المؤلفون: Zhang, Li, Pilarowski, Genay, Pich, Emilio Merlo, Nakatani, Atsushi, Dunlop, John, Baba, Rina, Matsuda, Satoru, Daini, Masaki, Hattori, Yasushi, Matsumoto, Shigemitsu, Ito, Mitsuhiro, Kimura, Haruhide, Bjornsson, Hans Tomas

المساهمون: 1McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. 2Takeda Pharmaceutical Company Limited, Fujisawa, Kanagawa, Japan. 3Takeda Pharmaceutical Company Limited, London, UK. 4Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 5Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik 101, Iceland. 6Landspitali University Hospital, Reykjavik 101, Iceland.

المصدر: Molecular therapy. Methods & clinical development ; 20 ; 779 ; 791 ; United States

مصطلحات موضوعية: ERK, H3K4me1, H3K4me3, LSD1, adult neurogenesis, chromatin, epigenetics, histone modification, splenomegaly, therapeutics, Kabuki syndrome, Erfðasjúkdómar, Genetic Diseases, Inborn

العلاقة: https://www.sciencedirect.com/science/article/pii/S2329050121000267?via%3DihubTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940709Test/; Zhang L, Pilarowski G, Pich EM, Nakatani A, Dunlop J, Baba R, Matsuda S, Daini M, Hattori Y, Matsumoto S, Ito M, Kimura H, Bjornsson HT. Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome. Mol Ther Methods Clin Dev. 2021 Feb 18;20:779-791. doi:10.1016/j.omtm.2021.02.011.; http://hdl.handle.net/2336/621773Test; Molecular therapy. Methods & clinical development

الإتاحة: https://doi.org/10.1016/j.omtm.2021.02.011Test
http://hdl.handle.net/2336/621773Test

المؤلفون: Adalsteinsdottir, Berglind, Burke, Michael, Maron, Barry J, Danielsen, Ragnar, Lopez, Begoña, Díez Martínez, Domingo Francisco Javier, Jarolim, Petr, Seidman, Jonathan, Seidman, Christine E., Ho, Carolyn Y, Gunnarsson, Gunnar Þ

المساهمون: Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Cardiomyopathy hypertrophic, Echocardiography, Genetics, Erfðafræði, Erfðasjúkdómar, Hjartasjúkdómar

وصف الملف: e001220

العلاقة: Open Heart;7(1); Adalsteinsdottir, B., Burke, M., Maron, B.J., Danielsen, R., Lopez, B., Diez, J., Jarolim, P., Seidman, J., Seidman, C.E., Ho, C.Y., Gunnarsson, G.T., 2020. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open Heart 7, e001220. doi:10.1136/openhrt-2019-001220; https://hdl.handle.net/20.500.11815/2383Test; Open Heart

الإتاحة: https://doi.org/20.500.11815/2383Test
https://doi.org/10.1136/openhrt-2019-001220Test
https://hdl.handle.net/20.500.11815/2383Test

المؤلفون: Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Bjornsson, Hans

المساهمون: Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

مصطلحات موضوعية: Burden, Caregiver, Kabuki syndrome, Survey, Erfðasjúkdómar

وصف الملف: 1592-1600

العلاقة: American Journal of Medical Genetics Part A;182(7); Theodore-Oklota, C., Egan, S., Paulich, M., Evans, C.J., Hartman, D.S., Hoffman, D.L., Björnsson, H.T., 2020. Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.61584; 1552-4833 (eISSN); https://hdl.handle.net/20.500.11815/2311Test; American Journal of Medical Genetics Part A

الإتاحة: https://doi.org/20.500.11815/2311Test
https://doi.org/10.1002/ajmg.a.61584Test
https://hdl.handle.net/20.500.11815/2311Test

المؤلفون: Fahrner, Jill A, Bjornsson, Hans T

المساهمون: 1 McKusick-Nathans Institute of Genetic Medicine, 21205. 2 Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. 3 Landspitali University Hospital, Reykjavik 101, Iceland. 4 Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.

