Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study
- Creator: Mackay, Jessica , Nixon, Gillian M. , Vora, Komal , Crock, Patricia , Verge, Charles , Musthaffa, Yassmin , Blecher, Greg , Caudri, Daan , Leonard, Helen , Jacoby, Peter , Wilson, Andrew , Choong, Catherine S. , Lafferty, Antony R. , Downs, Jenny , Ambler, Geoff , Kapur, Nitin , Bergman, Philip B. , Schofield, Cara , Seton, Chris , Tai, Andrew , Tham, Elaine
- Resource Type: journal article
- Date: 2022
Autoimmune gastritis and parietal cell reactivity in two children with abnormal intestinal permeability
- Creator: Greenwood, Deanne L. V. , Crock, Patricia , Braye, Stephen , Davidson, Patricia , Sentry, John W.
- Resource Type: journal article
- Date: 2008
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients
- Creator: Sahakitrungruang, Taninee , Huang, Ningwu , Tee, Meng Kian , Agrawal, Vishal , Russell, William E. , Crock, Patricia , Murphy, Nuala , Migeon, Claude J. , Miller, Walter L.
- Resource Type: journal article
- Date: 2009
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
- Creator: Thorwarth, Anne , Schnittert-Hüebener, Sarah , Ebert, Grit , Steininger, Anne , Böennemann, Carsten , Brockmann, Knut , Christen, Hans-Jürgen , Crock, Patricia , deZegher, Francis , Griese, Matthias , Hewitt, Jacqueline , Ivarsson, Sten , Schrumpf, Pamela , Hüebner, Christoph , Kapelari, Klaus , Plecko, Barbara , Rating, Dietz , Stoeva, Iva , Ropers, Hans-Hilger , Grüeters, Annette , Ullmann, Reinhard , Krude, Heiko , Müeller, Ines , Jyrch, Sabine , Dame, Christof , Biebermann, Heike , Kleinau, Gunnar , Katchanov, Juri , Schuelke, Markus
- Resource Type: journal article
- Date: 2014
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
- Creator: Choong, Catherine S. , Nixon, Gillian M. , Schofield, Cara , Seton, Chris , Tai, Andrew , Tham, Elaine , Vora, Komal , Crock, Patricia , Verge, Charles , Musthaffa, Yassmin , Blecher, Greg , Wilson, Andrew , Blackmore, A. Marie , Downs, Jenny , Chen, Wai , Jacoby, Peter , Leonard, Helen , Lafferty, Antony R. , Ambler, Geoff , Kapur, Nitin , Bergman, Philip B.
- Resource Type: journal article
- Date: 2022
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
- Creator: Groeneweg, Stefan , van Geest, Ferdy S. , Brunetti-Pierri, Nicola , Bugiani, Marianna , Cappa, Marco , Cappuccio, Gerarda , Castellotti, Barbara , Castiglioni, Claudia , Chatterjee, Krishna , de Coo, Irenaeus F. M. , Coutant, Régis , Craiu, Dana , Abaci, Ayhan , Crock, Patricia , DeGoede, C , Demir, K , Dica, A , Dimitri, P , Dolcetta-Capuzzo, A , Dremmen, MHG , Dubey, R , Enderli, A , Fairchild, J , Alcantud, Alberto , Gallichan, J , George, B , Gevers, EF , Hackenberg, A , Halász, Z , Heinrich, B , Huynh, T , Klosowska, A , van der Knaap, MS , van der Knoop, MM , Ambegaonkar, Gautem P. , Konrad, D , Koolen, DA , Krude, H , Lawson-Yuen, A , Lebl, J , Linder-Lucht, M , Lorea, CF , Lourenço, CM , Lunsing, RJ , Lyons, G , Armour, Christine M. , Malikova, J , Mancilla, EE , McGowan, A , Mericq, V , Lora, FM , Moran, C , Müller, KE , Oliver-Petit, I , Paone, L , Paul, PG , Bakhtiani, Priyanka , Polak, M , Porta, F , Poswar, FO , Reinauer, C , Rozenkova, K , Menevse, TS , Simm, P , Simon, A , Singh, Y , Spada, M , Barca, Diana , van der Spek, J , Stals, MAM , Stoupa, A , Subramanian, Gopinath M. , Tonduti, D , Turan, S , den Uil, CA , Vanderniet, Joel , van der Walt, A , Wémeau, JL , Bertini, Enrico S. , Wierzba, J , de Wit, MCY , Wolf, NI , Wurm, M , Zibordi, F , Zung, A , Zwaveling-Soonawala, N , Visser, WE , van Beynum, Ingrid M.
