potet F., Johnson C.N. et al., 2019/09. Circulation. Genomic and precision medicine, 12 (9) pp. 375-385. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8BC6ECFEAA31]
 
Clinical and genetic analysis of long QT syndrome in two Malay children.
Wong A.R., Zilfalil B.A., Bhuiyan Z.A., 2019/08. The Medical journal of Malaysia, 74 (4) pp. 341-343. Peer-reviewed.
[Pmid][serval:BIB_1F1BA610CC52]
Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.
Abdallah A.M., Carlus S.J., Al-Mazroea A.H., Alluqmani M., Almohammadi Y., Bhuiyan Z.A., Al-Harbi K.M., 2019/01/15. Medicina, 55 (1). Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6BB4100832F1]
 
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
van Kuilenburg ABP, Meijer J., Meinsma R., Pérez-Dueñas B., Alders M., Bhuiyan Z.A., Artuch R., Hennekam RCM, 2019. JIMD reports, 45 pp. 65-69. Peer-reviewed.
[DOI][Pmid][serval:BIB_F71A7A629C1A]
2018
 
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan Z.A., 2018/10. Heart rhythm, 15 (10) pp. 1575-1576. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_65927706531D]
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Saprungruang A., Khongphatthanayothin A., Mauleekoonphairoj J., Wandee P., Kanjanauthai S., Bhuiyan Z.A., Wilde AAM, Poovorawan Y., 2018. Indian pacing and electrophysiology journal, 18 (5) pp. 165-171. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_9009FC661638]
2017
 
Cardiology in the Post-Genomic Era : Road to Personalized Medicine
Bhuiyan Zahurul A, 2017/10/10. Bangladesh Heart Journal, 32 (1) pp. 1-2. Peer-reviewed.
[DOI][serval:BIB_D9FBBD74949C]
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Bdier A.Y., Al-Ghamdi S., Verma P.K., Dagriri K., Alshehri B., Jiman O.A., Ahmed S.E., Wilde AAM, Bhuiyan Z.A., Al-Aama J.Y., 2017/09. Molecular genetics & genomic medicine, 5 (5) pp. 592-601. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_137B62B23653]
 
Consultation multidisciplinaire de cardiogénétique [Multidisciplinary cardiogenetic counselling]
Fellmann F., Jeanrenaud X., Sekarski N., Michaud K., Hersch D., Fodstad H., Bhuiyan Z.A., Schläpfer J., 2017/05/24. Revue medicale suisse, 13 (564) pp. 1094-1099. Peer-reviewed.
[Pmid][serval:BIB_F87EBD35468B]
2016
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.
Devalla H.D., Gélinas R., Aburawi E.H., Beqqali A., Goyette P., Freund C., Chaix M.A., Tadros R., Jiang H., Le Béchec A. et al., 2016/12. EMBO molecular medicine, 8 (12) pp. 1390-1408. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_EB060DB2BDA6]
 
Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
Pipilas D.C., Johnson C.N., Webster G., Schlaepfer J., Fellmann F., Sekarski N., Wren L.M., Ogorodnik K.V., Chazin D.M., Chazin W.J. et al., 2016/10. Heart rhythm, 13 (10) pp. 2012-2019. Peer-reviewed.
[DOI][Pmid][serval:BIB_4D0474E4A1C5]
 
Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.
Singh A., Prasad R., Singh R., Kapoor S., Bhuiyan Z.A., Mishra O.P., 2016/09. Indian journal of pediatrics, 83 (9) pp. 1038-1039. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D563A42D6884]
Pheochromocytoma Masked by Mutation in the TH Gene.
Abid K., Afshar K., Fontana E., Ducry J., Rotman S., Stauffer E., Fellmann F., Tschopp O., Bhuiyan Z.A., Grouzmann E., 2016/07. Clinical chemistry, 62 (7) pp. 924-928. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_475789A533F9]
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
Asadi M., Foo R., Bhuiyan Z.A., Samienasab M.R., Salehi A.R., Shahrzad S., Salehi R., 2016/03. Anatolian journal of cardiology, 16 (3) pp. 170-174. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_4D79D6A819CA]
 
