Zahurul A Bhuiyan

Zahurul A Bhuiyan

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Zahurul A Bhuiyan

Zahurul A Bhuiyan

Publications by authors named "Zahurul A Bhuiyan"

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52Publications

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Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.

Medicina (Kaunas) 2019 Jan 15;55(1). Epub 2019 Jan 15.

Cardiogenetics Unit, Pediatrics Department, College of Medicine, Taibah University, 30001 Al-Madinah, Saudi Arabia.

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http://dx.doi.org/10.3390/medicina55010017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359299PMC
January 2019

Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.

Heart Rhythm 2018 10 8;15(10):1575-1576. Epub 2018 Jun 8.

Laboratoire de Génétique, Service de Médecine Génétique, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.06.010DOI Listing
October 2018

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_138
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http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 2018

Genotype and clinical characteristics of congenital long QT syndrome in Thailand.

Indian Pacing Electrophysiol J 2018 Sep - Oct;18(5):165-171. Epub 2018 Jul 20.

Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand; Center of Excellence in Clinical Virology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

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http://dx.doi.org/10.1016/j.ipej.2018.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198685PMC
July 2018

Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Mol Genet Genomic Med 2017 Sep 21;5(5):592-601. Epub 2017 Jun 21.

Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary DisordersKing Abdulaziz UniversityJeddahSaudi Arabia.

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http://dx.doi.org/10.1002/mgg3.305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606890PMC
September 2017

[Multidisciplinary cardiogenetic counselling].

Rev Med Suisse 2017 May;13(564):1094-1099

Service de cardiologie, CHUV, 1011 Lausanne.

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May 2017

Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene.

Indian J Pediatr 2016 Sep 4;83(9):1038-9. Epub 2016 Mar 4.

Genetic and Metabolic Clinic, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India.

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http://dx.doi.org/10.1007/s12098-016-2072-8DOI Listing
September 2016

Pheochromocytoma Masked by Mutation in the TH Gene.

Clin Chem 2016 07;62(7):924-8

Département des Laboratoires, Laboratoire des Catécholamines et Peptides, University Hospital of Lausanne, Lausanne, Switzerland;

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http://dx.doi.org/10.1373/clinchem.2015.248443DOI Listing
July 2016

A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function.

Hum Mutat 2016 Feb 2;37(2):194-200. Epub 2015 Dec 2.

Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs, University Medical Centre, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/humu.22928DOI Listing
February 2016

Sudden cardiac death among general population and sport related population in forensic experience.

J Forensic Leg Med 2015 Oct 1;35:62-8. Epub 2015 Aug 1.

University Center of Legal Medicine, Lausanne and Geneva, Chemin de la Vulliette 4, 1000 Lausanne 25, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.jflm.2015.07.004DOI Listing
October 2015

Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.

Trends Cardiovasc Med 2015 May 20;25(4):291-301. Epub 2014 Nov 20.

Laboratoire de Diagnostic Moléculaire, Service de Génétique Médicale, BH19_512, Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, Lausanne CH-1011, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.tcm.2014.11.007DOI Listing
May 2015

p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.

Anesthesiology 2015 Feb;122(2):414-23

From the Pain Center, Department of Anesthesiology, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland (M.R.S., C.J.L., I.D.); Service of Medical Genetics, Department of Laboratories, Lausanne University Hospital (CHUV), Lausanne, Switzerland (Z.A.B.); Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland (T.K., M.S., M.W.S., C.W.); Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland (T.K., C.W.); Department of Pediatrics, Lausanne University Hospital (CHUV), Lausanne, Switzerland (E.R.); Department of Clinical Research, University of Bern, Bern, Switzerland (H.A.); and Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland (I.D.).

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http://dx.doi.org/10.1097/ALN.0000000000000476DOI Listing
February 2015

De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.

Clin Genet 2014 Nov 14;86(5):492-5. Epub 2013 Nov 14.

Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia; Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.12300DOI Listing
November 2014

Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.

Int J Cardiol 2014 Mar 11;172(1):276-7. Epub 2014 Jan 11.

