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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: ehrencrona h. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
Building a precision medicine infrastructure at a national level: The Swedish experience.
Edsjö A, Lindstrand A, Gisselsson D, Mölling P, Friedman M, Cavelier L, Johansson M, Ehrencrona H, Fagerqvist T, Strid T, Lovmar L, Jacobsson B, Johansson Å, Engstrand L, Wheelock CE, Sikora P, Wirta V, Fioretos T, Rosenquist R; Genomic Medicine Sweden (GMS). Edsjö A, et al. Among authors: ehrencrona h. Camb Prism Precis Med. 2023 Feb 27;1:e15. doi: 10.1017/pcm.2023.3. eCollection 2023. Camb Prism Precis Med. 2023. PMID: 38550923 Free PMC article. Review.
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A. Wallenius J, et al. Among authors: ehrencrona h. Am J Hum Genet. 2024 Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29. Am J Hum Genet. 2024. PMID: 38035881 Free PMC article.
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S, Kafantari E, Wallenius J, Karremo C, Alinder E, Dobloug S, Landqvist Waldö M, Englund E, Ehrencrona H, Wictorin K, Karrman K, Puschmann A. Gorcenco S, et al. Among authors: ehrencrona h. J Neurol. 2024 Jan;271(1):526-542. doi: 10.1007/s00415-023-11990-x. Epub 2023 Oct 3. J Neurol. 2024. PMID: 37787810 Free PMC article.
Genetic counselling legislation and practice in cancer in EU Member States.
McCrary JM, Van Valckenborgh E, Poirel HA, de Putter R, van Rooij J, Horgan D, Dierks ML, Antonova O, Brunet J, Chirita-Emandi A, Colas C, Dalmas M, Ehrencrona H, Grima C, Janavičius R, Klink B, Koczok K, Krajc M, Lace B, Leitsalu L, Mistrik M, Paneque M, Primorac D, Roetzer KM, Ronez J, Slámová L, Spanou E, Stamatopoulos K, Stoklosa T, Strang-Karlsson S, Szakszon K, Szczałuba K, Turner J, van Dooren MF, van Zelst-Stams WAG, Vassallo LM, Wadt KAW, Žigman T, Ripperger T, Genuardi M, Van den Bulcke M, Bergmann AK. McCrary JM, et al. Among authors: ehrencrona h. Eur J Public Health. 2024 Aug 1;34(4):666-675. doi: 10.1093/eurpub/ckae093. Eur J Public Health. 2024. PMID: 38905592 Free PMC article.
European Stop Tyrosine Kinase Inhibitor Trial (EURO-SKI) in Chronic Myeloid Leukemia: Final Analysis and Novel Prognostic Factors for Treatment-Free Remission.
Mahon FX, Pfirrmann M, Dulucq S, Hochhaus A, Panayiotidis P, Almeida A, Mayer J, Hjorth-Hansen H, Janssen JJWM, Mustjoki S, Martinez-Lopez J, Vestergaard H, Ehrencrona H, Machová Poláková K, Olsson-Strömberg U, Ossenkoppele G, Berger MG, Etienne G, Dengler J, Brümmendorf TH, Burchert A, Réa D, Rousselot P, Nicolini FE, Hofmann WK, Richter J, Saussele S; EURO-SKI Investigators; Investigators. Mahon FX, et al. Among authors: ehrencrona h. J Clin Oncol. 2024 Jun 1;42(16):1875-1880. doi: 10.1200/JCO.23.01647. Epub 2024 Mar 12. J Clin Oncol. 2024. PMID: 38471049
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A, Törngren T, Rosén A, Arver B, Einbeigi Z, Haraldsson K, Ståhlbom AK, Kuchinskaya E, Lindblom A, Melin B, Paulsson-Karlsson Y, Stenmark-Askmalm M, Tham E, von Wachenfeldt A, Kvist A, Borg Å, Ehrencrona H. Öfverholm A, et al. Among authors: ehrencrona h. BMC Cancer. 2023 Aug 10;23(1):738. doi: 10.1186/s12885-023-11229-y. BMC Cancer. 2023. PMID: 37563628 Free PMC article.
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