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.
Noël E.S., Momenah T.S., Al-Dagriri K., Al-Suwaid A., Al-Shahrani S., Jiang H., Willekers S., Oostveen Y.Y., Chocron S., Postma A.V. et al., 2016. Human Mutation, 37 (2) pp. 194-200. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A3FF6062D29]
Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.
Maurer F., Pradervand S., Guilleret I., Nanchen D., Maghraoui A., Chapatte L., Bojkowska K., Bhuiyan Z.A., Jacquemont N., Harshman K. et al., 2016. Swiss medical weekly, 146 pp. w14326. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_3496C46C20B6]
2015
 
Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.
Sayeed M.Z., Salam M.A., Islam A.K., Bhuiyan Z.A., 2015. Clinical Genetics, 88 (5) pp. 502-504. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6B38F4FA68F3]
 
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., AlQarawi A., Jiman O.A., Al-Aama N., Al-Aata J., Wilde A.A., Bhuiyan Z.A., 2015. Clinical Genetics, 87 (1) pp. 74-79. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C6B12351CD0F]
 
Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.
Aburawi E.H., Aburawi H.E., Bagnall K.M., Bhuiyan Z.A., 2015. Trends In Cardiovascular Medicine, 25 (4) pp. 291-301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30A7A78754B2]
 
p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
Suter M.R., Bhuiyan Z.A., Laedermann C.J., Kuntzer T., Schaller M., Stauffacher M.W., Roulet E., Abriel H., Decosterd I., Wider C., 2015. Anesthesiology, 122 (2) pp. 414-423. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3302716943FA]
Sudden cardiac death among general population and sport related population in forensic experience.
Chappex N., Schlaepfer J., Fellmann F., Bhuiyan Z.A., Wilhelm M., Michaud K., 2015. Journal of Forensic and Legal Medicine, 35 pp. 62-68. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9645DEF7D105]
Sudden cardiac death in forensic medicine - Swiss recommendations for a multidisciplinary approach.
Wilhelm M., Bolliger S.A., Bartsch C., Fokstuen S., Gräni C., Martos V., Medeiros Domingo A., Osculati A., Rieubland C., Sabatasso S. et al., 2015. Swiss Medical Weekly, 145 pp. w14129. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A473048EE872]
2014
 
A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence.
Marsman R.F., Barc J., Beekman L., Alders M., Dooijes D., van den Wijngaard A., Ratbi I., Sefiani A., Bhuiyan Z.A., Wilde A.A. et al., 2014. Journal of the American College of Cardiology, 63 (3) pp. 259-266.
[DOI][WoS][Pmid][serval:BIB_BD99F0200585]
 
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Al-Aama J.Y., Al-Ghamdi S., Bdier A.Y., Wilde A.A., Bhuiyan Z.A., 2014. Clinical Genetics, 86 (5) pp. 492-495.
[DOI][WoS][Pmid][serval:BIB_12C3E1B114D8]
 
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.
Bhuiyan Z.A., Alswaid A., Belfiore M., Al-Ghamdi S.S., Liang J., Schlaepffer J., 2014. International Journal of Cardiology, 172 (1) pp. 276-277.
[DOI][WoS][Pmid][serval:BIB_2B45E57668C1]
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N., Yagihara N., Crotti L., Johnson C.N., Beckmann B.M., Roh M.S., Shigemizu D., Lichtner P., Ishikawa T., Aiba T. et al., 2014. Circulation. Cardiovascular Genetics, 7 (4) pp. 466-474. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9EDE87D756E5]
2013
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.
Zumhagen S., Veldkamp M.W., Stallmeyer B., Baartscheer A., Eckardt L., Paul M., Remme C.A., Bhuiyan Z.A., Bezzina C.R., Schulze-Bahr E., 2013. Plos One, 8 (6) pp. e67963.
[URN][DOI][WoS][Pmid][serval:BIB_9F7459C01C67]
Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia
Bhuiyan Z.A., Al-Shahrani S., Al-Aama J., Wilde A.A.M., Momenah T.S., 2013. Frontiers In Pediatrics, 1 p. 39. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_42894F14E24F]
Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia.
Watanabe H., van der Werf C., Roses-Noguer F., Adler A., Sumitomo N., Veltmann C., Rosso R., Bhuiyan Z.A., Bikker H., Kannankeril P.J. et al., 2013. Heart Rhythm, 10 (4) pp. 542-547. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_17794FE773EE]
 
