Zobrazeno 1 - 10
of 1 312
pro vyhledávání: '"Breckpot, J"'
Autor:
Verbesselt J; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium., Walsh LK; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Mitchel MW; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Taylor CM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Finucane BM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA., Breckpot J; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Zink I; Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.; MUCLA, Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium., Swillen A; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Publikováno v:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2024 Aug; Vol. 68 (8), pp. 969-984. Date of Electronic Publication: 2024 Apr 24.
Autor:
Rodriguez Mier N; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium. noelia.rodriguezmier@uzleuven.be., Jaspers M; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology, KU Leuven, Leuven, Belgium., Van Hoof E; Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium., Jorissen M; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology, KU Leuven, Leuven, Belgium.; Department of Otorhinolaryngology, University Hospital of Leuven, Leuven, Belgium., Lorent N; Department of Pulmonology, University Hospital of Leuven, Leuven, Belgium., Proesmans M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium., Vermeulen F; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium., Breckpot J; Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium., Boon M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium.
Publikováno v:
Lung [Lung] 2024 Jun; Vol. 202 (3), pp. 291-298. Date of Electronic Publication: 2024 Apr 11.
Publikováno v:
American Journal of Medical Genetics. Part A; September 2007, Vol. 143 Issue: 18 p2160-2164, 5p
Autor:
Wilde, AAM, Semsarian, C, Márquez, MF, Sepehri Shamloo, A, Ackerman, MJ, Ashley, EA, Sternick, EB, Barajas-Martinez, H, Behr, ER, Bezzina, CR, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, MH, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, JS, Winlaw, DS, Kaufman, ES, Document Reviewers, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, AD, MacIntyre, C, Mackall, JA, Mont, L, Napolitano, C, Ochoa, JP, Peichl, P, Pereira, AC, Schwartz, PJ, Skinner, J, Stellbrink, C, Tfelt-Hansen, J, Deneke, T
Publikováno v:
EP Europace, 24(8), 1307-1367. Oxford University Press
Wilde, A A M, Semsarian, C, Márquez, M F, Shamloo, A S, Ackerman, M J, Ashley, E A, Sternick, E B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, MacIntyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa, J P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', 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, vol. 24, no. 8, pp. 1307-1367 . https://doi.org/10.1093/europace/euac030
Document Reviewers 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases ', Heart Rhythm, vol. 19, no. 7, pp. e1-e60 . https://doi.org/10.1016/j.hrthm.2022.03.1225
Heart rhythm, 19(7), e1-e60. Elsevier
Wilde, A A M, Semsarian, C, Márquez, M F, Sepehri Shamloo, A, Ackerman, M J, Ashley, E A, Sternick Eduardo, B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, Mac Intyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', Journal of Arrhythmia, vol. 38, no. 4, pp. 491-553 . https://doi.org/10.1002/joa3.12717
Journal of arrhythmia, 38(4), 491-553. Elsevier BV
e60
e1
Wilde, A A M, Semsarian, C, Márquez, M F, Shamloo, A S, Ackerman, M J, Ashley, E A, Sternick, E B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, MacIntyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa, J P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', 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, vol. 24, no. 8, pp. 1307-1367 . https://doi.org/10.1093/europace/euac030
Document Reviewers 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases ', Heart Rhythm, vol. 19, no. 7, pp. e1-e60 . https://doi.org/10.1016/j.hrthm.2022.03.1225
Heart rhythm, 19(7), e1-e60. Elsevier
Wilde, A A M, Semsarian, C, Márquez, M F, Sepehri Shamloo, A, Ackerman, M J, Ashley, E A, Sternick Eduardo, B, Barajas-Martinez, H, Behr, E R, Bezzina, C R, Breckpot, J, Charron, P, Chockalingam, P, Crotti, L, Gollob, M H, Lubitz, S, Makita, N, Ohno, S, Ortiz-Genga, M, Sacilotto, L, Schulze-Bahr, E, Shimizu, W, Sotoodehnia, N, Tadros, R, Ware, J S, Winlaw, D S, Kaufman, E S, Aiba, T, Bollmann, A, Choi, J-I, Dalal, A, Darrieux, F, Giudicessi, J, Guerchicoff, M, Hong, K, Krahn, A D, Mac Intyre, C, Mackall, J A, Mont, L, Napolitano, C, Ochoa Juan, P, Peichl, P, Pereira, A C, Schwartz, P J, Skinner, J, Stellbrink, C, Tfelt-Hansen, J & Deneke, T 2022, ' European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases ', Journal of Arrhythmia, vol. 38, no. 4, pp. 491-553 . https://doi.org/10.1002/joa3.12717