- Resource Type: journal article
- Date: 2020
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
- Creator: Eggers, Stefanie , Sadedin, Simon , Cameron, Fergus , Werther, George , Hutson, John , O'Connell, Michele , Grover, Sonia R. , Heloury, Yves , Zacharin, Margaret , Bergman, Philip , Kimber, Chris , Brown, Justin , van den Bergen, Jocelyn A. , Webb, Nathalie , Hunter, Matthew F. , Srinivasan, Shubha , Titmuss, Angela , Verge, Charles F. , Mowat, David , Smith, Grahame , Smith, Janine , Ewans, Lisa , Shalhoub, Carolyn , Robevska, Gorjana , Crock, Patricia , Cowell, Chris , Leong, Gary M. , Ono, Makato , Lafferty, Antony R. , Huynh, Tony , Visser, Uma , Choong, Catherine S. , McKenzie, Fiona , Pachter, Nicholas , Ohnesorg, Thomas , Thompson, Elizabeth M. , Couper, Jennifer , Baxendale, Anne , Gecz, Jozef , Wheeler, Benjamin J. , Jefferies, Craig , MacKenzie, Karen , Hofman, Paul , Carter, Philippa , King, Richard I. , Hewitt, Jacqueline , Krausz, Csilla , van Ravenswaaij-Arts, Conny M. A. , Looijenga, Leendert , Drop, Sten , Riedl, Stefan , Cools, Martine , Dawson, Angelika , Juniarto, Achmad Zulfa , Khadilkar, Vaman , Khadilkar, Anuradha , Lambeth, Luke , Bhatia, Vijayalakshmi , Dũng, Vũ Chí , Atta, Irum , Raza, Jamal , thi Diem Chi, Nguyen , Hao, Tran Kiem , Harley, Vincent , Koopman, Peter , Warne, Garry , Faradz, Sultana , Bouty, Aurore , Oshlack, Alicia , Ayers, Katie L. , Sinclair, Andrew H. , Knarston, Ingred M. , Tan, Tiong Yang
- Resource Type: journal article
- Date: 2016
Evaluation of a novel continuous glucose monitoring guided system for adjustment of insulin dosing: PumpTune: a randomized controlled trial
- Creator: Anderson, Donald , Phelan, Helen , Jones, Katie , Smart, Carmel , Oldmeadow, Christopher , King, Bruce , Crock, Patricia
- Resource Type: journal article
- Date: 2016
Growth hormone improves cognitive function after experimental stroke
- Creator: Ong, Lin Kooi , Chow, Wei Zhen , Walker, Frederick R. , Nilsson, Michael , Isgaard, Jörgen , Tebay, Clifford , Kluge, Murielle , Pietrogrande, Giovanni , Zalewska, Katarzyna , Crock, Patricia , Åberg, Daivd , Bivard, Andrew , Johnson, Sarah J.