IKs in Heart and Hearing, the Ear Can Do with Less than the Heart.
Bhuiyan Z.A., Wilde A.A., 2013. Circulation. Cardiovascular Genetics, 6 (2) pp. 141-143.
[DOI][WoS][Pmid][serval:BIB_765DD82D5759]
2012
 
The phenomenon of "QT stunning": the abnormal QT prolongation provoked by standing persists even as the heart rate returns to normal in patients with long QT syndrome.
Adler A., van der Werf C., Postema P.G., Rosso R., Bhuiyan Z.A., Kalman J.M., Vohra J.K., Guevara-Valdivia M.E., Marquez M.F., Halkin A. et al., 2012/06. Heart rhythm, 9 (6) pp. 901-908. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_38514C4B0695]
 
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
van der Werf C., Nederend I., Hofman N., van Geloven N., Ebink C., Frohn-Mulder I.M., Alings A.M., Bosker H.A., Bracke F.A., van den Heuvel F. et al., 2012. Circulation. Arrhythmia and Electrophysiology, 5 (4) pp. 748-756. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5312E787FD56]
Selective acquired long QT syndrome (saLQTS) upon risperidone treatment.
Lazarczyk M.J., Bhuiyan Z.A., Perrin N., Giannakopoulos P., 2012. Bmc Psychiatry, 12 p. 220. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_38333B511444]
 
Silent mutation in long QT syndrome: Pathogenicity prediction by computer simulation.
Bhuiyan Z.A., 2012. Heart Rhythm, 9 (2) pp. 283-4.
[DOI][WoS][Pmid][serval:BIB_8B7840CBC959]
2011
 
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
Cox M.G., van der Zwaag P.A., van der Werf C., van der Smagt J.J., Noorman M., Bhuiyan Z.A., Wiesfeld A.C., Volders P.G., van Langen I.M., Atsma D.E. et al., 2011/06/14. Circulation, 123 (23) pp. 2690-2700. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_061FF812753A]
 
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
Kapplinger J.D., Landstrom A.P., Salisbury B.A., Callis T.E., Pollevick G.D., Tester D.J., Cox M.G., Bhuiyan Z., Bikker H., Wiesfeld A.C. et al., 2011/06/07. Journal of the American College of Cardiology, 57 (23) pp. 2317-2327. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_171219B947FF]
 
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia.
van der Werf C., Kannankeril P.J., Sacher F., Krahn A.D., Viskin S., Leenhardt A., Shimizu W., Sumitomo N., Fish F.A., Bhuiyan Z.A. et al., 2011/05/31. Journal of the American College of Cardiology, 57 (22) pp. 2244-2254. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5A645A34E429]
 
Desmosomal mutations across the fence.
Bhuiyan Z.A., Wilde A.A., 2011. Heart Rhythm, 8 (8) pp. 1222-1223.
[DOI][WoS][Pmid][serval:BIB_E37409BB6358]
Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.
Nof E., Belhassen B., Arad M., Bhuiyan Z.A., Antzelevitch C., Rosso R., Fogelman R., Luria D., El-Ani D., Mannens M.M. et al., 2011. Heart Rhythm, 8 (10) pp. 1546-1552.
[URN][DOI][WoS][Pmid][serval:BIB_70976D4657E4]
 
Propoxyphene-induced torsades de pointes.
Adler A., Viskin S., Bhuiyan Z.A., Eisenberg E., Rosso R., 2011. Heart Rhythm, 8 (12) pp. 1952-1954.
[DOI][WoS][Pmid][serval:BIB_BD908A74BCEB]
2010
 
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome.
Viskin S., Postema P.G., Bhuiyan Z.A., Rosso R., Kalman J.M., Vohra J.K., Guevara-Valdivia M.E., Marquez M.F., Kogan E., Belhassen B. et al., 2010/05/04. Journal of the American College of Cardiology, 55 (18) pp. 1955-1961. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_828F4F0C8E85]
 
