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242 results

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Page 1
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. Among authors: ivarsson s. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M. Wouters V, et al. Among authors: ivarsson sa. Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888299 Free PMC article.
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: ivarsson s. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
The effect of carbohydrate intake on glycaemic control in individuals with type 1 diabetes: a randomised, open-label, crossover trial.
Sterner Isaksson S, Ólafsdóttir AF, Ivarsson S, Imberg H, Toft E, Hallström S, Rosenqvist U, Ekström M, Lind M. Sterner Isaksson S, et al. Among authors: ivarsson s. Lancet Reg Health Eur. 2023 Dec 19;37:100799. doi: 10.1016/j.lanepe.2023.100799. eCollection 2024 Feb. Lancet Reg Health Eur. 2023. PMID: 38362553 Free PMC article.
Response to Letter to the Editor From Arroyo et al: "Timing of Puberty, Pubertal Growth, and Adult Height in Short Children Born Small for Gestational Age Treated With Growth Hormone".
Upners EN, Raket LL, Petersen JH, Thankamony A, Roche E, Shaikh G, Kirk JMW, Hoey H, Ivarsson SA, Söder O, Juul A, Jensen RB. Upners EN, et al. Among authors: ivarsson sa. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e1161. doi: 10.1210/clinem/dgad196. J Clin Endocrinol Metab. 2023. PMID: 37097735 No abstract available.
242 results