Search Results - "Choong, C S"

Biallelic DICER1 mutations occur in Wilms tumours by Wu, MK, Sabbaghian, N, Xu, B, Addidou-Kalucki, S, Bernard, C, Zou, D, Reeve, AE, Eccles, MR, Cole, C, Choong, CS, Charles, A, Tan, TY, Iglesias, DM, Goodyer, PR, Foulkes, WD

“…DICER1 is an endoribonuclease central to the generation of microRNAs (miRNAs) and short interfering RNAs (siRNAs). Germline mutations in DICER1 have been…”
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Parental pre‐pregnancy BMI is a dominant early‐life risk factor influencing BMI of offspring in adulthood by Rath, S. R., Marsh, J. A., Newnham, J. P., Zhu, K., Atkinson, H. C., Mountain, J., Oddy, W. H., Hughes, I. P., Harris, M., Leong, G. M., Cotterill, A. M., Sly, P. D., Pennell, C. E., Choong, C. S.

“…Summary Objective We examined parental and early‐life variables in order to identify risk factors for adulthood overweight and obesity in offspring. We report…”
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Graves’ disease presenting as life‐threatening hypokalaemic periodic paralysis by Joshi, Kiranjit K, de Bock, Martin, Choong, Catherine CS

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Trinucleotide repeats in the human androgen receptor: a molecular basis for disease by Choong, CS, Wilson, EM

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Reduced androgen receptor gene expression with first exon CAG repeat expansion by Choong, C S, Kemppainen, J A, Zhou, Z X, Wilson, E M

“…The molecular basis for partial androgen insensitivity associated with adult onset spinal/bulbar muscular atrophy was investigated by transient transfection of…”
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Functional characterization of multiple DICER1 mutations in an adolescent by Wu, M K, de Kock, L, Conwell, L S, Stewart, C J R, King, B R, Choong, C S, Hussain, K, Sabbaghian, N, MacRae, I J, Fabian, M R, Foulkes, W D

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1V, 1.13μm pixel pitch Liquid Crystal Driver with Charge-Balancing Scheme for SLM Applications by Mani, A., Sheng, C.Y., Zhu, D., Veetil, R.M., Parikshit, M., Mass, T.W.W., Choong, C.S., Xuewu, X., Dominguez, R.P., Kuznetsov, A.I., Krishna, P., Keyi, P., Chai, K.T.C., Do, A.T.

“…This work proposes a compact 9T SRAM-based pixel design for low-voltage and high-speed modulator for spatially varying modulation of light (i.e. SLM). To…”
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DICER1 hotspot mutations in non-epithelial gonadal tumours by Witkowski, L, Mattina, J, Schönberger, S, Murray, M J, Choong, C S, Huntsman, D G, Reis-filho, J S, Mccluggage, W G, Nicholson, J C, Coleman, N, Calaminus, G, Schneider, D T, Arseneau, J, Stewart, C J R, Foulkes, W D

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Congenital varicella syndrome in the absence of cutaneous lesions by Choong, Cs, Patole, S, Whitehall, J

“…: A case of congenital varicella syndrome characterized by intrauterine growth retardation, ocular and neurologic abnormalities, but no cutaneous lesions is…”
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Recognition of functional pulmonary atresia by color doppler echocardiography by Lee, Cheng-Liang, Hsieh, Kai-Sheng, Huang, Ta-Cheng, Lin, Chu-Chung, Choong, Choun-Seng

“…Vigorous crying aids right ventricular ejection into the pulmonary artery. This phenomenon can differentiate functional pulmonary atresia from anatomic…”
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21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia by Jeske, Y W A, McGown, I N, Harris, M, Bowling, F G, Choong, C S Y, Cowley, D M, Cotterill, A M

“…Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene…”
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Spontaneous resolution of hemolysis after partial coil occlusion of ductus arteriosus by Lee, C, Hsieh, K, Huang, T, Choong, C

