Z A Bhuiyan
Affiliation: Academic Medical Center
Country: The Netherlands
Bhuiyan Z, Al Shahrani S, Al Khadra A, Al Ghamdi S, Al Khalaf K, Mannens M, et al
. Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?. Pediatr Cardiol. 2009;30:490-501 pubmed publisher
..3208 C > T in the KCNH2 gene, are presumably founder mutations in the Assir province of Saudi Arabia. Further, all LQTS causing mutations detected in this study are novel and have not been reported in other populations. ..
Bhuiyan Z, Zilfalil B, Hennekam R. A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings. Singapore Med J. 2006;47:724-7 pubmed
..Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient...
Bhuiyan Z, Stewart H, Redeker E, Mannens M, Hennekam R. Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet. 2007;15:505-8 pubmed
..In a single patient, we found a 5.2 kb deletion encompassing exons 41-42 of NIPBL. Our studies indicate that large NIPBL rearrangements do occur in CdLS but are likely to be infrequent events...
Bhuiyan Z, van den Berg M, van Tintelen J, Bink Boelkens M, Wiesfeld A, Alders M, et al
. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation. 2007;116:1569-76 pubmed
..These features have not previously been linked to RYR2. ..
Bhuiyan Z, Momenah T, Gong Q, Amin A, Ghamdi S, Carvalho J, et al
. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm. 2008;5:553-61 pubmed publisher
..Clinical consequences appear early, originating during the early stages of embryonic life. The NMD pathway renders HERG Q1070X functionless before it can form a functional ion channel. ..
Bhuiyan Z, Jongbloed J, van der Smagt J, Lombardi P, Wiesfeld A, Nelen M, et al
. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet. 2009;2:418-27 pubmed publisher
..Negative T waves on ECG were prevalent among mutation carriers (P<0.002). ..