المصدر: Human molecular genetics ; 28 ; R2 ; R254 ; R264 ; United States ; England

مصطلحات موضوعية: Mendelian disorders, Erfðasjúkdómar, Genetic Diseases, Inborn

العلاقة: https://academic.oup.com/hmg/article/28/R2/R254/5583234Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872430Test/; Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet. 2019;28(R2):R254-R64.doi:10.1093/hmg/ddz174.; http://hdl.handle.net/2336/621259Test; Human Molecular Genetics

الإتاحة: https://doi.org/10.1093/hmg/ddz174Test
http://hdl.handle.net/2336/621259Test

المؤلفون: Gaudet, Mia M, Kuchenbaecker, Karoline B, Vijai, Joseph, Klein, Robert J, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M, Lee, Andrew, Dennis, Joe, Healey, Sue, Wijnen, Juul T, Ausems, Margreet G E M, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Domchek, Susan M, Porteous, Mary E, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B, Manoukian, Siranoush, Pfeiler, Georg, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L, Benitez, Javier, Southey, Melissa C, Mannermaa, Arto, Schmidt, Marjanka K, Fasching, Peter A, Peto, Julian, Humphreys, Manjeet K, Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J, Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E, Lambrechts, Diether, Milne, Roger L, Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G, Haiman, Christopher A, Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Dicks, Ed, Hooning, Maartje J, Cox, Angela, Pharoah, Paul D P, Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Hall, Per, Couch, Fergus J, Soucy, Penny, Simard, Jacques, Altshuler, David, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Offit, Kenneth, Sinilnikova, Olga M, Pankratz, Vernon S, Wang, Xianshu, Eldridge, Ronald C, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B L, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K, Nathanson, Katherine L, Piedmonte, Marion, Singer, Christian F, Thomassen, Mads, Hansen, Thomas v O, Neuhausen, Susan L, Blanco, Ignacio, Greene, Mark H, Garber, Judith, Weitzel, Jeffrey N, Andrulis, Irene L, Goldgar, David E, D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J, Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M W, van der Hout, Annemarie H, Kets, Carolien M, Aalfs, Cora M