- Resource Type: journal article
- Date: 2018
Growth Hormone Increases BDNF and mTOR Expression in Specific Brain Regions after Photothrombotic Stroke in Mice
- Creator: Sanchez-Bezanilla, Sonia , Beard, Daniel J. , Hood, Rebecca J. , Åberg, N. David , Crock, Patricia , Walker, Frederick R. , Nilsson, Michael , Isgaard, Jörgen , Ong, Lin Kooi
- Resource Type: journal article
- Date: 2022
Long-Term Efficacy of T3 Analogue Triac in Children and Adults with MCT8 Deficiency: A Real-Life Retrospective Cohort Study
- Creator: van Geest, Ferdy S. , Groeneweg, Stefan , Cappuccio, Gerarda , Chatterjee, Krishna , Chesover, Alexander D. , Christian, Peter , Coutant, Régis , Craiu, Dana , Crock, Patricia , Dewey, Cheyenne , Dica, Alice , Dimitri, Paul , van den Akker, Erica L. T. , Dubey, Rachana , Enderli, A , Fairchild, J , Gallichan, J , Garibaldi, LR , George, B , Hackenberg, A , Heinrich, B , Huynh, T , Klosowska, A , Bacos, Iuliu , Lawson-Yuen, A , Linder-Lucht, M , Lyons, G , Lora, FM , Moran, C , Muller, KE , Paone, L , Paul, PG , Polak, M , Porta, F , Barca, Diana , Reinauer, C , de Rijke, YB , Seckold, Rowen , Menevse, TS , Simm, P , Simon, A , Spada, M , Stoupa, A , Szeifert, L , Tonduti, D , van den Berg, Sjoerd A. A. , van Toor, H , Turan, S , Vanderniet, Joel , de Waart, M , van der Wal, R , van der Walt, A , Van Wermeskerken, A-M , Wierzba, J , Zibordi, F , Zung, A , Bertini, Enrico , Peeters, RP , Visser, WE , Brunner, Doris , Brunetti-Pierri, Nicola , Cappa, Marco
- Resource Type: journal article
- Date: 2021
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants
- Creator: Pisciotta, Livia , Tozzi, Giulia , Vora, Komal , Nightingale, Scott , Michelakakis, Helen , Garoufi, Anastasia , Lykopoulou, Lilia , Bertolini, Stefano , Calandra, Sebastiano , Travaglini, Lorena , Taurisano, Roberta , Lucchi, Tiziano , Indolfi, Giuseppe , Papadia, Francesco , Di Rocco, Maja , D'Antiga, Lorenzo , Crock, Patricia
- Resource Type: journal article
- Date: 2017
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families
- Creator: 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
- Resource Type: journal article
- Date: 2019
Response to growth hormone treatment in Prader - Willi syndrome: auxological criteria versus genetic diagnosis
- Creator: Scheermeyer, Elly , Hughes, Ian , Davies, Peter S. W. , Choong, Catherine S. Y. , Harris, Mark , Ambler, Geoff , Crock, Patricia , Verge, Charles F. , Craig, Maria E. , Bergman, Phil , Werther, George , van Driel, Mieke
- Resource Type: journal article
- Date: 2013
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy
- Creator: Caudri, Daan , Nixon, Gillian M. , 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 , Nielsen, Aleisha , Choong, CS , Mai, Linda , Hafekost, Claire R. , Kapur, Nitin , Seton, Chris , Tai, Andrew , Blecher, Greg , Ambler, Geoff
- Resource Type: journal article
- Date: 2022
Sotos syndrome: an unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor
- Creator: McClelland, Jessie , Burgess, Bronwyn , Crock, Patricia , Goel, Himanshu
- Resource Type: journal article
- Date: 2016
Spontaneous and tetracosactide-induced anti-ACTH antibodies in man
- Creator: Gan, Earn H. , MacArthur, Katie , Mitchell, Anna L. , Joshi, Abhijit , Crock, Patricia , Pearce, Simon H. S.
- Resource Type: journal article
- Date: 2016
Young children with type 1 diabetes can achieve glycemic targets without hypoglycemia: Results of a novel intensive diabetes management program
- Creator: Phelan, Helen , King, Bruce , Anderson, Donald , Crock, Patricia , Lopez, Prudence , Smart, Carmel
- Resource Type: journal article
- Date: 2018