Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

ανά Stokman, Marijn F., Saunier, Sophie, Benmerah, Alexandre
Τόπος έκδοσης Front Cell Dev Biol (2021)

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

ανά 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.
Έκδοση 2014

Preimplantation Genetic Testing for Monogenic Kidney Disease

ανά Snoek, Rozemarijn, Stokman, Marijn F., Lichtenbelt, Klaske D., van Tilborg, Theodora C., Simcox, Cindy E., Paulussen, Aimée D.C., Dreesen, Jos C.M.F., van Reekum, Franka, Lely, A. Titia, Knoers, Nine V.A.M., de Die-Smulders, Christine E.M., van Eerde, Albertien M.
Τόπος έκδοσης Clin J Am Soc Nephrol (2020)

Non-invasive sources of cells with primary cilia from pediatric and adult patients

ανά Ajzenberg, Henry, Slaats, Gisela G., Stokman, Marijn F., Arts, Heleen H., Logister, Ive, Kroes, Hester Y., Renkema, Kirsten Y., van Haelst, Mieke M., Terhal, Paulien A., van Rooij, Iris A., Keijzer-Veen, Mandy G., Knoers, Nine V., Lilien, Marc R., Jewett, Michael A., Giles, Rachel H.
Τόπος έκδοσης Cilia (2015)

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

ανά 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, Saunier, Sophie, Giles, Rachel H, Benmerah, Alexandre
Τόπος έκδοσης Hum Mol Genet (2019)

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

ανά Monroe, Glen R, Kappen, Isabelle FPM, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne MC, van der Veken, Lars T, van Es, Robert JJ, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs
Τόπος έκδοσης Eur J Hum Genet (2016)

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

ανά 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.
Τόπος έκδοσης Pediatr Nephrol (2018)