Search Results - "SIM LOW, Poh"

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy by Tomar, Swati, Moorthy, Vikaesh, Sethi, Raman, Chai, Josiah, Low, Poh Sim, Hong, Stacey Tay Kiat, Lai, Poh San

“…Duchenne and Becker muscular dystrophies (DMD/BMD) are X‐linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients…”
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ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore by TAN, Jenny Hui-Hui, LOW, Poh-Sim, TAN, Yong-Seng, TONG, Ming-Chuan, NILMANI SAHA, HONGYUAN YANG, HENG, Chew-Kiat

“…Mutations in the ATP-binding cassette transporter ABCA1 underlie Tangier disease and familial hypoalphaliproteinemia (FHA), disorders that are characterised by…”
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Interpreting Parents' Concerns About Their Children's Development With the Parents Evaluation of Developmental Status: Culture Matters by KIING, Jennifer S. H, SIM LOW, Poh, HUAK CHAN, Yiong, NEIHART, Maureen

“…This study explored the potential roles and utility of the Parents Evaluation of Developmental Status (PEDS) to screen children for developmental delays in a…”
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The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore by HENG, Chew-Kiat, LAL, Suman, SAHA, Nilmani, LOW, Poh-Sim, KAMBOH, M. Ilyas

“…Factor XIII (FXIII) is a plasma transglutaminase that is essential for normal haemostasis and fibrinolysis. A few polymorphic sites have been identified in the…”
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Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis by Cheng, Jinting, Yim, Onn-Siong, Low, Poh-Sim, Tay, Stacey K.H., Yap, Eric P.H., Lai, Poh-San

“…Heteroduplex formation, required for the complete detection of hemi/homozygotes using high-resolution melting analysis, can be induced either by pre-PCR mixing…”
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Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines by Tay, Stacey Kiat Hong, Khng, Hwee Hoon, Low, Poh Sim, Lai, Poh San

“…Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive diseases of muscle degeneration caused by mutations in the dystrophin gene…”
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Simple instructions for partial sleep deprivation prior to pediatric EEG reduces the need for sedation by Ong, Hian-Tat, Lim, Karen J.L, Low, Poh-Chan, Low, Poh-Sim

“…Objective: To study the effects of providing simple instructions for partial sleep deprivation on the necessity for sedation in children and adolescents…”
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Variations in the promoter region of the apolipoprotein A-1 gene influence plasma lipoprotein(a) levels in Asian Indian neonates from Singapore by HENG, Chew-Kiat, LOW, Poh-Sim, SAHA, Nilmani

“…We studied the influence of two DNA polymorphisms (-75 bp G/A and +83 bp C/T) in the promoter region of the apolipoprotein A-1 (apoA1) gene on cord plasma…”
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Comparative study on deletions of the dystrophin gene in three Asian populations by Lai, Poh-San, Takeshima, Yasuhiro, Adachi, Kayo, Van Tran, Khanh, Nguyen, Hoan Thi, Low, Poh-Sim, Matsuo, Masafumi

“…The frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene…”
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Hyperpolarization and short-circuiting as mechanisms of seizure prevention following febrile convulsions by Aiyathurai, E J, Low, P S, Jacob, E

“…Though children with febrile convulsions only have seizures in the early stage of a febrile illness and not later, these seizures have been attributed to the…”
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Accuracy of Anorectal Manometry in the Diagnosis of Hirschsprung's Disease by Low, Poh‐Sim, Quak, Seng‐Hock, Prabhakaran, K., Joseph, V. T., Chiang, Gilbert S. C., Aiyathurai, Eric J.

“…The value of anorectal manometry as a diagnostic tool for Hirschsprung's disease (HD) was assessed in 50 children presenting with chronic constipation…”
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Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials by Nurputra, Dian K., Lai, Poh San, Harahap, Nur Imma F., Morikawa, Satoru, Yamamoto, Tomoto, Nishimura, Noriyuki, Kubo, Yuji, Takeuchi, Atsuko, Saito, Toshio, Takeshima, Yasuhiro, Tohyama, Yumi, Tay, Stacey KH, Low, Poh Sim, Saito, Kayoko, Nishio, Hisahide

“…Summary Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal recessive inheritance, resulting in the degeneration of motor neurons…”
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Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials: SMA Gene Discovery to Clinical Trials by Nurputra, Dian K., Lai, Poh San, Harahap, Nur Imma F., Morikawa, Satoru, Yamamoto, Tomoto, Nishimura, Noriyuki, Kubo, Yuji, Takeuchi, Atsuko, Saito, Toshio, Takeshima, Yasuhiro, Tohyama, Yumi, Tay, Stacey KH, Low, Poh Sim, Saito, Kayoko, Nishio, Hisahide

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Accuracy of Anorectal Manometry in the Diagnosis of Hirschsprungʼs Disease by Low, Poh-Sim, Quak, Seng-Hock, Prabhakaran, K., Joseph, V. T., Chiang, Gilbert S. C., Aiyathurai, Eric J.

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Factors predictive of outcome in childhood stroke in an Asian population by Tham, Elizabeth H, Tay, Stacey K H, Low, Poh Sim

“…While paediatric strokes are fairly uncommon, they are often associated with significant long-term disability. Diagnosis is often delayed because of the need…”
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Should non-expert clinician examiners be used in objective structured assessment of communication skills among final year medical undergraduates? by Wong, Mee Lian, Fones, Calvin S. L., Aw, Marion, Tan, Chay Hoon, Low, Poh Sim, Amin, Zubair, Wong, Poo Sing, Goh, Poh Sun, Wai, Chun-Tao, Ong, Benjamin, Tambyah, Paul, Koh, Dow Rhoon

“…Background: Adoption of the objective structured clinical examination may be hindered by shortages of clinicians within a specialty. Clinicians from other…”
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Should non-expert clinician examiners be used in objective structured research assessment of communication skills among final year medical undergraduates? by Wong, Mee Lian, Fones, Calvin S L, Aw, Marion, Tan, Chay Hoon, Low, Poh Sim, Amin, Zubair, Wong, Poo Sing, Goh, Poh Sun, Wai, Chun-Tao, Ong, Benjamin, Tambyah, Paul, Koh, Dow Rhoon

“…Adoption of the objective structured clinical examination may be hindered by shortages of clinicians within a specialty. Clinicians from other specialties…”
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Influence of PvuII (Intron 6) Polymorphism of the Lipoprotein Lipase Gene on Cord Plasma Lipid and Apoliporotein Levels in Indian and Chinese Newborns of Singapore by Low, Poh-Sim, Saha, Nilmani, Tay, John S H, Arulkumaran, Sabaratnam

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Influence of PvuII (Intron 6) polymorphism of the lipoprotein lipase gene on cord plasma lipid and apolipoprotein levels in Indian and Chinese newborns of Singapore by LOW, P.-S, SAHA, N, TAY, J. S. H, ARULKUMARAN, S

“…The influence of the PvuII polymorphism (intron 6) of the lipoprotein lipase (LPL) gene on cord plasma lipid traits was studied in 252 ethnic Chinese and 240…”
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Factors influencing the development of hypertensive encephalopathy in acute glomerulonephritis by Yap, H K, Low, P S, Lee, B W, Murugasu, B, Yip, W C, Tay, J S

“…The factors influencing the development of electroencephalographic (EEG) abnormalities and hypertensive encephalopathy were studied in 31 children with acute…”
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