المساهمون: Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA, Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England, Mem Sloan Kettering Canc Ctr, Clin Genet Serv, New York, NY 10021 USA, Mem Sloan Kettering Canc Ctr, Program Canc Biol & Genet, New York, NY 10021 USA, NYU, Dept Environm Med, Div Epidemiol, Sch Med, New York, NY 10016 USA, Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England, Queensland Inst Med Res, Genet & Populat Hlth Div, Brisbane, Qld 4006, Australia, Ctr Hosp Univ Quebec, Canc Genom Lab, Quebec City, PQ, Canada, Univ Laval, Quebec City, PQ, Canada, Hosp Civils Lyon, Unite Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, Lyon, France, Univ Lyon 1, INSERM U1052, CNRS UMR5286, Ctr Rech Cancerol Lyon, F-69365 Lyon, France, Mayo Clin, Dept Hlth Sci, Rochester, MN USA, Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA, Emory Univ, Dept Epidemiol, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA, Ctr Innovat Genome Quebec, Montreal, PQ, Canada, McGill Univ, Montreal, PQ, Canada, Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands, Inst Curie, Dept Tumour Biol, Paris, France, Inst Curie, INSERM U830, Paris, France, Univ Paris 05, Sorbonne Paris Cite, Paris, France, Peter MacCallum Canc Ctr, Kathleen Cuningham Consortium Res Familial Breast, Melbourne, Vic, Australia, Fdn IRCCS Ist Nazl Tumori, Unit Mol Bases Genet Risk & Genet Testing, Dept Prevent & Predict Med, Milan, Italy, Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy, Univ Hosp Cologne, Cologne, Germany, Univ Penn, Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA, Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA, Roswell Pk Canc Inst, Gynecol Oncol Grp, Stat & Data Ctr, Buffalo, NY 14263 USA, Med Univ Vienna, Dept Obstet & Gyncol, Vienna, Austria, Med Univ Vienna, Ctr Comprehens Canc, Vienna, Austria, Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark, Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada, Copenhagen Univ Hosp, Ctr Genom Med, Rigshosp, Copenhagen, Denmark, City Hope Natl Med Ctr, Dept Populat Sci, Beckman Res Inst, Duarte, CA USA, IDIBELL Catalan Inst Oncol, Genet Counseling Unit, Hereditary Canc Program, Barcelona, Spain, NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA, Dana Farber Partners CancerCare, Dept Med Oncol, Boston, MA USA, City Hope Natl Med Ctr, Clin Canc Genet, City Hope Clin Canc Genet Community Res Network, Duarte, CA USA, Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada, Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5S 1A1, Canada, Univ Utah, Sch Med, Dept Dermatol, Salt Lake City, UT USA, Univ Padua, Dept Surg Oncol & Gastroenterol, Padua, Italy, Ist Oncolog Veneto IOV IRCCS, Immunol & Mol Oncol Unit, Padua, Italy, Hosp Clin San Carlos, Mol Oncol Lab, IdISSC, Madrid, Spain, Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland, Univ Helsinki, Cent Hosp, Helsinki, Finland, Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain, Biomed Network Rare Dis CIBERER, Madrid, Spain, Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa, Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland, Univ Iceland, BMC, Fac Med, Reykjavik, Iceland, Clalit Natl Israeli Canc Control Ctr, Haifa, Israel, Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel, B Rappaport Fac Med, Haifa, Israel, Erasmus Univ, Dept Clin Genet, Family Canc Clin, Med Ctr, NL-3000 DR Rotterdam, Netherlands, Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands, Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands, Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands, Leiden Univ, Dept Human Genet, Med Ctr, NL-2300 RA Leiden, Netherlands, Leiden Univ, Dept Clin Genet, Med Ctr, NL-2300 RA Leiden, Netherlands, Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands, Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands, Guys & St Thomas NHS Fdn Trust, London, England, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England, Univ Cambridge, Dept Med Genet, Cambridge, England, Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland, Univ Bordeaux, Canc Genet Unit, INSERM U916, Inst Bergonie, Bordeaux, France, Hotel Dieu Ctr Hosp, Lab Genet Chromosom, Chambery, France, Fdn IRCCS Ist Nazl Tumori INT, Unit Med Genet, Dept Prevent & Predict Med, Milan, Italy, Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy, Univ Florence, Fiorgen Fdn Pharmacogenom, Florence, Italy, Univ Florence, Unit Med Genet, Dept Clin Physiopathol, Florence, Italy, Univ Kiel, Univ Hosp Schleswig Holstein, Kiel, Germany, Tech Univ Munich, Klinikum Rechts Isar, Dept Obstet & Gynaecol, Div Tumor Genet, D-80290 Munich, Germany, Heidelberg Univ, Heidelberg, Germany, Chaim Sheba Med Ctr, Tel Aviv, Israel, Aarhus Univ Hosp, Dept Clin Genet, DK-8000 Aarhus, Denmark, IDIBELL Catalan Inst Oncol, Hereditary Canc Program, Mol Diagnost Unit, Barcelona, Spain, Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia, Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands, Univ Hosp Erlangen, Univ Breast Ctr Franconia, Dept Gynecol & Obstet, Erlangen, Germany, Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA, London Sch Hyg & Trop Med, London WC1, England, Guys St Thomas NHS Fdn Trust Partnership Kings Co, Div Canc Studies, NIHR Comprehens Biomed Res Ctr, London, England, Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany, German Canc Res Ctr, Mol Epidemiol Grp, Heidelberg, Germany, INSERM, CESP Ctr Res Epidemiol & Populat Health, Environm Epidemiol Canc U1018, Villejuif, France, Univ Paris 11, UMR S 1018, Villejuif, France, Copenhagen Gen Populat Study, Copenhagen, Denmark, Univ Copenhagen, Dept Clin Biochem, Herlev Hosp, Copenhagen Univ Hosp, Copenhagen, Denmark, German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany, Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany, Univ Tubingen, Tubingen, Germany, Deutsch Krebsforschungszentrum DKFZ, Heidelberg, Germany, German Social Accid Insurance IPA, Inst Prevent & Occupat Med, Bochum, Germany, Univ Saarland, Inst & Outpatient Clin Occupat Med, Med Ctr, Homburg, Germany, Univ Saarland, Fac Med, Homburg, Germany, Univ Bonn, Inst Pathol, Fac Med, Bonn, Germany, Johanniter Krankenhaus, Dept Internal Med, Evangel Kliniken Bonn gGmbH, Bonn, Germany, Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland, Hannover Med Sch, Dept Obstet & Gynecol, Hannover, Germany, Karolinska Inst, Dept Pathol & Oncol, Stockholm, Sweden, Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Bioctr Kuopio, Sch Med,Canc Ctr Eastern Finland, Kuopio, Finland, Kuopio Univ Hosp, Imaging Ctr, Dept Clin Pathol, SF-70210 Kuopio, Finland, Katholieke Univ Leuven VIB, Vesalius Res Ctr, Louvain, Belgium, Katholieke Univ Leuven, Lab Translat Genet, Dept Oncol, Louvain, Belgium, German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany, Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia, Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia, Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA, Univ Oulu, Oulu Univ Hosp, Lab Canc Genet & Tumor Biol, Dept Clin Genet, Oulu, Finland, Univ Oulu, Oulu Univ Hosp, Bioctr Oulu, Oulu, Finland, Leiden Univ, Dept Pathol, Med Ctr, Leiden, Netherlands, Inst Canc Res, Div Genet & Epidemiol, Sutton, Surrey, England, Inst Canc Res, Div Breast Canc Res, Sutton, Surrey, England, Inst Canc Res, Div Breast Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England, Karolinska Inst, Stockholm, Sweden, Erasmus Univ, Dept Med Oncol, Med Ctr, Rotterdam, Netherlands, Univ Sheffield, CRUK YCR Sheffield Canc Res Ctr, Dept Oncol, Sheffield, S Yorkshire, England, Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland, Spanish Natl Canc Res Ctr CNIO, Human Genotyping CEGEN Unit, Human Canc Genet Program, Madrid, Spain, Massachusetts Gen Hosp, Dept Mol Biol & Med, Boston, MA 02114 USA, Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA, Harvard Univ, Sch Med, Dept Genet, Boston, MA USA, Harvard Univ, Sch Med, Dept Med, Boston, MA USA

