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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 May;26(5):101101. doi: 10.1016/j.gim.2024.101101. Epub 2024 Feb 13. 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.
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.
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
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.
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.
Guerrini-Rousseau L, Gallon R, Pineda M, Brugières L, Baert-Desurmont S, Corsini C, Dangouloff-Ros V, Gorris MAJ, Haberler C, Hoarau P, Jongmans MC, Kloor M, Loeffen J, Rigaud C, Robbe J, Vibert R, Weijers D, Wimmer K, Colas C; On behalf of the “Care For CMMRD” consortium. Guerrini-Rousseau L, et al. Among authors: wimmer k. Fam Cancer. 2024 Jul 20. doi: 10.1007/s10689-024-00403-1. Online ahead of print. Fam Cancer. 2024. PMID: 39031223 Review.
Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.
Rigaud C, Forster VJ, Al-Tarrah H, Attarbaschi A, Bianchi V, Burke A, Burkhardt B, Colas C, Devalck C, Edwards M, Elitzur S, Garthe AK, Goldberg Y, Guerrini-Rousseau L, Horpaopan S, Januszkiewicz-Lewandowska D, Kabíčková E, Kratz CP, Loeffen J, Pérez-Alonso V, Pineda M, Minard-Colin V, Rueda D, Ruiz-Ponte C, Trinquand A, Uyttebroeck A, Wimmer K, Auperin A, Tabori U, Brugieres L. Rigaud C, et al. Among authors: wimmer k. Pediatr Blood Cancer. 2024 Sep 19:e31302. doi: 10.1002/pbc.31302. Online ahead of print. Pediatr Blood Cancer. 2024. PMID: 39300701
200 results