SCN5A mutations in atrial fibrillation.
Amin Ahamad S., Bhuiyan Zahurul A., 2010. Heart Rhythm, 7 (12) pp. 1870-1871.
[DOI][WoS][Pmid][serval:BIB_B26358A8AE95]
2009
 
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 Z.A., Tester D.J., Hofman N., Bikker H., van Tintelen J.P., Mannens M.M., Wilde A.A., Ackerman M.J., 2009/11/24. Journal of the American College of Cardiology, 54 (22) pp. 2065-2074. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D54CC74CA8A9]
 
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan Z.A., Jongbloed J.D., van der Smagt J., Lombardi P.M., Wiesfeld A.C., Nelen M., Schouten M., Jongbloed R., Cox M.G., van Wolferen M. et al., 2009/10. Circulation. Cardiovascular genetics, 2 (5) pp. 418-427. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5967EF158028]
 
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome.
Wulffaert J., van Berckelaer-Onnes I., Kroonenberg P., Scholte E., Bhuiyan Z., Hennekam R., 2009/07. Journal of intellectual disability research, 53 (7) pp. 604-619. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_72DFB09D7506]
 
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?
Bhuiyan Z.A., Al-Shahrani S., Al-Khadra A.S., Al-Ghamdi S., Al-Khalaf K., Mannens M.M., Wilde A.A., Momenah T.S., 2009/05. Pediatric cardiology, 30 (4) pp. 490-501. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_B9773E001DAD]
 
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli P.G., Tan H.L., Probst V., Koopmann T.T., Tanck M.W., Bhuiyan Z.A., Sacher F., Kyndt F., Schott J.J., Albuisson J. et al., 2009/03. Heart rhythm, 6 (3) pp. 341-348. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A3C10D5BB786]
 
Heart Disease in Children
Oliveira M (eds.)Bhuiyan Z, 2009., Nova Science Publishers.
[serval:BIB_CF3653A574A2]
 
Heart Disease in Men
Todd Alice (eds.)Bhuiyan Z, 2009., Nova Science Publisher .
[serval:BIB_EE477A2F6249]
2008
 
Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia.
Wilde A.A., Bhuiyan Z.A., Crotti L., Facchini M., De Ferrari G.M., Paul T., Ferrandi C., Koolbergen D.R., Odero A., Schwartz P.J., 2008/05/08. The New England journal of medicine, 358 (19) pp. 2024-2029. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F30FD66B9104]
 
Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation.
Bhuiyan Z.A., Momenah T.S., Gong Q., Amin A.S., Ghamdi S.A., Carvalho J.S., Homfray T., Mannens M.M., Zhou Z., Wilde A.A., 2008/04. Heart rhythm, 5 (4) pp. 553-561. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C55402F964A9]
 
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
Bhuiyan Z.A., Momenah T.S., Amin A.S., Al-Khadra A.S., Alders M., Wilde A.A., Mannens M.M., 2008. Progress in biophysics and molecular biology, 98 (2-3) pp. 319-327. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4AE5BE602ED0]
2007
 
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
Casini S., Tan H.L., Bhuiyan Z.A., Bezzina C.R., Barnett P., Cerbai E., Mugelli A., Wilde A.A., Veldkamp M.W., 2007/12/01. Cardiovascular research, 76 (3) pp. 418-429. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2AA91561E25B]
 
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.
Bhuiyan Z.A., van den Berg M.P., van Tintelen J.P., Bink-Boelkens M.T., Wiesfeld A.C., Alders M., Postma A.V., van Langen I., Mannens M.M., Wilde A.A., 2007/10/02. Circulation, 116 (14) pp. 1569-1576. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FBCB0F110E06]
 
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.
Bhuiyan Z.A., Hamdan M.A., Shamsi E.T., Postma A.V., Mannens M.M., Wilde A.A., Al-Gazali L., 2007/09. Journal of cardiovascular electrophysiology, 18 (10) pp. 1060-1066. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E693F5FF3406]
 
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.
Vrouwe M.G., Elghalbzouri-Maghrani E., Meijers M., Schouten P., Godthelp B.C., Bhuiyan Z.A., Redeker E.J., Mannens M.M., Mullenders L.H., Pastink A. et al., 2007/06/15. Human molecular genetics, 16 (12) pp. 1478-1487. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_059EA951A1C3]
 
