المؤلفون: Norrish G; 1 Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK.; 2 University College London Institute of Cardiovascular Science, London, UK., Cantarutti N; 1 Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK.; 3 Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pissaridou E; 4 Population, Policy and Practice Programme, UCL-Great Ormond Street Institute of Child Health, University College London, London, UK., Ridout DA; 4 Population, Policy and Practice Programme, UCL-Great Ormond Street Institute of Child Health, University College London, London, UK., Limongelli G; 5 Monaldi Hospital, Naples, Italy., Elliott PM; 2 University College London Institute of Cardiovascular Science, London, UK.; 6 Barts Heart Centre, St Bartholomew's Hospital, London, UK., Kaski JP; 1 Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK.; 2 University College London Institute of Cardiovascular Science, London, UK.

المصدر: European journal of preventive cardiology [Eur J Prev Cardiol] 2017 Jul; Vol. 24 (11), pp. 1220-1230. Date of Electronic Publication: 2017 May 09.

نوع المنشور: Journal Article; Meta-Analysis; Review; Systematic Review

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101564430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-4881 (Electronic) Linking ISSN: 20474873 NLM ISO Abbreviation: Eur J Prev Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic*/complications , Cardiomyopathy, Hypertrophic*/mortality , Cardiomyopathy, Hypertrophic*/therapy , Death, Sudden, Cardiac*/epidemiology , Death, Sudden, Cardiac*/etiology , Death, Sudden, Cardiac*/prevention & control , Defibrillators, Implantable* , Risk Assessment*, Child ; Global Health ; Humans ; Risk Factors ; Survival Rate/trends

المؤلفون: Spanaki A; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., O'Curry S; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Winter-Beatty J; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Mead-Regan S; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Hawkins K; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., English J; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Head C; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Ridout D; 4Pediatric Epidemiology Unit,Institute of Child Health,London,United Kingdom., Tome-Esteban MT; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Elliott P; 5Institute of Cardiovascular Science,University College London,London,United Kingdom., Kaski JP; 1Department of Cardiology,Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom.

المصدر: Cardiology in the young [Cardiol Young] 2016 Jun; Vol. 26 (5), pp. 961-7. Date of Electronic Publication: 2015 Sep 08.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

مواضيع طبية MeSH: Health Status* , Quality of Life*, Cardiomyopathy, Hypertrophic/*psychology , Parents/*psychology, Adolescent ; Child ; Female ; Humans ; London ; Male ; Psychiatric Status Rating Scales ; Regression Analysis ; Surveys and Questionnaires

المؤلفون: Szepesváry E; Clinical Fellow in the Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, London., Kaski JP; Consultant Paediatric Cardiologist in the Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, London WC1N 3JH.

المصدر: British journal of hospital medicine (London, England : 2005) [Br J Hosp Med (Lond)] 2016 May; Vol. 77 (5), pp. 294-302.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MA Healthcare Country of Publication: England NLM ID: 101257109 Publication Model: Print Cited Medium: Print ISSN: 1750-8460 (Print) Linking ISSN: 17508460 NLM ISO Abbreviation: Br J Hosp Med (Lond) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing*, Arrhythmias, Cardiac/*genetics , Channelopathies/*genetics, Arrhythmias, Cardiac/diagnosis ; Channelopathies/diagnosis ; Electrocardiography ; Humans

المؤلفون: Suetterlin KJ; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England., Bugiardini E; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England., Kaski JP; University College London Institute of Cardiovascular Science, London, England., Morrow JM; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England., Matthews E; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England., Hanna MG; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England., Fialho D; MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London Institute of Neurology, London, England.

المصدر: JAMA neurology [JAMA Neurol] 2015 Dec; Vol. 72 (12), pp. 1531-3.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Channelopathies/*drug therapy , Channelopathies/*pathology , Mexiletine/*therapeutic use , Muscle, Skeletal/*pathology , Voltage-Gated Sodium Channel Blockers/*therapeutic use, Channelopathies/genetics ; Chloride Channels/genetics ; Dose-Response Relationship, Drug ; Electrocardiography ; Female ; Humans ; Longitudinal Studies ; Male ; Mutation/genetics ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Randomized Controlled Trials as Topic

المؤلفون: Konta L; 1Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom., Franklin RC; 2Department of Paediatric Cardiology,Royal Brompton Hospital,London,United Kingdom., Kaski JP; 1Inherited Cardiovascular Diseases Unit,Great Ormond Street Hospital,London,United Kingdom.

