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Page 1
Beta-Blockers after Myocardial Infarction and Preserved Ejection Fraction.
Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators. Yndigegn T, et al. N Engl J Med. 2024 Apr 18;390(15):1372-1381. doi: 10.1056/NEJMoa2401479. Epub 2024 Apr 7. N Engl J Med. 2024. PMID: 38587241 Clinical Trial.
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.
Saba KH, Difilippo V, Kovac M, Cornmark L, Magnusson L, Nilsson J, van den Bos H, Spierings DC, Bidgoli M, Jonson T, Sumathi VP, Brosjö O, Staaf J, Foijer F, Styring E, Nathrath M, Baumhoer D, Nord KH. Saba KH, et al. Among authors: jonson t. J Pathol. 2024 Feb;262(2):147-160. doi: 10.1002/path.6219. Epub 2023 Nov 27. J Pathol. 2024. PMID: 38010733
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander J, Ullmark T, Ehrencrona H, Jonson T, Piccinelli P, Samuelsson S, Löwgren K, Falkenius-Schmidt K, Ehinger J, Stenfeldt K, Värendh M. Elander J, et al. Among authors: jonson t. Int J Pediatr Otorhinolaryngol. 2022 Aug;159:111218. doi: 10.1016/j.ijporl.2022.111218. Epub 2022 Jun 24. Int J Pediatr Otorhinolaryngol. 2022. PMID: 35779349 Free article.
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism.
Christesen HT, Christensen LG, Löfgren ÅM, Brøndum-Nielsen K, Svensson J, Brusgaard K, Samuelsson S, Elfving M, Jonson T, Grønskov K, Rasmussen L, Backman T, Hansen LK, Larsen AR, Petersen H, Detlefsen S. Christesen HT, et al. Among authors: jonson t. Eur J Med Genet. 2020 Jan;63(1):103632. doi: 10.1016/j.ejmg.2019.02.004. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797057 Free article.
Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer.
Karlsson J, Valind A, Holmquist Mengelbier L, Bredin S, Cornmark L, Jansson C, Wali A, Staaf J, Viklund B, Øra I, Börjesson A, Backman T, Braekeveldt N, Sandstedt B, Pal N, Isaksson A, Lackner BG, Jonson T, Bexell D, Gisselsson D. Karlsson J, et al. Among authors: jonson t. Nat Genet. 2018 Jul;50(7):944-950. doi: 10.1038/s41588-018-0131-y. Epub 2018 Jun 4. Nat Genet. 2018. PMID: 29867221
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Among authors: jonson t. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: jonson t. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
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