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Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP. Ripperger T, et al. Among authors: schroeder c. Am J Med Genet A. 2017 Apr;173(4):1017-1037. doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7. Am J Med Genet A. 2017. PMID: 28168833 Review.
PIK3R1 mutations in SHORT syndrome.
Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A. Schroeder C, et al. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 23980586
Screening of mutations in GNAL in sporadic dystonia patients.
Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Dufke C, et al. Among authors: schroeder c. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9. Mov Disord. 2014. PMID: 24408567
Genome-wide UPD screening in patients with intellectual disability.
Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Schroeder C, et al. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7. Eur J Hum Genet. 2014. PMID: 24801762 Free PMC article.
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.
Löffler MW, Steinhilber J, Hilke FJ, Haen SP, Bösmüller H, Montes-Mojarro IA, Bonzheim I, Stäbler A, Faust U, Grasshoff U, Königsrainer I, Rammensee HG, Kanz L, Königsrainer A, Beckert S, Riess O, Schroeder C. Löffler MW, et al. Among authors: schroeder c. BMC Med Genet. 2018 Aug 15;19(1):144. doi: 10.1186/s12881-018-0651-4. BMC Med Genet. 2018. PMID: 30111295 Free PMC article.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: schroeder c. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C. Roggia C, et al. Among authors: schroeder c. Eur J Cancer. 2023 Jan;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub 2022 Nov 8. Eur J Cancer. 2023. PMID: 36495689
1,198 results