Human keratinocytes produce the complement inhibitor factor I: Synthesis is regulated by interferon-gamma.
Timár K.K., Junnikkala S., Dallos A., Jarva H., Bhuiyan Z.A., Meri S., Bos J.D., Asghar S.S., 2007/04. Molecular immunology, 44 (11) pp. 2943-2949. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_213509B61F91]
 
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Bhuiyan Z.A., Stewart H., Redeker E.J., Mannens M.M., Hennekam R.C., 2007/04. European journal of human genetics, 15 (4) pp. 505-508. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0A39B59D8236]
 
Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters.
Otterspoor L.C., Reichert C.L., Cramer M.J., Bhuiyan Z.A., Wilde A.A., Hauer R.N., 2007. Netherlands heart journal, 15 (10) pp. 348-353. Peer-reviewed.
[WoS][Pmid][serval:BIB_FC4D551CCDC6]
2006
 
del(6)(p23) in two cases of de novo AML--a new recurrent primary chromosome abnormality.
Anwar Iqbal M., Al-Omar H.M., Owaidah T., Al-Humaidan H., Bhuiyan Z.A., Sahovic E., 2006/09. European journal of haematology, 77 (3) pp. 245-250. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E2627686D602]
 
A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.
Bhuiyan Z.A., Zilfalil B.A., Hennekam R.C., 2006/08. Singapore medical journal, 47 (8) pp. 724-727. Peer-reviewed.
[Pmid][serval:BIB_285638136802]
 
Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.
Kannankeril P.J., Bhuiyan Z.A., Darbar D., Mannens M.M., Wilde A.A., Roden D.M., 2006/08. Heart rhythm, 3 (8) pp. 939-944. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_EF0D0C306F27]
 
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Bhuiyan Z.A., Klein M., Hammond P., van Haeringen A., Mannens M.M., Van Berckelaer-Onnes I., Hennekam R.C., 2006/07. Journal of medical genetics, 43 (7) pp. 568-575. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6E7FBE52A360]
 
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen J.P., Entius M.M., Bhuiyan Z.A., Jongbloed R., Wiesfeld A.C., Wilde A.A., van der Smagt J., Boven L.G., Mannens M.M., van Langen I.M. et al., 2006/04/04. Circulation, 113 (13) pp. 1650-1658. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3B20FB13E9CB]
 
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique.
Berecki G., Zegers J.G., Bhuiyan Z.A., Verkerk A.O., Wilders R., van Ginneken A.C., 2006/01/15. The Journal of physiology, 570 (Pt 2) pp. 237-250. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6CE8A87F48D8]
 
Congenital Heart Disease: Molecular Diagnostics
Kearns-Jonker Mary (eds.)Postma A, Bhuiyan Z, Bikker H, 2006., Springer.
[serval:BIB_EDB8C0FA5867]
 
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.
Postma A.V., Bhuiyan Z.A., Bikker H., 2006. Methods in molecular medicine, 126 pp. 171-183. Peer-reviewed.
[DOI][Pmid][serval:BIB_25D8A3EBB846]
2005
 
Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
Amin A.S., Verkerk A.O., Bhuiyan Z.A., Wilde A.A., Tan H.L., 2005/12. Acta physiologica Scandinavica, 185 (4) pp. 291-301. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BA2C52D2F2C1]
 
Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome.
Verkerk A.O., Wilders R., Schulze-Bahr E., Beekman L., Bhuiyan Z.A., Bertrand J., Eckardt L., Lin D., Borggrefe M., Breithardt G. et al., 2005/12/01. Cardiovascular research, 68 (3) pp. 441-453. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E0B9275B291B]
 
Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.
Coronel R., Casini S., Koopmann T.T., Wilms-Schopman F.J., Verkerk A.O., de Groot J.R., Bhuiyan Z., Bezzina C.R., Veldkamp M.W., Linnenbank A.C. et al., 2005/11/01. Circulation, 112 (18) pp. 2769-2777. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D3F4AD7667C7]
 
Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.
Smits J.P., Veldkamp M.W., Bezzina C.R., Bhuiyan Z.A., Wedekind H., Schulze-Bahr E., Wilde A.A., 2005/08/15. Cardiovascular research, 67 (3) pp. 459-466. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_21BA807D0AC8]
 
