Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Elizabeth C. Crowne"'
Autor:
Katherine Hawton, Tom Hilliard, Simon C. Langton-Hewer, Christine Burren, Elizabeth C. Crowne, Julian P. Hamilton-Shield, Dinesh Giri
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity and mortality. Diagnosis is often challenging. We describe three cases of ROHHAD with he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0438dd2da4e238c74dd11e9b575d5e6a
https://doi.org/10.1515/jpem-2022-0376
https://doi.org/10.1515/jpem-2022-0376
Autor:
Elanor C. Hinton, Fiona E. Lithander, Rebecca L. Elsworth, Katherine Hawton, Kruthika Narayan, Sophie Szymkowiak, Holly L. Bedford, Nimra Naeem, Ruth Elson, Tashunka Taylor-Miller, Julian P. Hamilton-Shield, Elizabeth C. Crowne
IntroductionCraniopharyngiomas are rare brain tumours (incidence 1.1-1.7 cases/million/year). Although benign, craniopharyngioma causes major endocrine and visual morbidities including hypothalamic obesity, yet mechanisms leading to obesity are poorl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51056e313b2b790d734697f3280cad09
https://doi.org/10.1101/2023.01.10.23284332
https://doi.org/10.1101/2023.01.10.23284332
Autor:
Aliki Perdikari, Jacek Mokrosinski, Tabitha Randell, I. Sadaf Farooqi, Sharon Lim, Fleur Talbot, Rebecca Bounds, Melanie Kershaw, Deepthi Jyothish, Edson Mendes de Oliveira, Tim Cheetham, Antoinette McAulay, Vikram Ayinampudi, Elizabeth C Crowne, Inês Barroso, Peter T Clayton, Praveen Partha, Cristina Matei, Sanjay Gupta, Louise C Wilson, Elana Henning, Keogh Jm, Rachel Ahmed, Natalia Wasiluk
Publikováno v:
New England Journal of Medicine. 385:1581-1592
Background GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::255b2c7cc5235878185fe46e905905d4
https://doi.org/10.1056/nejmoa2103329
https://doi.org/10.1056/nejmoa2103329
Autor:
Katherine Hawton, Tom Hilliard, Simon C Langton-Hewer, Christine Burren, Elizabeth C Crowne, Julian P Hamilton-Shield, Dinesh Giri
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b104c388a366a22db65fe734611d146d
https://doi.org/10.1530/endoabs.78.oc3.1
https://doi.org/10.1530/endoabs.78.oc3.1
Publikováno v:
Hormone research in paediatrics.
Paediatric clinical psychology literature provides applicable evidence for use in specialist health care settings and services. The general approach of psychological care of children and families with paediatric conditions is recognisable as preventa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a753efd39000903b7cd76cc5efd5e4f
https://pubmed.ncbi.nlm.nih.gov/35390804
https://pubmed.ncbi.nlm.nih.gov/35390804
Autor:
Elizabeth C. Crowne, Mark L. Denbow, Nicola Lerpiniere, Karen J. Low, Sherif A. Abdel-Fattah, Lisa Burvill-Holmes, John Barton, Ingrid Scurr
Publikováno v:
Clinical Dysmorphology. 26:107-109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45110d40e5a824f9b92eb32200cc3a2e
https://doi.org/10.1097/mcd.0000000000000150
https://doi.org/10.1097/mcd.0000000000000150
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de20ce52550e374ea3837bd9339d72bf
https://doi.org/10.1530/endoabs.51.p015
https://doi.org/10.1530/endoabs.51.p015
Autor:
Roberto, Salvatori, Serban, Radian, Yoan, Diekmann, Donato, Iacovazzo, Alessia, David, Plamena, Gabrovska, Giorgia, Grassi, Anna-Marie, Bussell, Karen, Stals, Astrid, Weber, Richard, Quinton, Elizabeth C, Crowne, Valentina, Corazzini, Lou, Metherell, Tara, Kearney, Daniel, Du Plessis, Ajay Kumar, Sinha, Atik, Baborie, Anne-Lise, Lecoq, Philippe, Chanson, Olaf, Ansorge, Sian, Ellard, Peter J, Trainer, David, Balding, Mark G, Thomas, Márta, Korbonits
Publikováno v:
European Journal of Endocrinology
Objective Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a3748e3d71620b7e635e2dac7b1ff33
https://pubmed.ncbi.nlm.nih.gov/28634279
https://pubmed.ncbi.nlm.nih.gov/28634279
Autor:
Christina, Wei, Manigandan S, Thyagiarajan, Linda P, Hunt, Julian P H, Shield, Michael C G, Stevens, Elizabeth C, Crowne
Publikováno v:
Pediatric bloodcancer. 62(11)
Survivors of childhood acute lymphoblastic leukaemia (ALL) treated with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have a high cardiometabolic risk despite lacking overt clinical obesity. This study characterised b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f4f507c65b9b4c60299baf6a57b46680
https://pubmed.ncbi.nlm.nih.gov/25989749
https://pubmed.ncbi.nlm.nih.gov/25989749
Autor:
Elizabeth C Crowne, Stephen M Shalet
Publikováno v:
Acta paediatrica Scandinavica. 80(2)
We report two patients who presented in childhood with isolated growth hormone deficiency and in whom progressive loss of anterior function led to panhypopituitarism in early adult life. The need for continued follow-up and reassessment of pituitary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9bdeba3d4fc05fee9ded38899faa83
https://pubmed.ncbi.nlm.nih.gov/1785304
https://pubmed.ncbi.nlm.nih.gov/1785304