“…Hemolysis occurred in a 2-year-old girl following partial coil occlusion of a moderate persistent ductus arteriosus. Spontaneous resolution of hemolysis…”
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Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels by Choong, C S, Sturm, M J, Strophair, J A, McCulloch, R K, Tilley, W D, Leedman, P J, Hurley, D M

“…Androgen insensitivity is an X-linked disorder of sexual differentiation resulting from mutations in the androgen receptor (AR) gene. In this paper, we report…”
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Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations by Jeske, Y W A, McGown, I N, Cowley, D M, Oley, C, Thomsett, M J, Choong, C S Y, Cotterill, A M

“…We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was…”
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Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome by Choong, Catherine S., Sturm, Marian J., Strophair, Julie A., McCulloch, Ross K., Hurley, David M.

“…BACKGROUND AND OBJECTIVES Androgen insensitivity syndrome (AIS) is an X‐linked disorder of XY males characterized by varying degrees of impaired…”
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Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement by Boguszewski, Margaret C S, Boguszewski, Cesar L, Chemaitilly, Wassim, Cohen, Laurie E, Gebauer, Judith, Higham, Claire, Hoffman, Andrew R, Polak, Michel, Yuen, Kevin C J, Alos, Nathalie, Antal, Zoltan, Bidlingmaier, Martin, Biller, Beverley M K, Brabant, George, Choong, Catherine S Y, Cianfarani, Stefano, Clayton, Peter E, Coutant, Regis, Cardoso-Demartini, Adriane A, Fernandez, Alberto, Grimberg, Adda, Guðmundsson, Kolbeinn, Guevara-Aguirre, Jaime, Ho, Ken K Y, Horikawa, Reiko, Isidori, Andrea M, Jørgensen, Jens Otto Lunde, Kamenicky, Peter, Karavitaki, Niki, Kopchick, John J, Lodish, Maya, Luo, Xiaoping, McCormack, Ann I, Meacham, Lillian, Melmed, Shlomo, Mostoufi Moab, Sogol, Müller, Hermann L, Neggers, Sebastian J C M M, Aguiar Oliveira, Manoel H, Ozono, Keiichi, Pennisi, Patricia A, Popovic, Vera, Radovick, Sally, Savendahl, Lars, Touraine, Philippe, van Santen, Hanneke M, Johannsson, Gudmundur

“…Growth hormone (GH) has been used for over 35 years, and its safety and efficacy has been studied extensively. Experimental studies showing the permissive role…”
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Parallel determination of von Willebrand factor--Ristocetin and Botrocetin cofactors by Thomas, K B, Tune, E P, Choong, S C

“…The quantitative determinations of von Willebrand Factor (vWF)-Ristocetin cofactor (vWF:RCof) and the Botrocetin cofactor (vWF:BCof) are important parameters…”
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An evaluation of competitor type and size for use in the determination of mRNA by competitive PCR by McCulloch, R K, Choong, C S, Hurley, D M

“…The technique of competitive PCR for measuring mRNA is used widely. Several variations of the method have been reported. We have evaluated some of the commonly…”
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Evolution of the primate androgen receptor: a structural basis for disease by Choong, C S, Kemppainen, J A, Wilson, E M

“…Androgen effects mediated by the androgen receptor (AR) are essential for male reproductive development and virilization. Comparison of AR DNA coding sequence…”
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DICER1 hotspot mutations in non-epithelial gonadal tumours by Witkowski, L, Mattina, J, Schönberger, S, Murray, M J, Huntsman, D G, Reis-Filho, J S, McCluggage, W G, Nicholson, J C, Coleman, N, Calaminus, G, Schneider, D T, Arseneau, J, Stewart, C J R, Foulkes, W D

“…Background: Non-epithelial gonadal tumours largely comprise sex cord-stromal tumours (SCSTs) and germ cell tumours (GCTs). Specific somatic mutations in DICER1…”
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