Zobrazeno 1 - 10
of 223
pro vyhledávání: '"Teek R"'
Autor:
Mauring, L., Puusepp, S., Parik, M., Roomets, E., Teek, R., Reimand, T., Pajusalu, S., Kaljurand, K., Õunap, K.
Publikováno v:
In European Journal of Medical Genetics September 2023 66(9)
Autor:
Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K
Publikováno v:
In Advances in Medical Sciences 1 December 2013 58(2):419-428
Autor:
Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg., Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands., Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium., Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium., Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy., Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy., Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy., Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy., Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus., Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus., Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia., Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland., Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia., Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland., Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia., Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia., Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland., Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy., Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy., Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Dec 16; Vol. 31 (24), pp. 4131-4142.
Autor:
Yakoreva M; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Kahre T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Žordania R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Teek R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Tillmann V; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Peet A; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Õiglane-Shlik E; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Murumets Ü; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Vals MA; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Mee P; United Laboratories, Tartu University Hospital, Tartu, Estonia., Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia. katrin.ounap@kliinikum.ee.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. katrin.ounap@kliinikum.ee.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. katrin.ounap@kliinikum.ee.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Nov; Vol. 27 (11), pp. 1649-1658. Date of Electronic Publication: 2019 Jun 11.
Holt-Oram syndrome (HOS) is an autosomal dominant developmental defect involving preaxial radial ray upper limb deformity and variable cardiac defects. It has been demonstrated that HOS is caused by mutations in the T-box transcription factor gene TB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89774f22befb81659d6f5c35d31b2ee3
https://europepmc.org/articles/PMC3214961/
https://europepmc.org/articles/PMC3214961/
Autor:
Reinson K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia., Õiglane-Shlik E; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Talvik I; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Õunapuu A; Neurology Clinic, Tartu University Hospital, Tartu, Estonia., Ennok M; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Neurology and Neurosurgery, University of Tartu, Tartu, Estonia., Teek R; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia., Pajusalu S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia., Murumets Ü; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Tomberg T; Radiology Clinic, Tartu University Hospital, Tartu, Estonia., Puusepp S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Piirsoo A; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia., Reimand T; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia., Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Paediatrics, University of Tartu, Tartu, Estonia.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Aug; Vol. 170 (8), pp. 2173-6. Date of Electronic Publication: 2016 Jun 02.
Autor:
Vals MA; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .; 3 Children's Clinic, Tartu University Hospital , Tartu, Estonia ., Yakoreva M; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Kahre T; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Mee P; 4 United Laboratories, Tartu University Hospital , Tartu, Estonia ., Muru K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Joost K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia ., Teek R; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia ., Soellner L; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany ., Eggermann T; 5 Institute of Human Genetics , RWTH Aachen, Aachen, Germany ., Õunap K; 1 Department of Genetics, United Laboratories, Tartu University Hospital , Tartu, Estonia .; 2 Department of Pediatrics, University of Tartu , Tartu, Estonia .
Publikováno v:
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2015 Dec; Vol. 19 (12), pp. 684-91. Date of Electronic Publication: 2015 Oct 27.
Autor:
Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.
Publikováno v:
Molecular Syndromology; 2010, Vol. 1 Issue 6, p311-315, 5p
Publikováno v:
Molecular Syndromology; 2010, Vol. 1 Issue 6, p307-310, 4p
Autor:
Õiglane-Shlik E; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: eve.oiglane-slik@kliinikum.ee., Puusepp S; Faculty of Medicine, University of Tartu, Tartu, Estonia., Talvik I; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Vaher U; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Rein R; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Tammur P; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Reimand T; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biomedicine, Institute of Biomedicine and Centre for Translational Medicine, University of Tartu, Tartu, Estonia., Teek R; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Žilina O; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia., Tomberg T; Department of Neurology and Neurosurgery, Faculty of Medicine, University of Tartu, Tartu, Estonia., Õunap K; Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2014 May; Vol. 18 (3), pp. 338-46. Date of Electronic Publication: 2014 Jan 25.