Zobrazeno 1 - 10
of 72
pro vyhledávání: '"CR Hughes"'
Publikováno v:
Europe PubMed Central
ACTH resistance is a rare disorder typified by familial glucocorticoid deficiency (FGD), a genetically heterogeneous disease. Previously, genetic defects in FGD have been identified in the ACTH receptor gene (MC2R), its accessory protein (MRAP) and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4a9e08042aeefda95542a9e990109bc5
http://europepmc.org/abstract/med/23392095
http://europepmc.org/abstract/med/23392095
Autor:
Man E; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Department of Paediatrics & Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, People's Republic of China., Mushtaq I; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Barnicoat A; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Carmichael P; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Gender Identity Development Service, Tavistock and Portman NHS Foundation Trust, London NW3 5BA, UK., Hughes CR; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Davies K; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Institute of Health and Social Care, London South Bank University, London SE1 0AA, UK., Aitkenhead H; Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Amin R; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Buchanan CR; Department of Child Health, King's College Hospital NHS Foundation Trust, London SE5 9RS, UK., Cherian A; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Costa NJ; Department of Chemical Pathology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Creighton SM; Institute for Women's Health, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK., Duffy PG; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Hewson E; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Hindmarsh PC; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.; Department of Paediatrics, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK., Monzani LC; Department of Clinical Psychology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Peters CJ; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Ransley PG; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Smeulders N; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Spoudeas HA; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Wood D; Department of Urology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Department of Urology, University College London Hospitals NHS Foundation Trust, London NW1 2BU, UK.; Department of Urology, Children's Hospital Colorado and University of Colorado, Aurora, Colorado 80045, USA., Hughes IA; Department of Paediatrics, University of Cambridge, Cambridge CB2 0QQ, UK., Katugampola H; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Brain CE; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Dattani MT; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Achermann JC; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
Publikováno v:
Journal of the Endocrine Society [J Endocr Soc] 2022 Oct 28; Vol. 7 (1), pp. bvac165. Date of Electronic Publication: 2022 Oct 28 (Print Publication: 2022).
Autor:
Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Maharaj A; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Qamar Y; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Koehler K; Children's Hospital, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany., Suntharalingham JP; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Chan LF; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Ferraz-de-Souza B; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Hughes CR; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Lin L; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Prasad R; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Allgrove J; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Andrews ET; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Buchanan CR; Department of Child Health, King's College Hospital NHS Foundation Trust, London, UK., Cheetham TD; Newcastle University and Great North Children's Hospital, Newcastle upon Tyne, UK., Crowne EC; Bristol Royal Hospital for Children, University Hospitals Bristol, NHS Foundation Trust, Bristol, UK., Davies JH; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Gregory JW; Division of Population Medicine, School of Medicine, Cardiff University, Cardiff, UK., Hindmarsh PC; Departments of Paediatrics, University College London Hospitals, London, UK., Hulse T; Paediatric Endocrinology, Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London, UK., Krone NP; Department of Oncology and Metabolism, University of Sheffield, Sheffield Children's Hospital, Sheffield, UK., Shah P; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Shaikh MG; Department of Paediatric Endocrinology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK., Roberts C; Northern Genetics Service, International Centre for Life, Newcastle, UK., Clayton PE; Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, and the Royal Manchester Children's Hospital, Manchester University Hospital NHS Foundation Trust, Manchester, UK., Dattani MT; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK., Huebner A; Children's Hospital, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany., Clark AJ; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Achermann JC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Publikováno v:
Journal of the Endocrine Society [J Endocr Soc] 2021 May 11; Vol. 5 (8), pp. bvab086. Date of Electronic Publication: 2021 May 11 (Print Publication: 2021).
Autor:
Gorzynski JE, De Jong HN, Amar D, Hughes CR, Ioannidis A, Bierman R, Liu D, Tanigawa Y, Kistler A, Kamm J, Kim J, Cappello L, Neff NF, Rubinacci S, Delaneau O, Shoura MJ, Seo K, Kirillova A, Raja A, Sutton S, Huang C, Sahoo MK, Mallempati KC, Montero-Martin G, Osoegawa K, Jimenez-Morales D, Watson N, Hammond N, Joshi R, Fernandez-Vina M, Christle JW, Wheeler MT, Febbo P, Farh K, Schroth G, Desouza F, Palacios J, Salzman J, Pinsky BA, Rivas MA, Bustamante CD, Ashley EA, Parikh VN
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2020 Sep 01. Date of Electronic Publication: 2020 Sep 01.
Autor:
White KAM; Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico., Dailey YT; Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico., Guest DD; Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico., Zielaskowski K; Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York., Robers E; Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico., Sussman A; Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico., Hunley K; Department of Anthropology, University of New Mexico, Albuquerque, New Mexico., Hughes CR; Department of Biology, University of New Mexico, Albuquerque, New Mexico., Schwartz MR; Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico., Kaphingst KA; Communication Department, University of Utah, Salt Lake City, Utah., Buller DB; Klein Buendel, Inc., Golden, Colorado., Hay JL; Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York., Berwick M; Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico. mberwick@salud.unm.edu.; Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico.
Publikováno v:
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Biomarkers Prev] 2019 Nov; Vol. 28 (11), pp. 1853-1856. Date of Electronic Publication: 2019 Sep 05.
