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Page 1
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
van der Werf-'t Lam AS, Rodriguez-Girondo M, Villasmil M, Tops CM, van Hest L, Gille HJP, Duijkers FAM, Wagner A, Eikenboom E, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker F, Gomez Garcia EB, Dominguez-Valentin M, Møller P, Suerink M, Nielsen M. van der Werf-'t Lam AS, et al. Among authors: duijkers fam. Genes Chromosomes Cancer. 2024 May;63(5):e23237. doi: 10.1002/gcc.23237. Genes Chromosomes Cancer. 2024. PMID: 38722212
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: duijkers fa. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
Bakhuizen JJ, Postema FAM, van Rijn RR, van Schuppen J, Duijkers FAM, van Noesel CJM, Hennekam RC, Jongmans MCJ, Savci-Heijink CD, Smetsers SE, Terheggen-Lagro SWJ, Hopman SMJ, Oomen MWN, Merks JHM. Bakhuizen JJ, et al. Among authors: duijkers fam. J Pediatr Surg. 2024 Mar;59(3):459-463. doi: 10.1016/j.jpedsurg.2023.10.031. Epub 2023 Oct 21. J Pediatr Surg. 2024. PMID: 37989646 Free article.
Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme.
Kortlever TL, van der Vlugt M, Duijkers FAM, Masclee A, Kraaijenhagen R, Spaander MCW, Lansdorp-Vogelaar I, Bossuyt PM, Dekker E. Kortlever TL, et al. Among authors: duijkers fam. Br J Cancer. 2023 Sep;129(5):791-796. doi: 10.1038/s41416-023-02358-z. Epub 2023 Jul 19. Br J Cancer. 2023. PMID: 37468570 Clinical Trial.
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
van der Werf-'t Lam AS, Terlouw D, Tops CM, van Kan MS, van Hest LP, Gille HJP, Duijkers FAM, Wagner A, Eikenboom EL, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker FE, Gomez Garcia EB, de Wind N, van Wezel JT, Morreau H, Suerink M, Nielsen M. van der Werf-'t Lam AS, et al. Among authors: duijkers fam. Mod Pathol. 2023 Sep;36(9):100240. doi: 10.1016/j.modpat.2023.100240. Epub 2023 Jun 10. Mod Pathol. 2023. PMID: 37307877 Free article.
A large family with MSH3-related polyposis.
Aelvoet AS, Hoekman DR, Redeker BJW, Weegenaar J, Dekker E, van Noesel CJM, Duijkers FAM. Aelvoet AS, et al. Among authors: duijkers fam. Fam Cancer. 2023 Jan;22(1):49-54. doi: 10.1007/s10689-022-00297-x. Epub 2022 Jun 8. Fam Cancer. 2023. PMID: 35675019 Free PMC article.
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R, Brandão RD, Tserpelis D, van Roozendaal CEP, van Oosterhoud CN, Claes KBM, Paulussen ADC, Sinnema M, Vreeburg M, van der Schoot V, Stumpel CTRM, Broen MPG, Spruijt L, Jongmans MCJ, Lesnik Oberstein SAJ, Plomp AS, Misra-Isrie M, Duijkers FA, Louwers MJ, Szklarczyk R, Derks KWJ, Brunner HG, van den Wijngaard A, van Geel M, Blok MJ. Koster R, et al. Among authors: duijkers fa. NPJ Genom Med. 2021 Nov 15;6(1):95. doi: 10.1038/s41525-021-00258-w. NPJ Genom Med. 2021. PMID: 34782607 Free PMC article.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC. Reumers SFI, et al. Among authors: duijkers fam. Clin Genet. 2021 Dec;100(6):692-702. doi: 10.1111/cge.14054. Epub 2021 Sep 25. Clin Genet. 2021. PMID: 34463354 Free PMC article.
26 results