Journal of arrhythmia, 38(4), 491-553. Elsevier BV
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Genetic testing has advanced significantly since the publication of the 2011 HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies.1 In addition to single-gene testing, there is now the abili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7ef6d36346d31038818561ecda8c15
Autor:
Hannes L; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Atzori M; Department of Human Genetics, KU Leuven, Leuven, Belgium., Goldenberg A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Rouen, Rouen, France., Argente J; Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBEROBN de fisiopatología de la obesidad y nutrición, Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, Madrid, Spain., Attie-Bitach T; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Amiel J; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Attanasio C; Department of Human Genetics, KU Leuven, Leuven, Belgium., Braslavsky DG; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE) CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez. Buenos Aires, Argentina., Bruel AL; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Castanet M; Normandie Univ, UNIROUEN, Inserm U1239, CHU Rouen, Department of Pediatrics, Rouen, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR, UMR 6290, ERL U1305, Rennes, France., Jacobs A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Lyonnet S; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Institut Imagine, Paris, France., Martinez-Mayer J; Instituto de Biociencias, Biotecnología y Biología Traslacional (IB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina., Pérez Millán MI; Instituto de Biociencias, Biotecnología y Biología Traslacional (IB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina., Pezzella N; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy; Scuola Superiore Meridionale, School for Advanced Studies, Genomics and Experimental Medicine program, Naples, Italy., Pelgrims E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Aerden M; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bauters M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Rochtus A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Scaglia P; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE) CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez. Buenos Aires, Argentina., Swillen A; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Sifrim A; Department of Human Genetics, KU Leuven, Leuven, Belgium., Tammaro R; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy., Mau-Them FT; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Odent S; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Univ Rennes, CNRS, INSERM, IGDR, UMR 6290, ERL U1305, Rennes, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Ouest, ERN ITHACA, FHU GenOmedS, Centre Hospitalier Universitaire Rennes, Rennes, France., Thauvin-Robinet C; INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France; UF Innovation diagnostique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de Référence Anomalies du Développement de l'Est, Centre de Génétique, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France., Franco B; Telethon Institute of Genetics and Medicine-TIGEM, Naples, Italy; Scuola Superiore Meridionale, School for Advanced Studies, Genomics and Experimental Medicine program, Naples, Italy; Department of Translational Medicine, Medical Genetics Federico II University of Naples, Naples, Italy., Breckpot J; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium. Electronic address: jeroen.breckpot@uzleuven.be.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101059. Date of Electronic Publication: 2023 Dec 27.
Autor:
Vervoort L, Dierckxsens N, Santos MS, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn DM, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, Vermeesch JR
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 18. Date of Electronic Publication: 2024 Mar 18.
