Works matching AU Stokman, Marijn F.

Results: 6
    1

    Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience.

    Published in:
    Andrology, 2025, v. 13, n. 5, p. 1078, doi. 10.1111/andr.13742
    By:
    • Oud, Manon S.;
    • de Leeuw, Nicole;
    • Smeets, Dominique F. C. M.;
    • Ramos, Liliana;
    • van der Heijden, Godfried W.;
    • Timmermans, Raoul G. J.;
    • van de Vorst, Maartje;
    • Hofste, Tom;
    • Kempers, Marlies J. E.;
    • Stokman, Marijn F.;
    • D'Hauwers, Kathleen W. M.;
    • Faas, Brigitte H. W.;
    • Westra, Dineke
    Publication type:
    Article
    2

    Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004594
    By:
    • Slaats, Gisela G.;
    • Ghosh, Amiya K.;
    • Falke, Lucas L.;
    • Le Corre, Stéphanie;
    • Shaltiel, Indra A.;
    • van de Hoek, Glenn;
    • Klasson, Timothy D.;
    • Stokman, Marijn F.;
    • Logister, Ive;
    • Verhaar, Marianne C.;
    • Goldschmeding, Roel;
    • Nguyen, Tri Q.;
    • Drummond, Iain A.;
    • Hildebrandt, Friedhelm;
    • Giles, Rachel H.
    Publication type:
    Article
    3

    Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

    Published in:
    Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
    By:
    • Stokman, Marijn F.;
    • van der Zwaag, Bert;
    • van de Kar, Nicole C. A. J.;
    • van Haelst, Mieke M.;
    • van Eerde, Albertien M.;
    • van der Heijden, Joost W.;
    • Kroes, Hester Y.;
    • Ippel, Elly;
    • Schulp, Annelien J. A.;
    • van Gassen, Koen L.;
    • van Rooij, Iris A. L. M.;
    • Giles, Rachel H.;
    • Beales, Philip L.;
    • Roepman, Ronald;
    • Arts, Heleen H.;
    • Bongers, Ernie M. H. F.;
    • Renkema, Kirsten Y.;
    • Knoers, Nine V. A. M.;
    • van Reeuwijk, Jeroen;
    • Lilien, Marc R.
    Publication type:
    Article
    4

    De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
    By:
    • Stokman, Marijn F.;
    • Oud, Machteld M.;
    • van Binsbergen, Ellen;
    • Slaats, Gisela G.;
    • Nicolaou, Nayia;
    • Renkema, Kirsten Y.;
    • Nijman, Isaac J.;
    • Roepman, Ronald;
    • Giles, Rachel H.;
    • Arts, Heleen H.;
    • Knoers, Nine V. A. M.;
    • van Haelst, Mieke M.
    Publication type:
    Article
    5

    Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 5, p. 778, doi. 10.1093/hmg/ddy381
    By:
    • Reilly, Madeline Louise;
    • Stokman, Marijn F;
    • Magry, Virginie;
    • Jeanpierre, Cecile;
    • Alves, Marine;
    • Paydar, Mohammadjavad;
    • Hellinga, Jacqueline;
    • Delous, Marion;
    • Pouly, Daniel;
    • Failler, Marion;
    • Martinovic, Jelena;
    • Loeuillet, Laurence;
    • Leroy, Brigitte;
    • Tantau, Julia;
    • Roume, Joelle;
    • Gregory-Evans, Cheryl Y;
    • Shan, Xianghong;
    • Filges, Isabel;
    • Allingham, John S;
    • Kwok, Benjamin H
    Publication type:
    Article
    6

    Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy.

    Published in:
    Journal of Pathology, 2023, v. 261, n. 4, p. 455, doi. 10.1002/path.6202
    By:
    • Knoppert, Sebastiaan N;
    • Keijzer‐Veen, Mandy G;
    • Valentijn, Floris A;
    • van den Heuvel‐Eibrink, Marry M;
    • Lilien, Marc R;
    • van den Berg, Gerrit;
    • Haveman, Lianne M;
    • Stokman, Marijn F;
    • Janssens, Geert O;
    • van Kempen, Sven;
    • Broekhuizen, Roel;
    • Goldschmeding, Roel;
    • Nguyen, Tri Q
    Publication type:
    Article