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Page 1
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: seidel mg. 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.
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: seidel mg. Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018. Front Immunol. 2018. PMID: 30013564 Free PMC article.
Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.
Penkert J, Strüwe FJ, Dutzmann CM, Doergeloh BB, Montellier E, Freycon C, Keymling M, Schlemmer HP, Sänger B, Hoffmann B, Gerasimov T, Blattmann C, Fetscher S, Frühwald M, Hettmer S, Kordes U, Ridola V, Kroiss Benninger S, Mastronuzzi A, Schott S, Nees J, Prokop A, Redlich A, Seidel MG, Zimmermann S, Pajtler KW, Pfister SM, Hainaut P, Kratz CP. Penkert J, et al. Among authors: seidel mg. J Hematol Oncol. 2022 Aug 16;15(1):107. doi: 10.1186/s13045-022-01332-1. J Hematol Oncol. 2022. PMID: 35974385 Free PMC article.
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K. Pannicke U, et al. Among authors: seidel mg. Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168. Hum Mutat. 2010. PMID: 19953608
Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.
Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation. Seidel MG, et al. J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. J Allergy Clin Immunol. 2018. PMID: 28502825 Clinical Trial. No abstract available.
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.
Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR. Bomken S, et al. Among authors: seidel mg. Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Front Immunol. 2018. PMID: 30619276 Free PMC article. Review.
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
Karastaneva A, Nebral K, Schlagenhauf A, Baschin M, Palankar R, Juch H, Heitzer E, Speicher MR, Höfler G, Grigorow I, Urban C, Benesch M, Greinacher A, Haas OA, Seidel MG. Karastaneva A, et al. Among authors: seidel mg. J Med Genet. 2020 Jun;57(6):427-433. doi: 10.1136/jmedgenet-2019-106339. Epub 2019 Nov 8. J Med Genet. 2020. PMID: 31704777
133 results