Autor:
Freud LR; Hospital for Sick Children, University of Toronto, Toronto, Canada. Electronic address: lindsay.freud@sickkids.ca., Galloway S; NewYork-Presbyterian Hospital, Columbia University Irving Medical Center, New York City, NY., Crowley TB; Children's Hospital of Philadelphia, Philadelphia, PA., Moldenhauer J; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Swillen A; University Hospitals Leuven, Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium., Breckpot J; University Hospitals Leuven, Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium., Borrell A; Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain., Vora NL; University of North Carolina at Chapel Hill, Chapel Hill, NC., Cuneo B; Children's Hospital Colorado, University of Colorado, Denver, CO., Hoffman H; Children's Hospital Colorado, University of Colorado, Denver, CO., Gilbert L; Children's Hospital Colorado, University of Colorado, Denver, CO., Nowakowska B; Institute of Mother and Child, Warsaw, Poland., Geremek M; Institute of Mother and Child, Warsaw, Poland., Kutkowska-Kaźmierczak A; Institute of Mother and Child, Warsaw, Poland., Vermeesch JR; University Hospitals Leuven, Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium., Devriendt K; University Hospitals Leuven, Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium., Busa T; Hôpital de la Timone, Marseille University, Marseille, France., Sigaudy S; Hôpital de la Timone, Marseille University, Marseille, France., Vigneswaran T; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust and Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, United Kingdom., Simpson JM; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust and Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, United Kingdom., Dungan J; Prentice Women's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL., Gotteiner N; Prentice Women's Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL., Gloning KP; Pränatal-Medizin München, Munich, Germany., Digilio MC; Ospedale Pediatrico Bambino Gesù, Rome, Italy., Unolt M; Children's Hospital of Philadelphia, Philadelphia, PA; Ospedale Pediatrico Bambino Gesù, Rome, Italy., Putotto C; Sapienza University of Rome, Rome, Italy., Marino B; Sapienza University of Rome, Rome, Italy., Repetto G; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Fadic M; Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Garcia-Minaur S; Hospital Universitario La Paz, Madrid, Spain., Achón Buil A; Hospital Universitario La Paz, Madrid, Spain., Thomas MA; Cumming School of Medicine, University of Calgary, Calgary, Canada., Fruitman D; Cumming School of Medicine, University of Calgary, Calgary, Canada., Beecroft T; Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Hui PW; Queen Mary Hospital, Tsan Yuk Hospital, University of Hong Kong, Hong Kong, China., Oskarsdottir S; Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden., Bradshaw R; SSM Health Cardinal Glennon St. Louis Fetal Care Institute, Saint Louis University, St. Louis, MO., Criebaum A; SSM Health Cardinal Glennon St. Louis Fetal Care Institute, Saint Louis University, St. Louis, MO., Norton ME; University of California, San Francisco, San Francisco, CA., Lee T; University of California, San Francisco, San Francisco, CA., Geiger M; Kravis Children's Hospital, Mount Sinai Medical Center, New York City, NY., Dunnington L; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX., Isaac J; University of Michigan, Ann Arbor, MI., Wilkins-Haug L; Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Hunter L; Royal Hospital for Children, University of Glasgow, Glasgow, United Kingdom., Izzi C; Children's Hospital of Philadelphia, Philadelphia, PA; Azienda Socio Sanitaria Territoriale (ASST) degli Spedali Civili di Brescia, Brescia, Italy., Toscano M; University of Rochester Medical Center, Rochester, NY., Ghi T; Department of Medicine and Surgery, University of Parma, Parma, Italy., McGlynn J; Yale School of Medicine, New Haven, CT., Romana Grati F; TOMA Advanced Biomedical Assays S.p.A., ImpactLab, Busto Arsizio, Italy., Emanuel BS; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Gaiser K; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Gaynor JW; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Goldmuntz E; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., McGinn DE; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Schindewolf E; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Tran O; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Yan Q; NewYork-Presbyterian Hospital, Columbia University Irving Medical Center, New York City, NY., Bassett AS; Centre for Addiction and Mental Health and Toronto General Hospital, University of Toronto, Toronto, Canada., Wapner R; NewYork-Presbyterian Hospital, Columbia University Irving Medical Center, New York City, NY., McDonald-McGinn DM; Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Publikováno v:
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2024 Mar; Vol. 230 (3), pp. 368.e1-368.e12. Date of Electronic Publication: 2023 Sep 16.
