Meier-Gorlin syndrome
de Munnik, Sonja A, Hoefsloot, Elisabeth H, Roukema, Jolt, Schoots, Jeroen, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Published in Orphanet journal of rare diseases (17.09.2015)
Published in Orphanet journal of rare diseases (17.09.2015)
Get full text
Journal Article
Joubert syndrome: genotyping a Northern European patient cohort
Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine VAM, van Haaften, Gijs
Published in European journal of human genetics : EJHG (29.04.2015)
Published in European journal of human genetics : EJHG (29.04.2015)
Get full text
Journal Article
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
Weber, S, Hoffmann, K, Jeck, N, Saar, K, Boeswald, M, Kuwertz-Broeking, E, Meij, I I, Knoers, N V, Cochat, P, Suláková, T, Bonzel, K E, Soergel, M, Manz, F, Schaerer, K, Seyberth, H W, Reis, A, Konrad, M
Published in European journal of human genetics : EJHG (01.06.2000)
Published in European journal of human genetics : EJHG (01.06.2000)
Get full text
Journal Article
The growing power of Kidney Genetics
Knoers, Nine V.A.M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2022)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2022)
Get full text
Journal Article
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
Get full text
Journal Article
Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., Gharavi, Ali, Ars, Elisabet, Bekheirnia, Mir Reza, Bier, Louise, Bleyer, Anthony J., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine VAM, Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., Wong, Craig S.
Published in American journal of kidney diseases (19.07.2024)
Published in American journal of kidney diseases (19.07.2024)
Get full text
Journal Article
Current insights into renal ciliopathies: what can genetics teach us?
Arts, Heleen H., Knoers, Nine V. A. M.
Published in Pediatric nephrology (Berlin, West) (01.06.2013)
Published in Pediatric nephrology (Berlin, West) (01.06.2013)
Get full text
Journal Article
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
Get full text
Journal Article
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M
Published in Journal of medical genetics (01.05.2013)
Published in Journal of medical genetics (01.05.2013)
Get full text
Journal Article
Joubert syndrome: genotyping a Northern European patient cohort
Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine V A M, van Haaften, Gijs
Published in European journal of human genetics : EJHG (01.02.2016)
Published in European journal of human genetics : EJHG (01.02.2016)
Get full text
Journal Article
Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis
Donker, Albertine E., Raymakers, ReinierA.P., Vlasveld, L. Thom, van Barneveld, Teus, Terink, Rieneke, Dors, Natasja, Brons, Paul P.T., Knoers, Nine V.A.M., Swinkels, Dorine W.
Published in Blood (19.06.2014)
Published in Blood (19.06.2014)
Get full text
Journal Article
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
Neirijnck, Yasmine, Reginensi, Antoine, Renkema, Kirsten Y., Massa, Filippo, Kozlov, Vladimir M., Dhib, Haroun, Bongers, Ernie M.H.F., Feitz, Wout F., van Eerde, Albertien M., Lefebvre, Veronique, Knoers, Nine V.A.M., Tabatabaei, Mansoureh, Schulz, Herbert, McNeill, Helen, Schaefer, Franz, Wegner, Michael, Sock, Elisabeth, Schedl, Andreas
Published in Kidney international (01.05.2018)
Published in Kidney international (01.05.2018)
Get full text
Journal Article
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa
Vermeer, Franciscus C, Bremer, Jeroen, Sietsma, Robert J, Sandilands, Aileen, Hickerson, Robyn P, Bolling, Marieke C, Pasmooij, Anna M G, Lemmink, Henny H, Swertz, Morris A, Knoers, Nine V A M, van der Velde, K Joeri, van den Akker, Peter C
Published in International journal of molecular sciences (12.11.2021)
Published in International journal of molecular sciences (12.11.2021)
Get full text
Journal Article
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
de Baaij, Jeroen H F, Dorresteijn, Eiske M, Hennekam, Eric A M, Kamsteeg, Erik-Jan, Meijer, Rowdy, Dahan, Karin, Muller, Michelle, van den Dorpel, Marinus A, Bindels, René J M, Hoenderop, Joost G J, Devuyst, Olivier, Knoers, Nine V A M
Published in Nephrology, dialysis, transplantation (01.06.2015)
Published in Nephrology, dialysis, transplantation (01.06.2015)
Get full text
Journal Article
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
Get full text
Journal Article
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine V A M, Bongers, Ernie M H F, Brunner, Han G
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
Get full text
Journal Article