مصطلحات موضوعية: Brjóstakrabbamein, Erfðasjúkdómar, Adult, Aged, Alleles, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Chromosomes, Human, Pair 6, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Heterozygote, Humans, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Risk Factors

العلاقة: http://dx.doi.org/10.1371/journal.pgen.1003173Test; PLoS Genet. 2013, 9 (3):e1003173; http://hdl.handle.net/2336/313098Test; PLoS genetics

الإتاحة: https://doi.org/10.1371/journal.pgen.1003173Test
http://hdl.handle.net/2336/313098Test

المؤلفون: Maggie Paulich, Christina Theodore-Oklota, Hans T. Bjornsson, Deborah S. Hartman, Shayna Egan, Deborah Hoffman, Christopher J. Evans

المساهمون: Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

المصدر: American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Emotions, Burden, Erfðasjúkdómar, Infections, Affect (psychology), burden, Young Adult, Seizures, Surveys and Questionnaires, Patient experience, Genetics, medicine, Humans, Abnormalities, Multiple, survey, Hearing Loss, Psychiatry, Survey, caregiver, Genetics (clinical), Depression (differential diagnoses), Kabuki syndrome, business.industry, Genetic disorder, Original Articles, Middle Aged, medicine.disease, Caregiver, Hematologic Diseases, Additional research, Caregivers, Vestibular Diseases, Face, Autism, Anxiety, Female, Original Article, medicine.symptom, Deglutition Disorders, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293dc8334bb01ed3d9793e785bf8098Test
https://hdl.handle.net/20.500.11815/2311Test

المؤلفون: Aygun, Deniz, Bjornsson, Hans T

المساهمون: 1 School of Arts and Sciences, Tufts University, Medford, MA, USA. 2 McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA. 3 Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. 4 Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 5 Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

المصدر: Developmental medicine and child neurology ; United States ; England

مصطلحات موضوعية: Erfðasjúkdómar, Epigenomics, Genetic Diseases, Inborn

العلاقة: Aygun D, Bjornsson HT. Clinical epigenetics: a primer for the practitioner. Dev Med Child Neurol. 2020;62(2):192–200. doi:10.1111/dmcn.14398; http://hdl.handle.net/2336/621245Test; Developmental Medicine and Child Neurology

الإتاحة: https://doi.org/10.1111/dmcn.14398Test
http://hdl.handle.net/2336/621245Test