Autor:
Utine, Gülen Eda, Breckpot, Jeroen, Thienpont, Bernard, Alanay, Yasemin, Aksoy, Cemalettin, Bodurolu, Koray, Devriendt, Koenraad
Publikováno v:
American Journal of Medical Genetics. Part A; April 2010, Vol. 152 Issue: 4 p947-949, 3p
Autor:
Škorić-Milosavljević, D, Tadros, R, Bosada, FM, Tessadori, F, van Weerd, JH, Woudstra, OI, Tjong, FVY, Lahrouchi, N, Bajolle, F, Cordell, HJ, Agopian, AJ, Blue, GM, Barge-Schaapveld, DQCM, Gewillig, M, Preuss, C, Lodder, EM, Barnett, P, Ilgun, A, Beekman, L, van Duijvenboden, K, Bokenkamp, R, Müller-Nurasyid, M, Vliegen, HW, Konings, TC, van Melle, JP, van Dijk, APJ, van Kimmenade, RRJ, Roos-Hesselink, JW, Sieswerda, GT, Meijboom, F, Abdul-Khaliq, H, Berger, F, Dittrich, S, Hitz, M-P, Moosmann, J, Riede, F-T, Schubert, S, Galan, P, Lathrop, M, Munter, HM, Al-Chalabi, A, Shaw, CE, Shaw, PJ, Morrison, KE, Veldink, JH, van den Berg, LH, Evans, S, Nobrega, MA, Aneas, I, Radivojkov-Blagojević, M, Meitinger, T, Oechslin, E, Mondal, T, Bergin, L, Smythe, JF, Altamirano-Diaz, L, Lougheed, J, Bouma, BJ, Chaix, M-A, Kline, J, Bassett, AS, Andelfinger, G, van der Palen, RLF, Bouvagnet, P, Clur, S-AB, Breckpot, J, Kerstjens-Frederikse, WS, Winlaw, DS, Bauer, UMM, Mital, S, Goldmuntz, E, Keavney, B, Bonnet, D, Mulder, BJ, Tanck, MWT, Bakkers, J, Christoffels, VM, Boogerd, CJ, Postma, AV, Bezzina, CR
Publikováno v:
Circ Res
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Circulation Research. Lippincott Williams & Wilkins
Circulation Research, 130, 166-180
Circulation Research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Circulation Research, 130, 2, pp. 166-180
Circulation Research, 130(2), 166-180. Lippincott Williams & Wilkins
Circulation research, 130(2), 166-180. LIPPINCOTT WILLIAMS & WILKINS
Paediatrics Publications
Circulation research, 130(2), 166-180. Lippincott Williams and Wilkins
KORA-Study Group 2022, ' Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries ', Circulation Research, vol. 130, no. 2, pp. 166-180 . https://doi.org/10.1161/CIRCRESAHA.120.317107
Circ. Res. 130, 166-180 (2021)
Circulation Research, 130(2), 166-180. Lippincott Williams and Wilkins
Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majori
Autor:
Dillemans L; Laboratory of Molecular Immunology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium., Bekhuis Y; Laboratory of Cardiology, Department of Cardiovascular Sciences, KU Leuven, Belgium; Department of Cardiovascular Diseases, University Hospitals Leuven, Belgium., Betrains A; Laboratory for Clinical Infectious and Inflammatory Disorders, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium; European Reference Network for Immunodeficiency, Autoinflammatory, Autoimmune and Pediatric Rheumatic disease (ERN-RITA), University Hospitals Leuven, Belgium., Yu K; Laboratory of Molecular Immunology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium., van Hemelen M; Medical Intensive Care Unit, Department of General Internal Medicine, University Hospitals Leuven, Belgium., Pörtner N; Laboratory of Molecular Immunology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium., De Somer L; European Reference Network for Immunodeficiency, Autoinflammatory, Autoimmune and Pediatric Rheumatic disease (ERN-RITA), University Hospitals Leuven, Belgium; Laboratory of Immunobiology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium; Department of Pediatric Rheumatology, University Hospitals Leuven, Belgium., Matthys P; Laboratory of Immunobiology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium., Breckpot J; Department of Human Genetics, KU Leuven, Belgium., Tousseyn T; Translational Cell and Tissue Research, Department of Imaging and Pathology, KU Leuven, Belgium., Peetermans M; Laboratory for Clinical Infectious and Inflammatory Disorders, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium; Medical Intensive Care Unit, Department of General Internal Medicine, University Hospitals Leuven, Belgium., Proost P; Laboratory of Molecular Immunology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium. Electronic address: paul.proost@kuleuven.be., Wouters C; European Reference Network for Immunodeficiency, Autoinflammatory, Autoimmune and Pediatric Rheumatic disease (ERN-RITA), University Hospitals Leuven, Belgium; Laboratory of Immunobiology, Department of Microbiology, Immunology and Transplantation, Rega Institute, KU Leuven, Belgium., Vanderschueren S; Laboratory for Clinical Infectious and Inflammatory Disorders, Department of Microbiology, Immunology and Transplantation, KU Leuven, Belgium; European Reference Network for Immunodeficiency, Autoinflammatory, Autoimmune and Pediatric Rheumatic disease (ERN-RITA), University Hospitals Leuven, Belgium.
Publikováno v:
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2023 Dec; Vol. 257, pp. 109815. Date of Electronic Publication: 2023 Oct 26.