Search Results - "S Choong, Catherine"

Germ-line and somatic DICER1 mutations in pineoblastoma by de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S., Gottardo, Nicholas G., Kees, Ursula R., Rednam, Surya P., van Hest, Liselotte P., Jongmans, Marjolijn C., Jhangiani, Shalini, Lupski, James R., Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R., Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G., Foulkes, William D.

“…Germ-line RB - 1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a…”
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Exercise training improves vascular function and secondary health measures in survivors of pediatric oncology related cerebral insult by Long, Treya M, Rath, Shoshana R, Wallman, Karen E, Howie, Erin K, Straker, Leon M, Bullock, Andrew, Walwyn, Thomas S, Gottardo, Nicholas G, Cole, Catherine H, Choong, Catherine S, Naylor, Louise H

“…Adolescent and young adult (AYA) survivors of pediatric oncology related cerebral insult are vulnerable to numerous treatment-induced deficits that…”
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Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma by de Kock, Leanne, Rivera, Barbara, Revil, Timothée, Thorner, Paul, Goudie, Catherine, Bouron-Dal Soglio, Dorothée, Choong, Catherine S, Priest, John R, van Diest, Paul J, Tanboon, Jantima, Wagner, Anja, Ragoussis, Jiannis, Choong, Peter FM, Foulkes, William D

“…Background: Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development. Methods: The coding region of…”
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Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection by Abraham, Mary B, Larkins, Nicholas, Choong, Catherine S, Shetty, Vinutha B

“…Aim Hyponatraemia with hyperkalaemia in infancy is a typical presentation of congenital adrenal hyperplasia. In the presence of pyelonephritis, the same…”
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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study by Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C, Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N, Gabrovska, Plamena, Larkin, Sarah J, Ansorge, Olaf, Rodd, Celia, Vance, Mary L, Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P, Buchfelder, Michael, Burren, Christine P, Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S, Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A, Lopes, Maria-Beatriz, Grossman, Ashley B, Trouillas, Jacqueline, Lupski, James R, Ellard, Sian, Sampson, Julian R, Roncaroli, Federico, Korbonits, Márta

“…Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG)…”
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Multinodular Goiter in Children: An Important Pointer to a Germline DICER1 Mutation by Rath, Shoshana R, Bartley, Anthony, Charles, Adrian, Powers, Neil, Baynam, Gareth, Jones, Timothy, Priest, John R, Foulkes, William D, Choong, Catherine S. Y

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Growth Hormone Research Society perspective on biomarkers of GH action in children and adults by Johannsson, Gudmundur, Bidlingmaier, Martin, Biller, Beverly M K, Boguszewski, Margaret, Casanueva, Felipe F, Chanson, Philippe, Clayton, Peter E, Choong, Catherine S, Clemmons, David, Dattani, Mehul, Frystyk, Jan, Ho, Ken, Hoffman, Andrew R, Horikawa, Reiko, Juul, Anders, Kopchick, John J, Luo, Xiaoping, Neggers, Sebastian, Netchine, Irene, Olsson, Daniel S, Radovick, Sally, Rosenfeld, Ron, Ross, Richard J, Schilbach, Katharina, Solberg, Paulo, Strasburger, Christian, Trainer, Peter, Yuen, Kevin C J, Wickstrom, Kerstin, Jorgensen, Jens O L

“…Objective The Growth Hormone Research Society (GRS) convened a Workshop in 2017 to evaluate clinical endpoints, surrogate endpoints and biomarkers during GH…”
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Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome by Abraham, Mary B, Carpenter, Karen, Baynam, Gareth S, Mackay, Deborah JG, Price, Glynis, Choong, Catherine S

“…Silver–Russell syndrome (SRS) and Mayer‐Rokitansky‐Küster‐Hauser (MRKH) syndrome are described in isolation. However, their co‐occurrence has only been rarely…”
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Early markers of cardiovascular injury in childhood leukaemia survivors treated with anthracycline chemotherapy by Long, Treya M, Marsh, Channa E, Dembo, Lawrence G, Watson, Philip, Wallman, Karen E, Walwyn, Thomas S, Choong, Catherine S, Naylor, Louise H

“…Cardiovascular disease (CVD) is the leading non-malignant cause of death in childhood cancer survivors. Heightened risk of CVD is often attributable to…”
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Hospitalizations and Cost of Inpatient Care for Physical Diseases in Survivors of Childhood Cancer in Western Australia: A Longitudinal Matched Cohort Study by Abdalla, Tasnim, Walwyn, Thomas, White, Daniel, Choong, Catherine S., Bulsara, Max, Preen, David B., Ohan, Jeneva L.

