المؤلفون: Lars Harbaum, Christopher J. Rhodes, John Wharton, Allan Lawrie, Jason H. Karnes, Ankit A. Desai, William C. Nichols, Marc Humbert, David Montani, Barbara Girerd, Olivier Sitbon, Mario Boehm, Tatyana Novoyatleva, Ralph T. Schermuly, H. Ardeschir Ghofrani, Mark Toshner, David G. Kiely, Luke S. Howard, Emilia M. Swietlik, Stefan Gräf, Maik Pietzner, Nicholas W. Morrell, Martin R. Wilkins, L Southgate, RD Machado, J Martin, WH Ouwehand, MW Pauciulo, A Arora, K Lutz, F Ahmad, SL Archer, R Argula, ED Austin, D Badesch, S Bakshi, C Barnett, R Benza, N Bhatt, CD Burger, M Chakinala, J Elwing, T Fortin, RP Frantz, A Frost, JGN Garcia, J Harley, H He, NS Hill, R Hirsch, D Ivy, J Klinger, T Lahm, K Marsolo, LJ Martin, SD Nathan, RJ Oudiz, Z Rehman, I Robbins, DM Roden, EB Rosenzweig, G Saydain, R Schilz, RW Simms, M Simon, H Tang, AY Tchourbanov, T Thenappan, F Torres, AK Walsworth, RE Walter, RJ White, J Wilt, D Yung, R Kittles, J Aman, J Knight, KB Hanscombe, H Gall, A Ulrich, HJ Bogaard, C Church, JG Coghlan, R Condliffe, PA Corris, C Danesino, CG Elliott, A Franke, S Ghio, JSR Gibbs, AC Houweling, G Kovacs, M Laudes, RV MacKenzie Ross, S Moledina, M Newnham, A Olschewski, H Olschewski, AJ Peacock, J Pepke-Zaba, L Scelsi, W Seeger, CM Shaffer, O Sitbon, J Suntharalingam, C Treacy, A Vonk Noordegraaf, Q Waisfisz, SJ Wort, RC Trembath, M Germain, I Cebola, J Ferrer, P Amouyel, S Debette, M Eyries, F Soubrier, DA Trégouët

المساهمون: Harbaum, Lars [0000-0002-9422-6195], Lawrie, Allan [0000-0003-4192-9505], Montani, David [0000-0002-9358-6922], Sitbon, Olivier [0000-0002-1942-1951], Gräf, Stefan [0000-0002-1315-8873], Wilkins, Martin R [0000-0003-3926-1171], Apollo - University of Cambridge Repository, British Heart Foundation, The Academy of Medical Sciences

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pulmonary Arterial Hypertension, Proteome, case-control studies, Hypertension, Pulmonary, Respiratory System, Blood Proteins, Critical Care and Intensive Care Medicine, Mendelian randomization, Humans, Familial Primary Pulmonary Hypertension, Netrins, Pathology, Molecular, Mendelian randomisation, protein quantitative trait loci, Thrombospondins, genome, 11 Medical and Health Sciences

وصف الملف: application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f363dc083e705c01eb9c6d70a4b67afd
https://www.repository.cam.ac.uk/handle/1810/340465

المؤلفون: van Riel L; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. l.vanriel@amsterdamumc.nl.; Department of Human Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands. l.vanriel@amsterdamumc.nl., Kets CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Hest LP; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Menko FH; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, the Netherlands., Boerrigter BG; Department of Pulmonary Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Franken SM; Department of Dermatology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wolthuis RMF; Department of Human Genetics, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Dubbink HJ; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Zondervan PJ; Department of Urology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Moorselaar RJA; Department of Urology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., van de Beek I; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, the Netherlands.

