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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.
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. 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.
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.
Celiac disease can be predicted by high levels of tissue transglutaminase antibodies in children and adolescents with type 1 diabetes.
Cerqueiro Bybrant M, Udén E, Frederiksen F, Gustafsson AL, Arvidsson CG, Fureman AL, Forsander G, Elding Larsson H, Ivarsson SA, Lindgren M, Ludvigsson J, Marcus C, Pundziute Lyckå A, Persson M, Samuelsson U, Särnblad S, Åkesson K, Örtqvist E, Carlsson A. Cerqueiro Bybrant M, et al. Among authors: ivarsson sa. Pediatr Diabetes. 2021 May;22(3):417-424. doi: 10.1111/pedi.13165. Epub 2020 Dec 12. Pediatr Diabetes. 2021. PMID: 33259121 Free PMC article.
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.
Carlsson A, Shepherd M, Ellard S, Weedon M, Lernmark Å, Forsander G, Colclough K, Brahimi Q, Valtonen-Andre C, Ivarsson SA, Elding Larsson H, Samuelsson U, Örtqvist E, Groop L, Ludvigsson J, Marcus C, Hattersley AT. Carlsson A, et al. Among authors: ivarsson sa. Diabetes Care. 2020 Jan;43(1):82-89. doi: 10.2337/dc19-0747. Epub 2019 Nov 8. Diabetes Care. 2020. PMID: 31704690 Free PMC article.
Tissue transglutaminase autoantibodies in children with newly diagnosed type 1 diabetes are related to human leukocyte antigen but not to islet autoantibodies: A Swedish nationwide prospective population-based cohort study.
Cerqueiro Bybrant M, Grahnquist L, Örtqvist E, Andersson C, Forsander G, Elding Larsson H, Lernmark Å, Ludvigsson J, Marcus C, Carlsson A, Ivarsson SA. Cerqueiro Bybrant M, et al. Among authors: ivarsson sa. Autoimmunity. 2018 Aug;51(5):221-227. doi: 10.1080/08916934.2018.1494160. Epub 2018 Nov 16. Autoimmunity. 2018. PMID: 30444426 Free article.
186 results