المؤلفون: Singer, Christian F, Balmaña, Judith, Bürki, Nicole, Delaloge, Suzette, Filieri, Maria Elisabetta, Gerdes, Anna-Marie, Grindedal, Eli Marie, Han, Sileni, Johansson, Oskar, Kaufman, Bella, Krajc, Mateja, Loman, Niklas, Olah, Edith, Paluch-Shimon, Shani, Plavetic, Natalija Dedic, Pohlodek, Kamil, Rhiem, Kerstin, Teixeira, Manuel, Evans, D Gareth

المساهمون: 1 Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria. Electronic address: christian.singer@meduniwien.ac.at. 2 Medical Oncology Department, Hospital Vall d'Hebron, Vall d'Hebron, Institute of Oncology, Universitat Autònoma de Barcelona, Barcelona, Spain. 3 Department of Gynecology and Obstetrics, University Hospital Basel (UHB), Spitalstrasse 21, 4031, Basel, Switzerland. 4 Department of Cancer Medicine, Gustave Roussy, 114 Rue Edouard Vaillant, 94800 Villejuif, France. 5 Department of Medical Oncology, University Hospital of Modena, Via del Pozzo, Modena, Italy. 6 Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. 7 Department of Medical Genetics, Oslo University Hospital, Oslo, Norway. 8 Department of Gynecology and Obstetrics, UZ Leuven, Leuven, Belgium. 9 Landspitali-the National University Hospital of Iceland, Reykjavik 101, Iceland. 10 Breast Oncology Institute, Sheba Medical Center, Tel Hashomer, Israel. 11 Institute of Oncology Ljubljana, Slovenia, Zaloska 2, 1000 Ljubljana, Slovenia. 12 Department of Clinical Sciences, Division of Oncology and Pathology, Lund University Hospital, 221 85 Lund, Sweden. 13 Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. 14 Shaare Zedek Medical Centre, Jerusalem, Israel. 15 Department of Oncology, Division of Medical Oncology, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia. 16 Second Department of Gynecology and Obstetrics, Comenius University of Bratislava, Faculty of Medicine, 82606 Bratislava, Slovakia. 17 Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, Medical Faculty, University Hospital of Cologne, D-50931 Cologne, Germany. 18 Department of Genetics, Portuguese Oncology Institute, Porto, Portugal. 19 Department of Genomic Medicine, Division of Evolution and Genomic Science, University of Manchester, MAHSC, St Mary's Hospital, Manchester M13 9WL, United Kingdom.

المصدر: European journal of cancer (Oxford, England : 1990)

مصطلحات موضوعية: BRCA, BRCA1, BRCA2, Genetic counselling, Genetic testing, Hereditary breast cancer, Metastatic breast cancer, Brjóstakrabbamein, Erfðasjúkdómar, Gen, Breast Neoplasms, Genetic Counseling, Genes

العلاقة: https://www.sciencedirect.com/science/article/pii/S0959804918314357Test; Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. 2019, 106:54-60 Eur J Cancer; http://hdl.handle.net/2336/620800Test; European journal of cancer

الإتاحة: https://doi.org/10.1016/j.ejca.2018.10.007Test
http://hdl.handle.net/2336/620800Test

المؤلفون: Javier Díez, Petr Jarolim, Jonathan G. Seidman, Begoña López, Gunnar Gunnarsson, Berglind Adalsteinsdottir, Christine E. Seidman, Carolyn Y. Ho, Ragnar Danielsen, Barry J. Maron, Michael A. Burke

المساهمون: Howard Hughes Medical Institute, National Institutes of Health (Estados Unidos), Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland

المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)
Open Heart, Vol 7, Iss 1 (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, medicine.drug_class, Diastole, Disease, Erfðasjúkdómar, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Natriuretic peptide, Erfðafræði, cardiovascular diseases, Cardiomyopathy hypertrophic, Subclinical infection, business.industry, Hypertrophic cardiomyopathy, medicine.disease, Penetrance, 030104 developmental biology, Endocrinology, lcsh:RC666-701, Echocardiography, Hjartasjúkdómar, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27fed8450ea520b101ca7fe64b4a7298Test
https://doi.org/10.1136/openhrt-2019-001220Test

المؤلفون: Viktor Ingi Ágústsson 1997-

المساهمون: Háskóli Íslands

مصطلحات موضوعية: Læknisfræði, Erfðasjúkdómar

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1946/41269Test

الإتاحة: http://hdl.handle.net/1946/41269Test