Search Results - "Ng, I S"

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort by TAN, E. K, ZHAO, Y, YIH, Y, PAVANNI, R, WONG, M. C, NG, I. S, PUONG, K. Y, LAW, H. Y, CHAN, L. L, YEW, K, TAN, C, SHEN, H, CHANDRAN, V. R, TEOH, M. L

“…Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical…”
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Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations by BEATY, T. H, HETMANSKI, J. B, JABS, E. W, CHONG, S. S, CHEAH, F. S. H, WU-CHOU, Y. H, CHEN, P. K, CHIU, Y. F, YEOW, V, NG, I. S. L, CHENG, J, HUANG, S, FALLIN, M. D, YE, X, WANG, H, INGERSOLL, R, SCOTT, A. F, PARK, J. W, SULL, J. W, MCINTOSH, I, LIANG, K. Y, VANDERKOLK, C. A, REDETT, R. J, BOYADJIEV, S. A

“…Isolated oral clefts, including cleft lip with/without cleft palate (CL/P) and cleft palate (CP), have a complex and heterogeneous etiology. Case-parent trios…”
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Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease by Lim, S.W., Zhao, Y., Chua, E., Law, H.Y., Yuen, Y., Pavanni, R., Wong, M.C., Ng, I.S., Yoon, C.S., Puong, K.Y., Lim, S.H., Tan, E.K.

“…Recent reports of SCA2 and SCA3 patients who presented with levodopa responsive parkinsonism have generated considerable interest as they have implications for…”
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Expanded FMR1 alleles are rare in idiopathic Parkinson's disease by Tan, E K, Zhao, Y, Puong, K Y, Law, H Y, Chan, L L, Yew, K, Shen, H, Chandran, V R, Yuen, Y, Pavanni, R, Wong, M C, Ng, I S

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Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay by Zhou, Y, Law, H-Y, Boehm, C D, Yoon, C-S, Cutting, G R, Ng, I S L, Chong, S S

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MRI of carpal tunnel syndrome: before and after carpal tunnel release by Ng, A.W.H., Griffith, J.F., Ng, I.S.H.

“…Carpal tunnel syndrome (CTS) is the most common peripheral nerve entrapment syndrome. Magnetic resonance imaging (MRI) is increasingly used to diagnose CTS,…”
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DNA testing for fragile X syndrome in 255 males from special schools in Singapore by Tan, B S, Law, H Y, Zhao, Y, Yoon, C S, Ng, I S

“…Fragile X syndrome, the most common cause of inherited mental retardation, results from unstable expansion of a trinucleotide (CGG)n repeat in the FMR1 gene…”
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Novel germline BRCA1 mutations detected in women in Singapore who developed breast carcinoma before the age of 36 years by Ho, Gay Hui, Phang, Beng Hooi, Ng, Ivy S. L., Law, Hai Yang, Soo, Khee Chee, Ng, Eng Hen

“…BACKGROUND In recent years, although BRCA1 has been extensively investigated, the contribution of inherited BRCA1 mutations to breast carcinoma in Asian…”
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Del(3) (p25.3) without phenotypic effect by Knight, L A, Yong, M H, Tan, M, Ng, I S

“…A terminal deletion of chromosome 3 at p25.3 was observed during prenatal diagnosis. A similar deletion is also present in the phenotypically normal mother…”
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Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis by Ho, N K, Ng, I S

“…A dysmorphic Chinese baby girl was found to have deletion of the long arm of chromosome 4 (46XX, del[4] q33-->qter). A review of various case reports of…”
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Huntington's disease: recent progress in gene mapping and potential local application in Singapore by Wong, M C, Ng, I S

“…Advances in the field of molecular genetics have made testing of individuals for the presence of certain genes possible. Programmes for testing families with…”
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Chemical transformation of α-pinene-derived organosulfate via heterogeneous OH oxidation: implications for sources and environmental fates of atmospheric organosulfates by Xu, Rongshuang, Ng, Sze In Madeleine, Chow, Wing Sze, Wong, Yee Ka, Wang, Yuchen, Lai, Donger, Yao, Zhongping, So, Pui-Kin, Yu, Jian Zhen, Chan, Man Nin

“…Organosulfur compounds are found to be ubiquitous in atmospheric aerosols – a majority of which are expected to be organosulfates (OSs). Given the atmospheric…”
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Huntington's disease in five siblings by Wong, M C, Ng, I S, Lim, S H

“…Huntington's disease is an autosomal dominant neurodegenerative condition which is rare in Singapore. Five siblings with progressive chorea and dementia were…”
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β-thalassemia mutations in Singapore : a strategy for prenatal diagnosis by NG, I. S. L, ONG, J. B. K, CHENG LIM TAN, HAI YANG LAW

“…The strategy for early prenatal diagnosis of beta-thalassemia in Singapore by direct detection of the mutant beta-globin gene requires the spectrum of…”
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Subtle translocation (18;21) confirmed by FISH in a patient with Down syndrome by Knight, L A, Yong, M H, Tan, M, Ng, I S

“…The patient presented with the typical features of Down syndrome; hypotonia, brachycephaly, flattened occiput, bilateral prominent medical epicanthic folds,…”
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SMN1 deletions among singaporean patients with spinal muscular atrophy by Lai, A H M, Tan, E S, Law, H Y, Yoon, C S, Ng, I S L

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to…”
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Investigation of lipases from various Carica papaya varieties for hydrolysis of olive oil and kinetic resolution of ( R, S)-profen 2,2,2-trifluoroethyl thioesters by Ng, I-Son, Tsai, Shau-Wei

“…With olive oil hydrolysis in aqueous solutions and hydrolytic resolution of ( R, S)-profen 2,2,2-trifluoroethyl thioesters in water-saturated isooctane as the…”
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Expanded FMR1 alleles are rare in idiopathic Parkinson?s disease by Tan, E. K., Zhao, Y., Puong, K. Y., Law, H. Y., Chan, L. L., Yew, K., Shen, H., Chandran, V. R., Yuen, Y., Pavanni, R., Wong, M. C., Ng, I. S.

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The simultaneous presence of alpha- and beta-thalassaemia alleles: a pitfall of thalassaemia screening by Law, H Y, Chee, M K L, Tan, G P, Ng, I S L

“…To compare the efficacy of routine haematological tests and molecular analysis in the diagnosis of double heterozygous alpha- and beta-thalassaemia. Screening…”
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Partially purified Carica papaya lipase: a versatile biocatalyst for the hydrolytic resolution of (R,S)-2-arylpropionic thioesters in water-saturated organic solvents by Ng, I-Son, Tsai, Shau-Wei

“…With the hydrolytic resolution of (R,S)‐naproxen 2,2,2‐trifluoroethyl thioesters in water‐saturated isooctane as a model system, improvements of the specific…”
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