Efficacy of Hydrochlorothiazide and low renal solute feed in Neonatal Central Diabetes Insipidus with transition to Oral Desmopressin in early infancy

por Abraham, Mary B, Rao, Shripada, Price, Glynis, Choong, Catherine S
Publicado 2014

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance

por Sanderson, Elaine E, Shah, Mark, Hooper, Amanda J, Bell, Damon A, Choong, Catherine S
Publicado 2021

Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

por Abraham, Mary, Dong, Li, Rath, Shoshana, O’Connell, Susan, McKenzie, Fiona, Hakonarson, Hakon, Choong, Catherine S, Levine, Michael
Publicado 2015

Early markers of cardiovascular injury in childhood leukaemia survivors treated with anthracycline chemotherapy

por Long, Treya M., Marsh, Channa E., Dembo, Lawrence G., Watson, Philip, Wallman, Karen E., Walwyn, Thomas S., Choong, Catherine S., Naylor, Louise H.
Publicado 2019

Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule

por Joshi, Kiranjit, Sim, George, Lannigan, Francis, Frost, Felicity, Kumarsinghe, Priyanthi, Thomas, Elizabeth, Price, Glynis, Nguyen, Hieu, Baynam, Gareth, Charles, Adrien, Choong, Catherine
Publicado 2015

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

por Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Publicado 2015

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

por Abraham, Mary B., Li, Dong, Tang, Dave, O’Connell, Susan M., McKenzie, Fiona, Lim, Ee Mun, Hakonarson, Hakon, Levine, Michael A., Choong, Catherine S.
Publicado 2017

Increased Body Mass Index during Therapy for Childhood Acute Lymphoblastic Leukemia: A Significant and Underestimated Complication

por Atkinson, Helen C., Marsh, Julie A., Rath, Shoshana R., Kotecha, Rishi S., Gough, Hazel, Taylor, Mandy, Walwyn, Thomas, Gottardo, Nicholas G., Cole, Catherine H., Choong, Catherine S.
Publicado 2015

Response to low dose growth hormone treatment in infants and toddlers with Prader-Willi Syndrome

por Scheermeyer, Elly, Harris, Mark, Hughes, Ian, Crock, Patricia A, Ambler, Geoffrey, Verge, Charles F, Bergman, Phil, Werther, George, Craig, Maria E, Choong, Catherine S, Davies, Peter SW
Publicado 2015

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY diff...

por Ayers, Katie, van den Bergen, Jocelyn, Robevska, Gorjana, Listyasari, Nurin, Raza, Jamal, Atta, Irum, Riedl, Stefan, Rothacker, Karen, Choong, Catherine, Faradz, Sultana M H, Sinclair, Andrew
Publicado 2019

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

por Wu, Joyce Y, McGown, Ivan N, Lin, Lin, Achermann, John C, Harris, Mark, Cowley, David M, Aftimos, Salim, Neville, Kristen A, Choong, Catherine S, Cotterill, Andrew M
Publicado 2013

Ski-interacting protein (SKIP) interacts with androgen receptor in the nucleus and modulates androgen-dependent transcription

por Abankwa, Daniel, Millard, Susan M, Martel, Nick, Choong, Catherine S, Yang, Miao, Butler, Lisa M, Buchanan, Grant, Tilley, Wayne D, Ueki, Nobuhide, Hayman, Michael J, Leong, Gary M
Publicado 2013

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report

por Abraham, Mary, Flanagan, Sarah, Shetty, Vinutha, Price, Glynis, deBock, Martin, Siafarikas, Aris, Ellard, Sian, Resnick, Steven, Whan, Elizabeth, Davis, Elizabeth, Jones, Timothy, Hussain, Khalid, Choong, Catherine
Publicado 2015

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

por Rothacker, Karen M., Ayers, Katie L., Tang, Dave, Joshi, Kiranjit, van den Bergen, Jocelyn A., Robevska, Gorjana, Samnakay, Naeem, Nagarajan, Lakshmi, Francis, Kate, Sinclair, Andrew H., Choong, Catherine S.
Publicado 2018

Exercise training improves vascular function and secondary health measures in survivors of pediatric oncology related cerebral insult

por 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.
Publicado 2018

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

por 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
Publicado 2017

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

por Choong, Catherine S., Nixon, Gillian M., Blackmore, A. Marie, Chen, Wai, Jacoby, Peter, Leonard, Helen, Lafferty, Antony R., Ambler, Geoff, Kapur, Nitin, Bergman, Philip B., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine, Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Wilson, Andrew, Downs, Jenny
Publicado 2022

Sleep‐disordered breathing in Australian children with Prader‐Willi syndrome following initiation of growth hormone therapy

por Caudri, Daan, Nixon, Gillian M, Nielsen, Aleisha, Mai, Linda, Hafekost, Claire R, Kapur, Nitin, Seton, Chris, Tai, Andrew, Blecher, Greg, Ambler, Geoff, Bergman, Philip B, Vora, Komal A, Crock, Patricia, Verge, Charles F, Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R, Jacoby, Peter, Wilson, Andrew C, Downs, Jenny, Choong, Catherine S
Publicado 2021

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

por Mackay, Jessica, McCallum, Zoe, Ambler, Geoffrey R, Vora, Komal, Nixon, Gillian, Bergman, Philip, Shields, Nora, Milner, Kate, Kapur, Nitin, Crock, Patricia, Caudri, Daan, Curran, Jaqueline, Verge, Charles, Seton, Chris, Tai, Andrew, Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R, Blecher, Greg, Harper, Jessica, Schofield, Cara, Nielsen, Aleisha, Wilson, Andrew, Leonard, Helen, Choong, Catherine S, Downs, Jenny
Publicado 2019

Growth Hormone Research Society perspective on biomarkers of GH action in children and adults

por 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
Publicado 2018