Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis
Stokman, Marijn F., Saunier, Sophie, Benmerah, Alexandre
Published in Frontiers in cell and developmental biology (13.05.2021)
Published in Frontiers in cell and developmental biology (13.05.2021)
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Next-generation sequencing for research and diagnostics in kidney disease
Renkema, Kirsten Y, Stokman, Marijn F, Giles, Rachel H, Knoers, Nine V A M
Published in Nature reviews. Nephrology (01.08.2014)
Published in Nature reviews. Nephrology (01.08.2014)
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Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition
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
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
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
Published in Human molecular genetics (01.03.2019)
Published in Human molecular genetics (01.03.2019)
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Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
Moya Quiros, Vincent, Adham, Ahmed, Convers, Philippe, Lesca, Gaetan, Mauguiere, François, Soulier, Hugo, Arzimanoglou, Alexis, Bayat, Allan, Braakman, Hilde, Camdessanche, Jean-Philippe, Casenave, Philippe, Chaton, Laurence, Chaix, Yves, Chochoi, Maxime, Depienne, Christel, Desportes, Vincent, De Ridder, Jessie, Dinkelacker, Vera, Gardella, Elena, Kluger, Gerhard J, Jung, Julien, Lemesle Martin, Martine, Mancardi, Maria Margherita, Mueller, Markus, Poulat, Anne-Lise, Platzer, Konrad, Roubertie, Agathe, Stokman, Marijn F, Vulto-van Silfhout, Anneke T, Wiegand, Gert, Mazzola, Laure
Published in Annals of neurology (23.08.2024)
Published in Annals of neurology (23.08.2024)
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Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy
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
Published in The Journal of pathology (01.12.2023)
Published in The Journal of pathology (01.12.2023)
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Dollfus, Hélène, Lilien, Marc R, Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M, Cetiner, Metin, van den Akker, Erica L T, Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F, Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M, Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P, Mosbah, Héléna, Van Eerde, Albertien M, Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana
Published in European journal of human genetics : EJHG (31.07.2024)
Published in European journal of human genetics : EJHG (31.07.2024)
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Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies
Stokman, Marijn F., Bijnsdorp, Irene V., Schelfhorst, Tim, Pham, Thang V., Piersma, Sander R., Knol, Jaco C., Giles, Rachel H., Bongers, Ernie M.H.F., Knoers, Nine V.A.M., Lilien, Marc R., Jiménez, Connie R., Renkema, Kirsten Y.
Published in Journal of proteomics (10.02.2019)
Published in Journal of proteomics (10.02.2019)
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Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience
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
Published in Andrology (Oxford) (24.08.2024)
Published in Andrology (Oxford) (24.08.2024)
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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
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.
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)
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
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
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.
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Non-invasive sources of cells with primary cilia from pediatric and adult patients
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
Published in Cilia (London) (01.06.2015)
Published in Cilia (London) (01.06.2015)
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Cellular Senescence Is Associated With CKD Progression in Childhood Cancer Patients With Karyomegalic Interstitial Nephropathy (KIN): FR-PO194
Keijzer-Veen, Mandy G., Knoppert, Sebastiaan, Valentijn, Floris, van den Heuvel-Eibrink, M.M., Berg, Gerrit V., Lilien, Marc, Haveman, Lianne M., Stokman, Marijn F., Janssens, Geert O., Broekhuizen, Roel, Goldschmeding, Roel, Nguyen, Tri Q.
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
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P0050PRE-IMPLANTATION GENETIC TESTING FOR MONOGENIC KIDNEY DISEASE: TWENTY-FIVE YEAR EXPERIENCE IN THE NETHERLANDS
Snoek, R, Stokman, Marijn F, Lichtenbelt, Klaske D, Simcox, Cindy E, Van Tilborg, Theodora C, Paulussen, Aimee D C, Dreessen, Jos C M F, Van Reekum, Franka, Knoers, Nine, De Die-Smulders, Christine, Van Eerde, Albertien M
Published in Nephrology, dialysis, transplantation (01.06.2020)
Published in Nephrology, dialysis, transplantation (01.06.2020)
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Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition: e1004594
Slaats, Gisela G, Ghosh, Amiya K, Falke, Lucas L, Corre, Stéphanie Le, Shaltiel, Indra A, Hoek, Glenn vande, Klasson, Timothy D, Stokman, Marijn F, Logister, Ive, Verhaar, Marianne C, Goldschmeding, Roel, Nguyen, Tri Q, Drummond, Iain A, Hildebrandt, Friedhelm, Giles, Rachel H
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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