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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: gebre medhin s. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group; Gebre-Medhin S, Nordling M, Peltomäki P. Olkinuora A, et al. Among authors: gebre medhin s. Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573798 Free PMC article.
Genetic anticipation in Swedish Lynch syndrome families.
von Salomé J, Boonstra PS, Karimi M, Silander G, Stenmark-Askmalm M, Gebre-Medhin S, Aravidis C, Nilbert M, Lindblom A, Lagerstedt-Robinson K. von Salomé J, et al. Among authors: gebre medhin s. PLoS Genet. 2017 Oct 31;13(10):e1007012. doi: 10.1371/journal.pgen.1007012. eCollection 2017 Oct. PLoS Genet. 2017. PMID: 29088233 Free PMC article.
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Svensson S, Zagoras T, Aravidis C, Askmalm MS, Björck E, Borg Å, Kuchinskaya E, Nilbert M, Nordling M, Rohlin A, Silander G, Lagerstedt-Robinson K, Gebre-Medhin S. Svensson S, et al. Among authors: gebre medhin s. Genes Chromosomes Cancer. 2022 Oct;61(10):585-591. doi: 10.1002/gcc.23049. Epub 2022 May 2. Genes Chromosomes Cancer. 2022. PMID: 35430768 Free PMC article.
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.
Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E. Karimi M, et al. Among authors: gebre medhin s. Hered Cancer Clin Pract. 2018 Oct 23;16:16. doi: 10.1186/s13053-018-0098-9. eCollection 2018. Hered Cancer Clin Pract. 2018. PMID: 30386444 Free PMC article.
Pancreatic cancer occurrence in Ferguson-Smith syndrome.
Saleh K, Gebre-Medhin S, Christensen G. Saleh K, et al. Among authors: gebre medhin s. JAAD Case Rep. 2018 Jun 12;4(6):565-567. doi: 10.1016/j.jdcr.2018.05.010. eCollection 2018 Jul. JAAD Case Rep. 2018. PMID: 29998175 Free PMC article. No abstract available.
38 results