المصدر: Cardiology in the young [Cardiol Young] 2015 Aug; Vol. 25 Suppl 2, pp. 31-42.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies/*classification , Cardiomyopathies/*diagnosis , Cardiomyopathies/*genetics , Pediatrics/*trends, Europe ; Genetic Testing ; Humans ; Mutation ; Phenotype ; Practice Guidelines as Topic ; Societies, Medical ; United States

المؤلفون: Ciliberti P; Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., McLeod I, Cairello F, Kaski JP, Fenton M, Giardini A, Marek J

المصدر: Pediatric cardiology [Pediatr Cardiol] 2015 Mar; Vol. 36 (3), pp. 633-9. Date of Electronic Publication: 2014 Nov 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Echocardiography, Stress/*methods , Exercise Test/*methods , Heart/*anatomy & histology , Heart/*physiology , Heart/*physiopathology, Adolescent ; Cardiomyopathy, Hypertrophic/diagnostic imaging ; Cardiomyopathy, Hypertrophic/physiopathology ; Child ; Coronary Vessels/diagnostic imaging ; Female ; Humans ; Male ; Risk Assessment ; Supine Position ; Ventricular Function, Left/physiology

المؤلفون: Giudici V; Inherited Cardiovascular Diseases Unit, Department of Cardiology, Great Ormond Street Hospital, London, United Kingdom; Department of Paediatrics, Ospedale Luigi Sacco, University of Milan, Italy., Spanaki A, Hendry J, Mead-Regan S, Field E, Zuccotti GV, Abrams D, Lowe M, Kaski JP

المصدر: Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2014 Dec; Vol. 37 (12), pp. 1681-5. Date of Electronic Publication: 2014 Aug 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Futura Pub. Co. Country of Publication: United States NLM ID: 7803944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8159 (Electronic) Linking ISSN: 01478389 NLM ISO Abbreviation: Pacing Clin Electrophysiol Subsets: MEDLINE

مواضيع طبية MeSH: Death, Sudden, Cardiac/*etiology , Heart Diseases/*complications , Heart Diseases/*genetics, Adolescent ; Adult ; Arrhythmias, Cardiac/complications ; Child ; Child, Preschool ; Female ; Heart Diseases/diagnosis ; Humans ; Infant ; Male ; Middle Aged ; Retrospective Studies ; Syndrome

المؤلفون: Prasad R; Centre for Endocrinology (R.P., L.F.C., C.R.H., J.C.K., M.O.S., A.J.L.C., H.L.S., L.A.M.), Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom; Inherited Cardiovascular Diseases Unit (J.P.K.), Department of Cardiology, Great Ormond St Hospital for Children, and Department of Paediatric Endocrinology (C.J.P.), Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom; and Department of Paediatric Endocrinology (N.N.), Luton and Dunstable University Hospital, Luton LU4 0DZ, United Kingdom., Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2014 Aug; Vol. 99 (8), pp. E1556-63. Date of Electronic Publication: 2014 Mar 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Adrenal Insufficiency/*genetics , Steroid Metabolism, Inborn Errors/*genetics , Thioredoxin Reductase 2/*genetics, Adolescent ; Adult ; Animals ; Cell Line, Tumor ; Child ; Child, Preschool ; Consanguinity ; Female ; Homozygote ; Humans ; Male ; Mice ; Pedigree

SCR Disease Name: Familial Glucocorticoid Deficiency 1

المؤلفون: Miller RF; Research Department of Infection and Population Health, Institute of Epidemiology and Healthcare, University College London, London, United Kingdom †Clinical Research Department, London School of Hygiene and Tropical Medicine, London, United Kingdom ‡Biomedical Research and Training Institute, Harare, Zimbabwe §Department of Cardiology, Great Ormond Street Hospital for Children, London, United Kingdom ‖Institute of Cardiovascular Science, University College London, London, United Kingdom ¶Department of Medicine, University of Zimbabwe, Harare, Zimbabwe., Meghji J, Kaski JP, Matenga J, Ferrand RA

المصدر: Journal of acquired immune deficiency syndromes (1999) [J Acquir Immune Defic Syndr] 2014 Aug 01; Vol. 66 (4), pp. e90-2.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins, Inc Country of Publication: United States NLM ID: 100892005 Publication Model: Print Cited Medium: Internet ISSN: 1944-7884 (Electronic) Linking ISSN: 15254135 NLM ISO Abbreviation: J Acquir Immune Defic Syndr Subsets: MEDLINE

مواضيع طبية MeSH: Infectious Disease Transmission, Vertical*, HIV Infections/*complications , HIV Infections/*diagnosis , Heart Diseases/*etiology , Heart Ventricles/*pathology, Adolescent ; Blood Pressure ; Child ; Female ; Heart Diseases/pathology ; Humans ; Male ; Myocardium/pathology ; Young Adult

المؤلفون: Kaski JP; Inherited Cardiovascular Diseases Unit, Department of Cardiology, Great Ormond Street Hospital, London WC1N 3JH, UK; Institute of Cardiovascular Science, University College London, London, UK. Electronic address: j.kaski@ucl.ac.uk., Limongelli G; Monaldi Hospital, Second University of Naples, Naples, Italy.

المصدر: Lancet (London, England) [Lancet] 2014 Mar 01; Vol. 383 (9919), pp. 781-2.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic/*diagnosis, Female ; Humans ; Male