Search Results - "Chew, Shern"

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers by Smith, Philip J., Zhang, Chaolin, Wang, Jinhua, Chew, Shern L., Zhang, Michael Q., Krainer, Adrian R.

“…Numerous disease-associated point mutations exert their effects by disrupting the activity of exonic splicing enhancers (ESEs). We previously derived position…”
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Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study by Alexandraki, Krystallenia I, Kaltsas, Gregory A, Isidori, Andrea M, Storr, Helen L, Afshar, Farhad, Sabin, Ian, Akker, Scott A, Chew, Shern L, Drake, William M, Monson, John P, Besser, G Michael, Grossman, Ashley B

“…ObjectiveTo investigate the early and late outcomes of patients with Cushing's disease (CD) submitted to a neurosurgical procedure as first-line…”
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Listening to silence and understanding nonsense: exonic mutations that affect splicing by Krainer, Adrian R, Cartegni, Luca, Chew, Shern L

“…Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the encoded proteins. However,…”
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Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD by Ricketts, Christopher J, Forman, Julia R, Rattenberry, Eleanor, Bradshaw, Nicola, Lalloo, Fiona, Izatt, Louise, Cole, Trevor R, Armstrong, Ruth, Kumar, V.K. Ajith, Morrison, Patrick J, Atkinson, A. Brew, Douglas, Fiona, Ball, Steve G, Cook, Jackie, Srirangalingam, Umasuthan, Killick, Pip, Kirby, Gail, Aylwin, Simon, Woodward, Emma R, Evans, D. Gareth R, Hodgson, Shirley V, Murday, Vicky, Chew, Shern L, Connell, John M, Blundell, Tom L, MacDonald, Fiona, Maher, Eamonn R

“…Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas…”
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Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers by Tufton, Nicola, Shapiro, Lucy, Srirangalingam, Umasuthan, Richards, Polly, Sahdev, Anju, Kumar, Ajith V., McAndrew, Lorraine, Martin, Lee, Berney, Daniel, Monson, John, Chew, Shern L., Waterhouse, Mona, Druce, Maralyn, Korbonits, Márta, Metcalfe, Karl, Drake, William M., Storr, Helen L., Akker, Scott A.

“…Summary Objective For ‘asymptomatic carriers’ of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the…”
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Diagnosing unilateral primary aldosteronism - comparison of a clinical prediction score, computed tomography and adrenal venous sampling by Sze, W. C. Candy, Soh, Lip Min, Lau, Jeshen H., Reznek, Rodney, Sahdev, Anju, Matson, Matthew, Riddoch, Fiona, Carpenter, Robert, Berney, Dan, Grossman, Ashley B., Chew, Shern L., Akker, Scott A., Druce, Maralyn R., Waterhouse, Mona, Monson, John P., Drake, William M.

“…Summary Context In patients with primary aldosteronism (PA), adrenalectomy is potentially curative for those correctly identified as having unilateral…”
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Single photon emission computed tomography (SPECT)/computed tomography using Iodine-123 in patients with differentiated thyroid cancer: additional value over whole body planar imaging and SPECT by Barwick, Tara, Murray, Iain, Megadmi, Hakim, Drake, William M, Plowman, P Nick, Akker, Scott A, Chew, Shern L, Grossman, Ashley B, Avril, Norbert

“…ObjectiveThe aim of the study was to assess the diagnostic performance of co-registered single photon emission computed tomography (SPECT)/computed tomography…”
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Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma by Jafri, Mariam, Whitworth, James, Rattenberry, Eleanor, Vialard, Lindsey, Kilby, Gail, Kumar, Ajith V., Izatt, Louise, Lalloo, Fiona, Brennan, Paul, Cook, Jackie, Morrison, Patrick J., Canham, Natalie, Armstrong, Ruth, Brewer, Carole, Tomkins, Susan, Donaldson, Alan, Barwell, Julian, Cole, Trevor R., Atkinson, A. Brew, Aylwin, Simon, Ball, Steve G., Srirangalingam, Umasuthan, Chew, Shern L., Evans, Dafydd Gareth R, Hodgson, Shirley V., Irving, Richard, Woodward, Emma, Macdonald, Fiona, Maher, Eamonn R.

“…Summary Objectives Research studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited…”
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A Comparison of the Blood Glucose, Growth Hormone, and Cortisol Responses to Two Doses of Insulin (0.15 U/kg vs. 0.10 U/kg) in the Insulin Tolerance Test: A Single-Centre Audit of 174 Cases by Yeoh, Phillip, Dwyer, Andrew A., Anghel, Ella, Bouloux, Pierre M., Khoo, Bernard, Chew, Shern, Wernig, Florian, Carroll, Paul, Aylwin, Simon J. B., Baldeweg, Stephanie E., Drake, William, Todd, Jeannie, Mangena, Lindiwe, Grossman, Ashley

“…Objective. The insulin tolerance test (ITT) is the gold standard endocrine test used to assess the integrity of the growth hormone (GH) and cortisol axes. The…”
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Unmasking of central hypothyroidism following growth hormone replacement in adult hypopituitary patients by Agha, Amar, Walker, Dorothy, Perry, Les, Drake, William M., Chew, Shern L., Jenkins, Paul J., Grossman, Ashley B., Monson, John P.

