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Page 1
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: nathrath m. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
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: nathrath m. 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.
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG. Tesch VK, et al. Among authors: nathrath mhm. Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018. Front Immunol. 2018. PMID: 30013564 Free PMC article.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. Gallon R, et al. Among authors: nathrath m. Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6. Hum Mutat. 2019. PMID: 30740824 Free PMC article.
Germline RET variants underlie a subset of paediatric osteosarcoma.
Kovac M, Woolley C, Ribi S, Blattmann C, Roth E, Morini M, Kovacova M, Ameline B, Kulozik A, Bielack S, Hartmann W, Ballinger ML, Thomas DM, Tomlinson I, Nathrath M, Heinimann K, Baumhoer D. Kovac M, et al. Among authors: nathrath m. J Med Genet. 2021 Jan;58(1):20-24. doi: 10.1136/jmedgenet-2019-106734. Epub 2020 Mar 16. J Med Genet. 2021. PMID: 32179705
Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study.
Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, Boudalil M, Previti C, Wolf S, Schmidt S, Chotewutmontri S, Bewerunge-Hudler M, Schick M, Schlesner M, Hutter B, Taylor L, Borst T, Sutter C, Bartram CR, Milde T, Pfaff E, Kulozik AE, von Stackelberg A, Meisel R, Borkhardt A, Reinhardt D, Klusmann JH, Fleischhack G, Tippelt S, Dirksen U, Jürgens H, Kramm CM, von Bueren AO, Westermann F, Fischer M, Burkhardt B, Wößmann W, Nathrath M, Bielack SS, Frühwald MC, Fulda S, Klingebiel T, Koscielniak E, Schwab M, Tremmel R, Driever PH, Schulte JH, Brors B, von Deimling A, Lichter P, Eggert A, Capper D, Pfister SM, Jones DT, Witt O. Worst BC, et al. Among authors: nathrath m. Eur J Cancer. 2016 Sep;65:91-101. doi: 10.1016/j.ejca.2016.06.009. Epub 2016 Jul 29. Eur J Cancer. 2016. PMID: 27479119
The landscape of genomic alterations across childhood cancers.
Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project; Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM. Gröbner SN, et al. Among authors: nathrath m. Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28. Nature. 2018. PMID: 29489754
Analysis of the PTCH coding region in human rhabdomyosarcoma.
Calzada-Wack J, Schnitzbauer U, Walch A, Wurster KH, Kappler R, Nathrath M, Hahn H. Calzada-Wack J, et al. Among authors: nathrath m. Hum Mutat. 2002 Sep;20(3):233-4. doi: 10.1002/humu.9056. Hum Mutat. 2002. PMID: 12204003
102 results