Letter: Patient-Guided Improvements for Pediatric Obesity Services

por Auckburally, Sameera, Richardson, Harriet, Skae, Mars
Publicado 2022

Endocrinopathies in Aicardi Goutières syndrome—A descriptive case series

por Worth, Chris, Briggs, Tracy A, Padidela, Raja, Balmer, Eleanor, Skae, Mars
Publicado 2020

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis

por Balasubramanian, Meena, Hobson, Emma, Skae, Mars, McCaughey, Janine, Stephens, David J.
Publicado 2019

Can network biology unravel the aetiology of congenital hyperinsulinism?

por Stevens, Adam, Cosgrove, Karen E, Padidela, Raja, Skae, Mars S, Clayton, Peter E, Banerjee, Indraneel, Dunne, Mark J
Publicado 2013

Central venous catheter-associated thrombosis in children with congenital hyperinsulinism

por Yau, Daphne, Salomon-Estebanez, Maria, Chinoy, Amish, Grainger, John, Craigie, Ross J, Padidela, Raja, Skae, Mars, Dunne, Mark J, Murray, Philip G, Banerjee, Indraneel
Publicado 2019

Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

por Salomon-Estebanez, Maria, Mohamed, Zainab, Michaelidou, Maria, Collins, Hannah, Rigby, Lindsey, Skae, Mars, Padidela, Raja, Rust, Stewart, Dunne, Mark, Cosgrove, Karen, Banerjee, Indraneel, Nicholson, Jacqueline
Publicado 2017

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

por Powell, Philippa D., Bellanné-Chantelot, Christine, Flanagan, Sarah E., Ellard, Sian, Rooman, Raoul, Hussain, Khalid, Skae, Mars, Clayton, Peter, de Lonlay, Pascale, Dunne, Mark J., Cosgrove, Karen E.
Publicado 2011

Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism

por Banerjee, Indraneel, Forsythe, Lynette, Skae, Mars, Avatapalle, Hima Bindu, Rigby, Lindsey, Bowden, Louise E., Craigie, Ross, Padidela, Raja, Ehtisham, Sarah, Patel, Leena, Cosgrove, Karen E., Dunne, Mark J., Clayton, Peter E.
Publicado 2016

Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R)

por Skae, Mars, Avatapalle, Hima Bindu, Banerjee, Indraneel, Rigby, Lindsey, Vail, Andy, Foster, Peter, Charalambous, Christiana, Bowden, Louise, Padidela, Raja, Patel, Leena, Ehtisham, Sarah, Cosgrove, Karen E., Dunne, Mark J., Clayton, Peter E.
Publicado 2014

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

por Han, Bing, Mohamed, Zainab, Estebanez, Maria Salomon, Craigie, Ross J., Newbould, Melanie, Cheesman, Edmund, Padidela, Raja, Skae, Mars, Johnson, Matthew, Flanagan, Sarah, Ellard, Sian, Cosgrove, Karen E., Banerjee, Indraneel, Dunne, Mark J.
Publicado 2017

Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism

por Avatapalle, Hima Bindu, Banerjee, Indraneel, Shah, Sajni, Pryce, Megan, Nicholson, Jacqueline, Rigby, Lindsey, Caine, Louise, Didi, Mohammed, Skae, Mars, Ehtisham, Sarah, Patel, Leena, Padidela, Raja, Cosgrove, Karen E., Dunne, Mark J., Clayton, Peter E.
Publicado 2013

Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease

por Han, Bing, Newbould, Melanie, Batra, Gauri, Cheesman, Edmund, Craigie, Ross J., Mohamed, Zainab, Rigby, Lindsey, Padidela, Raja, Skae, Mars, Mironov, Aleksandr, Starborg, Tobias, Kadler, Karl E., Cosgrove, Karen E., Banerjee, Indraneel, Dunne, Mark J.
Publicado 2016

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

por Shimomura, Kenju, Flanagan, Sarah E, Zadek, Brittany, Lethby, Mark, Zubcevic, Lejla, Girard, Christophe A J, Petz, Oliver, Mannikko, Roope, Kapoor, Ritika R, Hussain, Khalid, Skae, Mars, Clayton, Peter, Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M
Publicado 2009

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

por Salomon-Estebanez, Maria, Flanagan, Sarah E., Ellard, Sian, Rigby, Lindsey, Bowden, Louise, Mohamed, Zainab, Nicholson, Jacqueline, Skae, Mars, Hall, Caroline, Craigie, Ross, Padidela, Raja, Murphy, Nuala, Randell, Tabitha, Cosgrove, Karen E., Dunne, Mark J., Banerjee, Indraneel
Publicado 2016

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions

por Craigie, Ross J., Salomon-Estebanez, Maria, Yau, Daphne, Han, Bing, Mal, Walaa, Newbould, Melanie, Cheesman, Edmund, Bitetti, Stefania, Mohamed, Zainab, Sajjan, Rakesh, Padidela, Raja, Skae, Mars, Flanagan, Sarah, Ellard, Sian, Cosgrove, Karen E., Banerjee, Indraneel, Dunne, Mark J.
Publicado 2018

THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, Salles, Jean Pierre, Leiva-Gea, Antonio, Irving, Melita, Saraff, Vrinda, McDevitt, Helen, Salcedo, Maria, Nicolino, Marc P, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Candler, Toby, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Muslimova, Elena, Cho, Terry, Weng, Richard, Rogoff, Daniela
Publicado 2023

RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia

por Irving, Melita, De Bergua, Josep Maria, Rogoff, Daniela, Savarirayan, Ravi, Arundel, Paul, Pierre Salles, Jean, Leiva-Gea, Antonio, Saraff, Vrinda, McDevitt, Helen, Santos-Simarro, Fernando, Nicolino, Marc, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Burren, Christine, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Weng, Richard, Muslimova, Elena, Cho, Terry
Publicado 2022

PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study

por Rogoff, Daniela, Bergua, Josep Maria De, Savarirayan, Ravi, Arundel, Paul, Salles, Jean Pierre, Leiva-Gea, Antonio, Irving, Melita, Saraff, Vrinda, McDevitt, Helen, Santos-Simarro, Fernando, Nicolino, Marc, Cormier-Daire, Valerie, Kannu, Peter, Skae, Mars, Bober, Michael B, Phillips III, John, Burren, Christine, Harmatz, Paul, Saal, Howard, Hoover-Fong, Julie, Muslimova, Elena, Cho, Terry, Weng, Richard
Publicado 2022

THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Salcedo, Maria, Salles, Jean-Pierre, Nicolino, Marc P, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B, Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Candler, Toby, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2023

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2022