“…Abstract Background: The long-term effects of childhood cancer are unclear in the Australian context. We examined hospitalization trends for physical diseases…”
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Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome by Schofield, Cara, Martin, Karen, S Choong, Catherine, Gibson, David, Skoss, Rachel, Downs, Jenny

“…•A TIP framework can be used to map support for young people with complex needs.•Novel domains specific to PWS aided the development of support…”
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How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There’s a Lot More to My Child Than That She Can’t Wash or Dress Herself.” by Blackmore, A. Marie, Mulhern, Brendan, Norman, Richard, Reddihough, Dinah, Choong, Catherine S., Jacoby, Peter, Downs, Jenny

“…The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for…”
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Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability by Downs, Jenny, Norman, Richard, Mulhern, Brendan, Jacoby, Peter, Reddihough, Dinah, Choong, Catherine S., Finlay-Jones, Amy, Blackmore, A. Marie

“…The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional…”
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A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes by Bouron-Dal Soglio, Dorothée, de Kock, Leanne, Gauci, Richard, Sabbaghian, Nelly, Thomas, Elizabeth, Atkinson, Helen C., Pachter, Nicholas, Ryan, Simon, Walsh, John P., Kumarasinghe, M. Priyanthi, Carpenter, Karen, Aydoğan, Ayça, Stewart, Colin J.R., Foulkes, William D., Choong, Catherine S.

“…Background: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an…”
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Psychiatric disorders in childhood cancer survivors: A retrospective matched cohort study of inpatient hospitalisations and community-based mental health services utilisation in Western Australia by Abdalla, Tasnim, Preen, David B, Pole, Jason D, Walwyn, Thomas, Bulsara, Max, Ives, Angela, Choong, Catherine S, Ohan, Jeneva L

“…Objective: We examined the impact of long-term mental health outcomes on healthcare services utilisation among childhood cancer survivors in Western Australia…”
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The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia by Vijayanand, Sathyakala, Stevenson, Paul G, Grant, Maree, Choong, Catherine S, Davis, Elizabeth A, Abraham, Mary B

“…Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes; especially in children with…”
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Response to growth hormone treatment in Prader-Willi syndrome: Auxological criteria versus genetic diagnosis by Scheermeyer, Elly, Hughes, Ian, Harris, Mark, Ambler, Geoff, Crock, Patricia, Verge, Charles F, Craig, Maria E, Bergman, Phil, Werther, George, van Driel, Mieke, Davies, Peter SW, Choong, Catherine SY

“…Aim The Australian Prader‐Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study…”
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Strengths and challenging behaviors in children and adolescents with Prader‐Willi syndrome: Two sides to the coin by Downs, Jenny, Blackmore, A. Marie, Chen, Wai, Nixon, Gillian M., Choong, Catherine S.

“…Prader‐Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the…”
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Extending the phenotypes associated with DICER1 mutations by Foulkes, William D., Bahubeshi, Amin, Hamel, Nancy, Pasini, Barbara, Asioli, Sofia, Baynam, Gareth, Choong, Catherine S., Charles, Adrian, Frieder, Richard P., Dishop, Megan K., Graf, Nicole, Ekim, Mesiha, Bouron-Dal Soglio, Dorothée, Arseneau, Jocelyne, Young, Robert H., Sabbaghian, Nelly, Srivastava, Archana, Tischkowitz, Marc D., Priest, John R.

“…DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands…”
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Increased Body Mass Index during Therapy for Childhood Acute Lymphoblastic Leukemia: A Significant and Underestimated Complication by Choong, Catherine S., Cole, Catherine H., Walwyn, Thomas, Taylor, Mandy, Gough, Hazel, Kotecha, Rishi S., Rath, Shoshana R., Marsh, Julie A., Atkinson, Helen C., Gottardo, Nicholas G.

“…Objective & Design. We undertook a retrospective review of children diagnosed with acute lymphoblastic leukemia (ALL) and treated with modern COG protocols…”
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