Service de Cardiologie, CHUV, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ijcard.2013.12.242DOI Listing
March 2014

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

J Am Coll Cardiol 2014 Jan 25;63(3):259-66. Epub 2013 Sep 25.

Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2013.07.091DOI Listing
January 2014

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.

Front Pediatr 2013 Nov 20;1:39. Epub 2013 Nov 20.

Department of Pediatric Cardiology, King Fahad Medical City , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.3389/fped.2013.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864249PMC
November 2013

IKs in heart and hearing, the ear can do with less than the heart.

Circ Cardiovasc Genet 2013 Apr;6(2):141-3

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000143DOI Listing
April 2013

Silent mutation in long QT syndrome: pathogenicity prediction by computer simulation.

Heart Rhythm 2012 Feb 12;9(2):283-4. Epub 2011 Oct 12.

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http://dx.doi.org/10.1016/j.hrthm.2011.10.012DOI Listing
February 2012

Desmosomal mutations across the fence.

Heart Rhythm 2011 Aug 1;8(8):1222-3. Epub 2011 Apr 1.

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http://dx.doi.org/10.1016/j.hrthm.2011.03.057DOI Listing
August 2011

SCN5A mutations in atrial fibrillation.

Heart Rhythm 2010 Dec 17;7(12):1870-1. Epub 2010 Sep 17.

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http://dx.doi.org/10.1016/j.hrthm.2010.09.012DOI Listing
December 2010

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Prog Biophys Mol Biol 2008 Oct-Nov;98(2-3):319-27. Epub 2008 Nov 5.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.pbiomolbio.2008.10.004DOI Listing
May 2009

Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?

Pediatr Cardiol 2009 May 30;30(4):490-501. Epub 2009 Jan 30.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00246-008-9377-yDOI Listing
May 2009

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.

J Cardiovasc Electrophysiol 2007 Sep 30;18(10):1060-6. Epub 2007 Jul 30.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1540-8167.2007.00913.xDOI Listing
September 2007

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.

Hum Mol Genet 2007 Jun 27;16(12):1478-87. Epub 2007 Apr 27.

Department of Toxicogenetics, Leiden University Medical Center, Postal Zone S-6-P, PO Box 9600, 2300 RC, Leiden.

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http://dx.doi.org/10.1093/hmg/ddm098DOI Listing
June 2007

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

Eur J Hum Genet 2007 Apr 31;15(4):505-8. Epub 2007 Jan 31.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201776DOI Listing
April 2007

Human keratinocytes produce the complement inhibitor factor I: Synthesis is regulated by interferon-gamma.

Mol Immunol 2007 Apr 22;44(11):2943-9. Epub 2007 Feb 22.

Department of Dermatology, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.molimm.2007.01.007DOI Listing
April 2007

Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.

Methods Mol Med 2006 ;126:171-83

Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1385/1-59745-088-X:171DOI Listing
December 2006

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.

Heart Rhythm 2006 Aug 3;3(8):939-44. Epub 2006 May 3.

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-9119, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S154752710601485
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http://dx.doi.org/10.1016/j.hrthm.2006.04.028DOI Listing
August 2006

Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique.

J Physiol 2006 Jan 27;570(Pt 2):237-50. Epub 2005 Oct 27.

Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1113/jphysiol.2005.096578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464302PMC
January 2006

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome.

Cardiovasc Res 2005 Dec 25;68(3):441-53. Epub 2005 Jul 25.

Department of Experimental Cardiology, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cardiores.2005.06.027DOI Listing
December 2005

HERG channel (dys)function revealed by dynamic action potential clamp technique.

Biophys J 2005 Jan 8;88(1):566-78. Epub 2004 Oct 8.

Experimental and Molecular Cardiology Group and the Department of Physiology, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S000634950573131
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http://dx.doi.org/10.1529/biophysj.104.047290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1305034PMC
January 2005

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

Cardiovasc Res 2003 Jul;59(1):27-36

Experimental and Molecular Cardiology Group, Room M0-052, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://cardiovascres.oxfordjournals.org/content/cardiovascre
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http://dx.doi.org/10.1016/s0008-6363(03)00342-0DOI Listing
July 2003