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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 1
2004 3
2005 2
2006 2
2007 1
2008 1
2009 1
2010 6
2011 2
2012 7
2013 5
2014 5
2015 7
2016 4
2017 4
2018 4
2019 12
2020 6
2021 4
2022 6
2023 5
2024 5

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79 results

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Page 1
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: wimmer k. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.
Seidl-Philipp M, Veyt N, Schnaiter S, Krogsdam A, Schwendinger S, Maertens O, Fauth C, Schmuth M, Legius E, Wimmer K, Brems H. Seidl-Philipp M, et al. Among authors: wimmer k. J Dtsch Dermatol Ges. 2024 Mar;22(3):426-429. doi: 10.1111/ddg.15302_g. J Dtsch Dermatol Ges. 2024. PMID: 38450814 No abstract available.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. Hinić S, et al. Among authors: wimmer k. Genet Med. 2024 Feb 13;26(5):101101. doi: 10.1016/j.gim.2024.101101. Online ahead of print. Genet Med. 2024. PMID: 38362852 Free article.
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
Seidl-Philipp M, Veyt N, Schnaiter S, Krogsdam A, Schwendinger S, Maertens O, Fauth C, Schmuth M, Legius E, Wimmer K, Brems H. Seidl-Philipp M, et al. Among authors: wimmer k. J Dtsch Dermatol Ges. 2024 Mar;22(3):426-428. doi: 10.1111/ddg.15302. Epub 2024 Jan 7. J Dtsch Dermatol Ges. 2024. PMID: 38185792 No abstract available.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M; EURONET-NF; Vidaud D, Pasmant E. Pacot L, et al. J Mol Diagn. 2024 Feb;26(2):150-157. doi: 10.1016/j.jmoldx.2023.11.005. Epub 2023 Nov 25. J Mol Diagn. 2024. PMID: 38008284 Free article.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.
Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K, Messiaen LM. Koczkowska M, et al. Among authors: wimmer k. Hum Genet. 2023 Jul;142(7):849-861. doi: 10.1007/s00439-023-02555-z. Epub 2023 Apr 25. Hum Genet. 2023. PMID: 37186028 Free PMC article.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Gallon R, et al. Among authors: wimmer k. Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. Gastroenterology. 2023. PMID: 36586540 Free article.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K. Schamschula E, et al. Among authors: wimmer k. Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350. Biomolecules. 2022. PMID: 36291559 Free PMC article.
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
Gallon R, Phelps R, Betts L, Hayes C, Masic D, Irving JAE, McAnulty C, Saha V, Vora A, Wimmer K, Motwani J, Macartney C, Burn J, Jackson MS, Moorman AV, Santibanez-Koref M. Gallon R, et al. Among authors: wimmer k. Leuk Lymphoma. 2023 Jan;64(1):217-220. doi: 10.1080/10428194.2022.2131412. Epub 2022 Oct 22. Leuk Lymphoma. 2023. PMID: 36272172 No abstract available.
79 results