Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Frankl FEK"'
Autor:
aaskelainen J, Erik Schoenmakers, Ilona Zvetkova, Sharone Barone, Ömer Tarım, Christoffer Löf, Liao Xh, Jukka Kero, Nadia Schoenmakers, Hakan Cangul, Eva Goncalves Serra, Eamonn R. Maher, Konrad Patyra, Panudda Srichomkwun, Kristien Boelaert, Halil Saglam, Frankl Fek, Adeline K Nicholas, Samuel Refetoff, ren E, Manoocher Soleimani, Hideyuki Iwayama, Carl A. Anderson, Williams Ed, Timothy Barrett, V. K. K. Chatterjee, Marja Ojaniemi
Publikováno v:
Yearbook of Paediatric Endocrinology.
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidis
Autor:
Rooney J; Department of Veterinary Medicine, University of Cambridge, Cambridge, CB3 0ES, UK., Williams TL; Department of Veterinary Medicine, University of Cambridge, Cambridge, CB3 0ES, UK., Northcote HM; Institute of Biological, Environmental and Rural Sciences, Aberystwyth University, Aberystwyth, SY23 2DA, UK., Frankl FEK; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK., Price DRG; Vaccines and Diagnostics Department, Moredun Research Institute, Penicuik, EH26 0PZ, UK., Nisbet AJ; Vaccines and Diagnostics Department, Moredun Research Institute, Penicuik, EH26 0PZ, UK., Morphew RM; Institute of Biological, Environmental and Rural Sciences, Aberystwyth University, Aberystwyth, SY23 2DA, UK., Cantacessi C; Department of Veterinary Medicine, University of Cambridge, Cambridge, CB3 0ES, UK. cc779@cam.ac.uk.
Publikováno v:
Parasites & vectors [Parasit Vectors] 2022 Oct 02; Vol. 15 (1), pp. 354. Date of Electronic Publication: 2022 Oct 02.
Autor:
Cangul H; Department of Medical Genetics, Istanbul Medipol University, International School of Medicine, Istanbul, Turkey., Liao XH; Department of Medicine, The University of Chicago, Chicago, Illinois, USA., Schoenmakers E; Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom (UK)., Kero J; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland.; Department of Paediatrics, Turku University Hospital, Turku, Finland., Barone S; University of Cincinnati and Veterans Administration Hospital, Cincinnati, Ohio, USA., Srichomkwun P; Department of Medicine, The University of Chicago, Chicago, Illinois, USA., Iwayama H; Department of Medicine, The University of Chicago, Chicago, Illinois, USA., Serra EG; Department of Human Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Saglam H; Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey., Eren E; Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey., Tarim O; Uludag University School of Medicine, Department of Paediatric Endocrinology, Bursa, Turkey., Nicholas AK; Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom (UK)., Zvetkova I; Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom (UK)., Anderson CA; Department of Human Genetics, The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Frankl FEK; Department of Medical Genetics and Division of Renal Medicine, University of Cambridge, Cambridge, UK., Boelaert K; Institute of Metabolism and Systems Research, University of Birmingham and Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Edgbaston, Birmingham, UK., Ojaniemi M; PEDEGO Research Center and MRC Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland., Jääskeläinen J; Department of Pediatrics, University of Eastern Finland and Kuopio University, Hospital, Kuopio, Finland., Patyra K; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Löf C; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, Turku, Finland., Williams ED; Thyroid Carcinogenesis Group, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK., Soleimani M; University of Cincinnati and Veterans Administration Hospital, Cincinnati, Ohio, USA., Barrett T; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham and Department of Endocrinology, Birmingham Children's Hospital, Birmingham, UK., Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Chatterjee VK; Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom (UK)., Refetoff S; Department of Medicine, The University of Chicago, Chicago, Illinois, USA.; Department of Pediatrics and the Committee on Genetics, The University of Chicago, Chicago, Illinois, USA., Schoenmakers N; Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom (UK).
Publikováno v:
JCI insight [JCI Insight] 2018 Oct 18; Vol. 3 (20). Date of Electronic Publication: 2018 Oct 18.
Autor:
Sorrell SL; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Golder ZJ; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Johnstone DB; Section of Nephrology, Hypertension and Kidney Transplantation, School of Medicine, Temple University, Philadelphia, PA, USA., Frankl FEK; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
Publikováno v:
Kidney international [Kidney Int] 2016 Jan; Vol. 89 (1), pp. 105-112. Date of Electronic Publication: 2016 Jan 04.