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Letter: Patient-Guided Improvements for Pediatric Obesity Services.
Published in:
Journal of Obesity & Metabolic Syndrome, 2022, v. 31, n. 2, p. 196, doi. 10.7570/jomes22015
By:
- Auckburally, Sameera;
- Richardson, Harriet;
- Skae, Mars
Publication type:
Article
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
Published in:
EMBO Molecular Medicine, 2009, v. 1, n. 3, p. 166, doi. 10.1002/emmm.200900018
By:
- 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.
Publication type:
Article
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI).
Published in:
2017
By:
- 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
Publication type:
journal article
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
Published in:
Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0547-3
By:
- 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
Publication type:
Article
Can network biology unravel the aetiology of congenital hyperinsulinism?
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-21
By:
- Stevens, Adam;
- Cosgrove, Karen E.;
- Padidela, Raja;
- Skae, Mars S.;
- Clayton, Peter E.;
- Banerjee, Indraneel;
- Dunne, Mark J.
Publication type:
Article
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.912
By:
- Balasubramanian, Meena;
- Hobson, Emma;
- Skae, Mars;
- McCaughey, Janine;
- Stephens, David J.
Publication type:
Article
Growth reference charts for children with hypochondroplasia.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
By:
- Cheung, Moira S.;
- Cole, Tim J.;
- Arundel, Paul;
- Bridges, Nicola;
- Burren, Christine P.;
- Cole, Trevor;
- Davies, Justin Huw;
- Hagenäs, Lars;
- Högler, Wolfgang;
- Hulse, Anthony;
- Mason, Avril;
- McDonnell, Ciara;
- Merker, Andrea;
- Mohnike, Klaus;
- Sabir, Ataf;
- Skae, Mars;
- Rothenbuhler, Anya;
- Warner, Justin;
- Irving, Melita
Publication type:
Article
A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2261, doi. 10.1002/ajmg.a.38306
By:
- Parsons, Samuel J. H.;
- Wright, Neville B.;
- Burkitt‐Wright, Emma;
- Skae, Mars S.;
- Murray, Phillip G.
Publication type:
Article
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells.
Published in:
2017
By:
- 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
Publication type:
journal article
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease.
Published in:
2016
By:
- 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
Publication type:
journal article
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease.
Published in:
American Journal of Clinical Pathology, 2016, v. 145, n. 6, p. 757, doi. 10.1093/AJCP/AQW075
By:
- Bing Han;
- 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.
Publication type:
Article
The neuroendocrine sequelae of paediatric craniopharyngioma: a 40-year meta-data analysis of 185 cases from three UK centres.
Published in:
European Journal of Endocrinology, 2017, v. 176, n. 3, p. 359, doi. 10.1530/EJE-16-0812
By:
- Ern Tan, Timothy Shao;
- Patel, Leena;
- Gopal-Kothandapani, Jaya Sujatha;
- Ehtisham, Sarah;
- Ikazoboh, Esieza Clare;
- Hayward, Richard;
- Aquilina, Kristian;
- Skae, Mars;
- Thorp, Nicky;
- Pizer, Barry;
- Didi, Mohammed;
- Mallucci, Conor;
- Blair, Joanne C.;
- Gaze, Mark N.;
- Kamaly-Asl, Ian;
- Spoudeas, Helen;
- Clayton, Peter E.
Publication type:
Article
The association of cardiac ventricular hypertrophy with congenital hyperinsulinism.
Published in:
European Journal of Endocrinology, 2012, v. 167, n. 5, p. 619, doi. 10.1530/EJE-12-0632
By:
- Banerjee, Indraneel;
- Avatapalle, Bindu;
- Petkar, Anjali;
- Skae, Mars;
- Padidela, Raja;
- Ehtisham, Sarah;
- Patel, Leena;
- Rigby, Lindsey;
- Flanagan, Sarah;
- Ellard, Sian;
- Jones, Caroline;
- Ciotti, Giovanna;
- Malaiya, Nilima;
- Clayton, Peter E.
Publication type:
Article
Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention.
Published in:
Journal of Sexual Medicine, 2024, v. 21, n. 5, p. 361, doi. 10.1093/jsxmed/qdae024
By:
- Alderson, Julie;
- Thornton, Maia;
- Skae, Mars;
- Jones, Julie;
- Nicoll, Nicky;
- Harcourt, Diana;
- Woodward, Mark;
- Crowne, Elizabeth C
Publication type:
Article
The management of obesity in children with type 2 diabetes.
Published in:
Diabetes Care for Children & Young People, 2022, v. 11, n. 2, p. 1
By:
- Skae, Mars
Publication type:
Article
Endocrinopathies in Aicardi Goutières syndrome—A descriptive case series.
Published in:
Clinical Case Reports, 2020, v. 8, n. 11, p. 2181, doi. 10.1002/ccr3.3081
By:
- Worth, Chris;
- Briggs, Tracy A;
- Padidela, Raja;
- Balmer, Eleanor;
- Skae, Mars
Publication type:
Article
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
Published in:
Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00619
By:
- 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.
Publication type:
Article
Feeding Problems are Persistent in children with severe congenital hyperinsulinism.
Published in:
Frontiers in Endocrinology, 2016, p. 1, doi. 10.3389/fendo.2016.00008
By:
- 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.;
- Jääskeläinen, Jarmo;
- Saenger, Paul;
- Garibaldi, Luigi R.
Publication type:
Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Published in:
Therapeutic Advances in Musculoskeletal Disease, 2022, p. 1, doi. 10.1177/1759720X221084848
By:
- 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 III, John;
- Saal, Howard;
- Harmatz, Paul;
- Burren, Christine;
- Gotway, Garrett
Publication type:
Article
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).
Published in:
Clinical Endocrinology, 2021, v. 95, n. 6, p. 818, doi. 10.1111/cen.14528
By:
- Ahmed, S. Faisal;
- Achermann, John;
- Alderson, Julie;
- Crouch, Naomi S.;
- Elford, Sue;
- Hughes, Ieuan A.;
- Krone, Nils;
- McGowan, Ruth;
- Mushtaq, Talat;
- O'Toole, Stuart;
- Perry, Leslie;
- Rodie, Martina E.;
- Skae, Mars;
- Turner, Helen E.
Publication type:
Article
Reduced glycemic variability in diazoxide-responsive children with congenital hyperinsulinism using supplemental omega-3-polyunsaturated fatty acids; a pilot trial with MaxEPA<sup>R</sup>\.
Published in:
Frontiers in Endocrinology, 2014, v. 5, p. 1, doi. 10.3389/fendo.2014.00031
By:
- Skae, Mars;
- Bindu Avatapalle, Hima;
- 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.
Publication type:
Article
Abnormal neurodevelopmental outcomes are common in children with transient congenital hyperinsulinism.
Published in:
Frontiers in Endocrinology, 2013, v. 4, p. 1, doi. 10.3389/fendo.2013.00060
By:
- Bindu Avatapalle, Hima;
- 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.
Publication type:
Article
In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy.
Published in:
Diabetes, 2011, v. 60, n. 4, p. 1223, doi. 10.2337/db10-1443
By:
- 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.
Publication type:
Article

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