Zobrazeno 1 - 10 of 79 pro vyhledávání: '"Keigwin, S."'
2
Akademický článek
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Autor: Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK. Jessica.Bowen4@nhs.net., Hernandez M; Health Economics and Decision Science, ScHARR, University of Sheffield, Regent Court, 30 Regent Street, Sheffield, S1 4DA, UK., Johnson DS; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Green C; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Kammin T; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Baker D; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Keigwin S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Makino S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, S10 2TH, UK., Taylor N; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Watson O; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Wheeldon NM; South Yorkshire Regional Inherited Cardiac Conditions Service, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Sobey GJ; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital NHS Foundation Trust, OPD2 Department, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK. Glenda.Sobey@nhs.net.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jul; Vol. 31 (7), pp. 749-760. Date of Electronic Publication: 2023 Mar 29.
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3
Report
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
Autor: Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Keigwin S; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Anttonen AK; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland., Baker D; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Bean K; Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK., Jakkula E; Department of Clinical Genetics, HUS Diagnostic Center University of Helsinki and Helsinki University Hospital Helsinki Finland.; Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland.
Publikováno v: Clinical case reports [Clin Case Rep] 2022 Oct 11; Vol. 10 (10), pp. e6455. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022).
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4
Akademický článek
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention.
Autor: Buso, Giacomo1,2 (AUTHOR), Corvini, Federica1 (AUTHOR), Fusco, Elena Maria1 (AUTHOR), Messina, Massimiliano1 (AUTHOR), Cherubini, Fabio1 (AUTHOR), Laera, Nicola1 (AUTHOR), Paini, Anna1 (AUTHOR), Salvetti, Massimo1 (AUTHOR), De Ciuceis, Carolina1 (AUTHOR), Ritelli, Marco3 (AUTHOR) nicola.chiarelli@unibs.it, Venturini, Marina4 (AUTHOR), Chiarelli, Nicola3 (AUTHOR), Colombi, Marina3 (AUTHOR), Muiesan, Maria Lorenza1 (AUTHOR) marialorenza.muiesan@unibs.it
Publikováno v: Journal of Clinical Medicine. Jul2024, Vol. 13 Issue 14, p4255. 13p.
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5
Akademický článek
Heinrich event ice discharge and the fate of the Atlantic Meridional Overturning Circulation.
Autor: Yuxin Zhou1,2 yuxin_zhou@ucsb.edu, McManus, Jerry F.3,4
Publikováno v: Science. 5/31/2024, Vol. 384 Issue 6699, p983-986. 4p. 1 Color Photograph, 1 Diagram.
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7
Akademický článek
From Natural History to Contemporary Management of Aortic Diseases: A State-of-the-Art Review of Thoracic Aortic Aneurysm.
Autor: Paulenka, Yuliya1, Lee, Christopher2 christopherlee722@gmail.com, Tawayha, Mays3, Dow, Sam4, Shah, Kajal4, Henkin, Stanislav5 henkin.stanislav@mayo.edu, Mosleh, Wassim4 wassim.mosleh@gmail.com
Publikováno v: Cardiogenetics. Dec2023, Vol. 13 Issue 4, p154-172. 19p.
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8
Akademický článek
Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.
Autor: Salzillo, Cecilia, Marzullo, Andrea
Publikováno v: Diseases; Nov2024, Vol. 12 Issue 11, p264, 15p
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