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
Smits J.P., Koopmann T.T., Wilders R., Veldkamp M.W., Opthof T., Bhuiyan Z.A., Mannens M.M., Balser J.R., Tan H.L., Bezzina C.R. et al., 2005/06. Journal of molecular and cellular cardiology, 38 (6) pp. 969-981. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_88C62CD70587]
 
HERG channel (dys)function revealed by dynamic action potential clamp technique.
Berecki G., Zegers J.G., Verkerk A.O., Bhuiyan Z.A., de Jonge B., Veldkamp M.W., Wilders R., van Ginneken A.C., 2005/01. Biophysical journal, 88 (1) pp. 566-578. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F99FF5F16896]
2003
 
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.
Bezzina C.R., Verkerk A.O., Busjahn A., Jeron A., Erdmann J., Koopmann T.T., Bhuiyan Z.A., Wilders R., Mannens M.M., Tan H.L. et al., 2003/07/01. Cardiovascular research, 59 (1) pp. 27-36. Peer-reviewed.
[WoS][Pmid][serval:BIB_97BD9F1FF270]
2002
 
Integration analysis of pSK41 in the chromosome of a methicillin-resistant Staphylococcus aureus K-1.
McElgunn C.J., Zahurul M., Bhuyian A., Sugiyama M., 2002. Journal of basic microbiology, 42 (3) pp. 190-200. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7D9488E53BD1]
2001
 
De novo mutation in the SCN5A gene associated with early onset of sudden infant death.
Wedekind H., Smits J.P., Schulze-Bahr E., Arnold R., Veldkamp M.W., Bajanowski T., Borggrefe M., Brinkmann B., Warnecke I., Funke H. et al., 2001/09/04. Circulation, 104 (10) pp. 1158-1164. Peer-reviewed.
[WoS][Pmid][serval:BIB_E13010C34026]
1999
 
Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.
Bhuiyan Z.A., Yatsuki H., Sasaguri T., Joh K., Soejima H., Zhu X., Hatada I., Morisaki H., Morisaki T., Mukai T., 1999/03. Human genetics, 104 (3) pp. 205-210. Peer-reviewed.
[WoS][Pmid][serval:BIB_B0147DDDCCB8]
1996
 
IS431mec-mediated integration of a bleomycin-resistance gene into the chromosome of a methicillin-resistant Staphylococcus aureus strain isolated in Japan.
Sugiyama M., Yuasa K., Bhuiyan M.Z., Iwai Y., Masumi N., Ueda K., 1996/08. Applied microbiology and biotechnology, 46 (1) pp. 61-66. Peer-reviewed.
[WoS][Pmid][serval:BIB_3B9147B2630F]
1995
 
Isolation and characterization of Marek's disease virus (MDV) cDNAs mapping to the BamHI-I2, BamHI-Q2, and BamHI-L fragments of the MDV genome from lymphoblastoid cells transformed and persistently infected with MDV.
Peng Q., Zeng M., Bhuiyan Z.A., Ubukata E., Tanaka A., Nonoyama M., Shirazi Y., 1995/11/10. Virology, 213 (2) pp. 590-599. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_94385EBB9D26]
 
Molecular cloning and expression in Escherichia coli of bleomycin-resistance gene from a methicillin-resistant Staphylococcus aureus and its association with IS431 mec.
Bhuiyan M.Z., Ueda K., Inouye Y., Sugiyama M., 1995/04. Applied microbiology and biotechnology, 43 (1) pp. 65-69. Peer-reviewed.
[WoS][Pmid][serval:BIB_AB99EE013543]
 
Overproduction of the bleomycin-binding proteins from bleomycin-producing Streptomyces verticillus and a methicillin-resistant Staphylococcus aureus in Escherichia coli and their immunological characterisation.
Sugiyama M., Kumagai T., Matsuo H., Bhuiyan M.Z., Ueda K., Mochizuki H., Nakamura N., Davies J.E., 1995/03/27. FEBS letters, 362 (1) pp. 80-84. Peer-reviewed.
[WoS][Pmid][serval:BIB_2A5C853C7CA8]
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