المصدر: Familial cancer [Fam Cancer] 2024 Jun 20. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

المؤلفون: Demirdas S; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network ReCONNET, Ehlers Danlos Syndrome Working Group, Rotterdam, the Netherlands (S.D.)., van den Bersselaar LM; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Lechner R; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Bos J; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Alsters SIM; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baars MJH; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baas AF; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Baysal Ö; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Dulfer E; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., Giesbertz NAA; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Helderman-van den Enden ATJM; Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.T.J.M.H.-v.d.E.)., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (Y.H.-H.)., Kempers MJE; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Komdeur FL; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Loeys B; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Majoor-Krakauer D; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Ockeloen CW; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., van Tintelen PJ; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Voorendt M; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., de Waard V; Department of Medical Biochemistry, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, the Netherlands (V.d.W.)., Maugeri A; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.)., Brüggenwirth HT; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., van de Laar IMBH; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network for Rare Multisystemic Vascular Disease, Medium Sized Arteries Working Group, Rotterdam, the Netherlands (I.M.B.H.v.d.L.)., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Jun; Vol. 17 (3), pp. e003978. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/genetics , Ehlers-Danlos Syndrome*/epidemiology , Collagen Type III*/genetics, Humans ; Female ; Male ; Netherlands/epidemiology ; Adult ; Middle Aged ; Retrospective Studies ; Cohort Studies ; Phenotype ; Adolescent ; Genetic Association Studies ; Young Adult ; Aged ; Ehlers-Danlos Syndrome, Type IV

المؤلفون: Grynblat J; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France.; M3C-Necker, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Cardiologie Congénitale et Pédiatrique, Paris, France., Bogaard HJ; Amsterdam Cardiovascular Sciences Pulmonary Hypertension and Thrombosis, Department of Pulmonary Medicine, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., Eyries M; Sorbonne Université, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Meyrignac O; Service de Radiologie Diagnostique et Interventionnelle Adulte, Biomaps - Laboratoire d'Imagerie Multimodale - CEA-INSERM-CNRS, Hôpital de Bicêtre, DMU 14 Smart Imaging, AP-HP, Le Kremlin-Bicêtre, France., Savale L; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France., Jaïs X; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France., Ghigna MR; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; Department of Pathology, International Center for Thoracic Cancers (CICT), Gustave Roussy, Villejuif, France., Celant L; Amsterdam Cardiovascular Sciences Pulmonary Hypertension and Thrombosis, Department of Pulmonary Medicine, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., Meijboom L; Department of Radiology and Nuclear Medicine, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., Levy M; M3C-Necker, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Cardiologie Congénitale et Pédiatrique, Paris, France., Antigny F, Chaouat A; Département de Pneumologie, Université de Lorraine, CHU de Nancy, Vandœuvre-lès-Nancy, France., Cottin V; National Reference Centre for Rare Pulmonary Diseases and Centre for Pulmonary Hypertension, Louis Pradel Hospital, Hospices Civils de Lyon, ERN-LUNG, UMR 754, INRAE, Claude Bernard University Lyon 1, Lyon, France., Guignabert C; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France., Coulet F; Sorbonne Université, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Sitbon O; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France., Bonnet D; M3C-Necker, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Cardiologie Congénitale et Pédiatrique, Paris, France., Humbert M; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France., Montani D; INSERM UMR_S 999 'Pulmonary Hypertension: Pathophysiology and Novel Therapies', Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France david.montani@aphp.fr.; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.; School of Medicine, University of Paris-Saclay, Le Kremlin-Bicêtre, France.

مؤلفون مشاركون: and the French PH Network PULMOTENSION Investigators

المصدر: The European respiratory journal [Eur Respir J] 2024 Apr 04; Vol. 63 (4). Date of Electronic Publication: 2024 Apr 04 (Print Publication: 2024).

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: European Respiratory Society Country of Publication: England NLM ID: 8803460 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1399-3003 (Electronic) Linking ISSN: 09031936 NLM ISO Abbreviation: Eur Respir J Subsets: MEDLINE

مواضيع طبية MeSH: Hypertension, Pulmonary*/diagnosis , Pulmonary Arterial Hypertension*/genetics , Pulmonary Arterial Hypertension*/complications , Telangiectasia, Hereditary Hemorrhagic*/complications , Telangiectasia, Hereditary Hemorrhagic*/genetics, Humans ; Male ; Female ; Adult ; Bone Morphogenetic Proteins/genetics ; Bone Morphogenetic Proteins/metabolism ; Familial Primary Pulmonary Hypertension ; Phenotype ; Growth Differentiation Factor 2/genetics ; Multicenter Studies as Topic