“…Summary Background  The effect of GH replacement on thyroid function in hypopituitary patients has hitherto been studied in small groups of children and adults…”
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The prevalence and characteristic features of cyclicity and variability in Cushing's disease by Alexandraki, Krystallenia I, Kaltsas, Gregory A, Isidori, Andrea M, Akker, Scott A, Drake, William M, Chew, Shern L, Monson, John P, Besser, G Michael, Grossman, Ashley B

“…ObjectiveCyclical Cushing's syndrome may render the diagnosis and management of Cushing's disease difficult. The aim of the present study was to investigate…”
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Diagnosis and localisation of insulinoma: the value of modern magnetic resonance imaging in conjunction with calcium stimulation catheterisation by Druce, Maralyn R, Muthuppalaniappan, Vasantha M, O'Leary, Benjamin, Chew, Shern L, Drake, William M, Monson, John P, Akker, Scott A, Besser, Michael, Sahdev, Anju, Rockall, Andrea, Vyas, Soumil, Bhattacharya, Satya, Matson, Matthew, Berney, Daniel, Grossman, Ashley B

“…ContextPreoperative localisation of insulinoma improves cure rate and reduces complications, but may be challenging.ObjectiveTo review diagnostic features and…”
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Diagnosis Imaging of pheochromocytomas and paragangliomas by Chew, Shern L

“…Pheochromocytomas and paragangliomas are rare tumors, but their investigation and management are complex and expensive, both in terms of time and resources. a…”
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Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers by Srirangalingam, Umasuthan, Walker, Lisa, Khoo, Bernard, MacDonald, Fiona, Gardner, Daphne, Wilkin, Terence J., Skelly, Robert H., George, Emad, Spooner, David, Monson, John P., Grossman, Ashley B., Akker, Scott A., Pollard, Patrick J., Plowman, Nick, Avril, Norbert, Berney, Daniel M., Burrin, Jacky M., Reznek, Rodney H., Kumar, V.K. Ajith, Maher, Eamonn R., Chew, Shern L.

“…Summary Objective  Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations…”
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Imaging of pheochromocytomas and paragangliomas by Chew, Shern L.

“…Pheochromocytomas and paragangliomas are rare tumors, but their investigation and management are complex and expensive, both in terms of time and resources. A…”
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Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB by Khoo, Bernard, Roca, Xavier, Chew, Shern L, Krainer, Adrian R

“…Apolipoprotein B (APOB) is an integral part of the LDL, VLDL, IDL, Lp(a) and chylomicron lipoprotein particles. The APOB pre-mRNA consists of 29…”
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A prospective evaluation of postural stimulation testing, computed tomography and adrenal vein sampling in the differential diagnosis of primary aldosteronism by Lau, Jeshen H. G., Candy Sze, W. C., Reznek, Rodney H., Matson, Matthew, Sahdev, Anju, Carpenter, Robert, Berney, Daniel M., Akker, Scott A., Chew, Shern L., Grossman, Ashley B., Monson, John P., Drake, William M.

“…Summary Context  In primary aldosteronism (PA), discriminating unilateral from bilateral disease is crucial because adrenalectomy is frequently curative in the…”
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Evaluation of an enzyme immunoassay for plasma-free metanephrines in the diagnosis of catecholamine-secreting tumors by Procopiou, Michel, Finney, Hazel, Akker, Scott A, Chew, Shern L, Drake, William M, Burrin, Jacky, Grossman, Ashley B

“…ObjectiveTo define the test characteristics of an enzyme immunoassay (EIA) for plasma-free metanephrines (metanephrine and normetanephrine) in the diagnosis of…”
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CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas) by Sahdev, Anju, Sohaib, A, Monson, John P, Grossman, Ashley B, Chew, Shern L, Reznek, Rodney H

“…Our review was undertaken to describe CT and MRI features of unusual extra-adrenal paragangliomas (pheochromocytomas). We retrospectively reviewed CT and MRI…”
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Discriminatory Value of the Low-Dose Dexamethasone Suppression Test in Establishing the Diagnosis and Differential Diagnosis of Cushing’s Syndrome by Isidori, Andrea M., Kaltsas, Gregory A., Mohammed, Shahid, Morris, Damian G., Jenkins, Paul, Chew, Shern L., Monson, John P., Besser, G. Michael, Grossman, Ashley B.

“…Cushing’s syndrome requires a screening test of high sensitivity, followed by biochemical evaluation of the source of the tumor when the cause is ACTH…”
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