Autor:
Maharaj A; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Meimaridou E; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Ruiz-Babot G; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Guasti L; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Peng HM; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan., Capper CP; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan., Burgos-Tirado N; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan., Prasad R; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Hughes CR; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Maudhoo A; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom., Crowne E; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Cheetham TD; Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom., Brain CE; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Suntharalingham JP; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Striglioni N; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Yuksel B; Department of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey., Gurbuz F; Department of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey., Gupta S; Department of Pediatrics, Hull Royal Infirmary, Hull, United Kingdom., Lindsay R; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom., Couch R; Division of Pediatric Endocrinology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Spoudeas HA; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Guran T; Department Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey., Johnson S; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; University of Queensland, Brisbane, Queensland, Australia., Fowler DJ; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; University of Queensland, Brisbane, Queensland, Australia., Conwell LS; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; University of Queensland, Brisbane, Queensland, Australia., McInerney-Leo AM; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia., Drui D; Department of Endocrinology, l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France., Cariou B; INSERM UMR 1087, CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France., Lopez-Siguero JP; Pediatric Endocrinology Unit, Children's Hospital, Institute of Biomedical Research in Malaga, Málaga, Spain., Harris M; Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; University of Queensland, Brisbane, Queensland, Australia., Duncan EL; Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.; Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia., Hindmarsh PC; Department of Paediatrics, University College London Hospitals, London, United Kingdom., Auchus RJ; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.; Department of Pharmacology, University of Michigan, Ann Arbor, Michigan., Donaldson MD; Section of Child Health, Glasgow University School of Medicine, Glasgow, United Kingdom., Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Publikováno v:
Journal of the Endocrine Society [J Endocr Soc] 2018 Oct 30; Vol. 3 (1), pp. 201-221. Date of Electronic Publication: 2018 Oct 30 (Print Publication: 2019).
Autor:
Nichols AL; Department of Chemistry , University of Southern California , Los Angeles , California 90089-1062 , United States., Noridomi K; Molecular and Computational Biology, Department of Biology , University of Southern California , Los Angeles , California 90089-0371 , United States., Hughes CR; Mork Family Department of Chemical Engineering and Material Sciences , University of Southern California , Los Angeles , California 90089-1211 , United States., Jalali-Yazdi F; Mork Family Department of Chemical Engineering and Material Sciences , University of Southern California , Los Angeles , California 90089-1211 , United States., Eaton JB; Barrow Neurological Institute, St. Joseph's Hospital and Medical Center , University of Arizona , Phoenix , Arizona 85013-4409 , United States., Lai LH; Department of Chemistry , University of Southern California , Los Angeles , California 90089-1062 , United States., Advani G; Mork Family Department of Chemical Engineering and Material Sciences , University of Southern California , Los Angeles , California 90089-1211 , United States., Lukas RJ; Barrow Neurological Institute, St. Joseph's Hospital and Medical Center , University of Arizona , Phoenix , Arizona 85013-4409 , United States., Lester HA; Division of Biology and Biological Engineering , California Institute of Technology , Pasadena , California 91125-0001 , United States., Chen L; Department of Chemistry , University of Southern California , Los Angeles , California 90089-1062 , United States.; Molecular and Computational Biology, Department of Biology , University of Southern California , Los Angeles , California 90089-0371 , United States.; Norris Cancer Center , University of Southern California , Los Angeles , California 90033 , United States., Roberts RW; Department of Chemistry , University of Southern California , Los Angeles , California 90089-1062 , United States.; Molecular and Computational Biology, Department of Biology , University of Southern California , Los Angeles , California 90089-0371 , United States.; Mork Family Department of Chemical Engineering and Material Sciences , University of Southern California , Los Angeles , California 90089-1211 , United States.; Norris Cancer Center , University of Southern California , Los Angeles , California 90033 , United States.; Department of Biomedical Engineering , University of Southern California , Los Angeles , California 90089-1111 , United States.
Publikováno v:
ACS chemical biology [ACS Chem Biol] 2018 Sep 21; Vol. 13 (9), pp. 2568-2576. Date of Electronic Publication: 2018 Aug 13.
Autor:
Lasala JA; Department of Biology, Florida Atlantic University, Boca Raton, Florida, United States of America., Hughes CR; Department of Biology, Florida Atlantic University, Boca Raton, Florida, United States of America., Wyneken J; Department of Biology, Florida Atlantic University, Boca Raton, Florida, United States of America.
Publikováno v:
PloS one [PLoS One] 2018 Jan 25; Vol. 13 (1), pp. e0191615. Date of Electronic Publication: 2018 Jan 25 (Print Publication: 2018).
Autor:
Lilyquist J; Department of Internal Medicine, Division of Epidemiology, University of New Mexico, Albuquerque, NM Department of Health Sciences Research, Mayo Clinic, Rochester, MN Cancer Research and Treatment Center Center for HPV Prevention, Department of Pathology, University of New Mexico, Albuquerque, NM., White KAM, Lee RJ, Philips GK, Hughes CR, Torres SM
Publikováno v:
Medicine [Medicine (Baltimore)] 2017 Apr; Vol. 96 (15), pp. e6432.