المؤلفون: van der Heide MYC; Department of Cardiology, Heart Center, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands., Verstraelen TE; Department of Cardiology, Heart Center, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands., van Lint FHM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, Netherlands., Bosman LP; Division Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Heidelberglaan 100, 3584 CX Utrecht, Netherlands., de Brouwer R; Department of Cardiology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, Netherlands., Proost VM; Department of Cardiology, Heart Center, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands., van Drie E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, Netherlands., Taha K; Division Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Heidelberglaan 100, 3584 CX Utrecht, Netherlands., Zwinderman AH; Department of Clinical Epidemiology and Biostatistics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands., Dickhoff C; Department of Cardiology, Dijklander Ziekenhuis Hoorn, Maelsonstraat 3, 1624 NP Hoorn, Netherlands., Schoonderwoerd BA; Department of Cardiology, Medical Center Leeuwarden, Henri Dunantweg 2, 8934 AD Leeuwarden, Netherlands., Germans T; Department of Cardiology, Noordwest Ziekenhuisgroep, Wilhelminalaan 12, 1815 JD Alkmaar, Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands., Gimeno-Blanes JR; Department of Cardiology, Virgen de Arrixaca Hospital, Ctra, Murcia-Cartagena, s/n, El Palmar, 30120 Murcia, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART)., van der Zwaag PA; Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, Netherlands., de Boer RA; Department of Cardiology, Erasmus Medical Center, University of Erasmus Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, Netherlands., Cox MGPJ; Department of Cardiology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ Groningen, Netherlands., van Tintelen JP; Department of Genetics, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584 CX Utrecht, Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART)., Wilde AAM; Department of Cardiology, Heart Center, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART).

المصدر: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [Europace] 2024 Mar 30; Vol. 26 (4).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883649 Publication Model: Print Cited Medium: Internet ISSN: 1532-2092 (Electronic) Linking ISSN: 10995129 NLM ISO Abbreviation: Europace Subsets: MEDLINE

مواضيع طبية MeSH: Arrhythmias, Cardiac*/diagnosis , Arrhythmias, Cardiac*/genetics , Arrhythmias, Cardiac*/therapy , Defibrillators, Implantable*, Female ; Humans ; Male ; Calcium-Binding Proteins/genetics ; Death, Sudden, Cardiac/etiology ; Death, Sudden, Cardiac/prevention & control ; Reproducibility of Results ; Risk Factors ; Adult ; Middle Aged

المؤلفون: Meester JAN; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Hebert A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastiaansen M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Rabaut L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastianen J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Boeckx N; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Ashcroft K; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK., Atwal PS; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, FL, USA., Benichou A; Department of Internal and Vascular Medicine, CHU Nantes, Nantes Université, Nantes, France., Billon C; Service de Médecine Génomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, Paris, Assistance Publique Hôpitaux de Paris, Paris, France.; Université de Paris Cité, Inserm, PARCC, Paris, France., Blankensteijn JD; Department of Vascular Surgery, Amsterdam University Medical Center, Amsterdam, The Netherlands., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Bucks SA; GeneDx LLC, Gaithersburg, MD, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Curtis SL; Bristol Heart Institute, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK., Dasouki M; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Dent CL; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Eden J; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK., Goel H; Hunter Genetics, Waratah, NSW, Australia., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Jackson N; Clinical Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Koopman P; Department of Cardiology, Heart Centre Hasselt, Jessa Hospital, Hasselt, Belgium., Korpioja A; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kraatari-Tiri M; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kuulavainen L; Department of Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lee K; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Low KJ; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.; University of Bristol, Canynge Hall, Bristol, UK., Lu AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McManus ML; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Oakley SP; John Hunter Hospital, New Lambton Heights, NSW, Australia.; College of Health, Medicine and Wellbeing, School of Medicine, University of Newcastle, Newcastle, NSW, Australia., Oliver J; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK., Organ NM; John Hunter Hospital, New Lambton Heights, NSW, Australia., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium., Trainer AH; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Trivedi B; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Whittington R; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Zankl A; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia., Zentner D; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2024 Mar 26; Vol. 9 (1), pp. 22. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

المؤلفون: van den Bersselaar LM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bekkers JA; Department of Cardiothoracic Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands., Kempers M; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Baars M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Overwater E; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Rompen E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Dulfer E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Loeys BL; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verhagen HJM; Department of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Maugeri A; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Roos-Hesselink JW; Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101024. Date of Electronic Publication: 2023 Dec 11.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Houweling AC; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. a.houweling@amsterdamumc.nl., Lekanne Deprez RH; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Wilde AAM; Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.

المصدر: Advances in experimental medicine and biology [Adv Exp Med Biol] 2024; Vol. 1441, pp. 977-990.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies*/genetics, Humans ; Genetic Counseling ; Genetic Predisposition to Disease/genetics ; Genetic Testing/methods ; Mutation

المؤلفون: Alaamery M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh 11481, Saudi Arabia.; Saudi Genome Program, National Centre for Genomic Technologies, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Albesher N; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; Department of Biological Sciences, Faculty of Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia., Alhabshan F; Department of Cardiac Sciences, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11481, Saudi Arabia., Barnett P; Department of Medical Biology, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Salim Kabbani M; Department of Cardiac Sciences, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11481, Saudi Arabia., Chaikhouni F; Department of Cardiac Sciences, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh 11481, Saudi Arabia., Ilgun A; Department of Medical Biology, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Mook ORF; Department of Human Genetics, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Alsaif H; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Christoffels VM; Department of Medical Biology, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., van Tintelen P; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CS Utrecht, The Netherlands., Wilde AAM; Department of Cardiology, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands., Massadeh S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh 11481, Saudi Arabia.; Saudi Genome Program, National Centre for Genomic Technologies, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centres of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Postma AV; Department of Medical Biology, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands.

المصدر: Journal of cardiovascular development and disease [J Cardiovasc Dev Dis] 2023 Nov 09; Vol. 10 (11). Date of Electronic Publication: 2023 Nov 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101651414 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-3425 (Electronic) Linking ISSN: 23083425 NLM ISO Abbreviation: J Cardiovasc Dev Dis Subsets: PubMed not MEDLINE

المؤلفون: Welch CL; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Aldred MA; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Indiana University School of Medicine, IN., Balachandar S; Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Indiana University School of Medicine, IN., Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, the Netherlands., Eichstaedt CA; Center for Pulmonary Hypertension, Thoraxklinik-Heidelberg gGmbH, at Heidelberg University Hospital and Translational Lung Research Center, German Center for Lung Research, Heidelberg, Germany; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Gräf S; NIHR BioResource for Translational Research - Rare Diseases, Department of Haemotology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Houweling AC; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Machado RD; Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom., Pandya D; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom., Prapa M; Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; St. George's University Hospitals NHS Foundation Trust, London, United Kingdom., Shaukat M; Center for Pulmonary Hypertension, Thoraxklinik-Heidelberg gGmbH, at Heidelberg University Hospital and Translational Lung Research Center, German Center for Lung Research, Heidelberg, Germany; Laboratory for Molecular Genetic Diagnostics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Southgate L; Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom., Tenorio-Castano J; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IDiPAZ, Universidad Autonoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; ITHACA, European Reference Network, Brussels, Belgium., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY; Department of Medicine, Columbia University Irving Medical Center, New York, NY. Electronic address: Wendy.Chung@childrens.harvard.edu.

مؤلفون مشاركون: ClinGen PH VCEP, International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI)

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100925. Date of Electronic Publication: 2023 Jul 05.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Pulmonary Arterial Hypertension*/genetics , Hypertension, Pulmonary*/diagnosis , Hypertension, Pulmonary*/genetics, Adult ; Child ; Humans ; Mutation ; Genetic Predisposition to Disease ; Genetic Testing ; Bone Morphogenetic Protein Receptors, Type II/genetics ; Bone Morphogenetic Protein Receptors, Type II/metabolism ; Adenosine Triphosphatases/genetics ; Membrane Transport Proteins/genetics ; Activin Receptors, Type II/genetics ; Protein Serine-Threonine Kinases/genetics ; Bone Morphogenetic Proteins/genetics