Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

द्वारा Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G., Bongers, Ernie M. H. F., O'Driscoll, Mark, Jeggo, Penny A.
प्रकाशित 2013

In Vivo Expression of Putative LMX1B Targets in Nail-Patella Syndrome Kidneys

द्वारा Heidet, Laurence, Bongers, Ernie M. H. F., Sich, Mireille, Zhang, Shao-Yu, Loirat, Chantal, Meyrier, Alain, Broyer, Michel, Landthaler, Gérard, Faller, Bernadette, Sado, Yoshikazu, Knoers, Nine V. A. M., Gubler, Marie-Claire
प्रकाशित 2003

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

द्वारा Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M. H. F.
में प्रकाशित Cilia (2018)

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

द्वारा Bongers, Ernie M.H.F., Shelton, Luke M., Milatz, Susanne, Verkaart, Sjoerd, Bech, Anneke P., Schoots, Jeroen, Cornelissen, Elisabeth A.M., Bleich, Markus, Hoenderop, Joost G.J., Wetzels, Jack F.M., Lugtenberg, Dorien, Nijenhuis, Tom
में प्रकाशित J Am Soc Nephrol (2017)

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

द्वारा Knapp, Karen M., Jenkins, Danielle E., Sullivan, Rosie, Harms, Frederike L., von Elsner, Leonie, Ockeloen, Charlotte W., de Munnik, Sonja, Bongers, Ernie M. H. F., Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S.
में प्रकाशित Eur J Hum Genet (2021)

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

द्वारा Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
प्रकाशित 2004

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

द्वारा Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach, Gabrielle, Lammens, Martin, Smeitink, Jan A M, van der Burgt, Ineke, Morava, Eva
प्रकाशित 2011

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct...

द्वारा Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M., Salo, Antti M., Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F., Bongers, Ernie M. H. F., Juffer, André, Knoers, Nine V. A. M., Renkema, Kirsten Y., Myllyharju, Johanna, Vainio, Seppo J.
में प्रकाशित PLoS One (2016)

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

द्वारा Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F
प्रकाशित 2013

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

द्वारा Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
प्रकाशित 2012

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

द्वारा Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
प्रकाशित 2009

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

द्वारा Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
प्रकाशित 2009

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

द्वारा Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
प्रकाशित 2012

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

द्वारा Ba, Wei, Yan, Yan, Reijnders, Margot R.F., Schuurs-Hoeijmakers, Janneke H.M., Feenstra, Ilse, Bongers, Ernie M.H.F., Bosch, Daniëlle G.M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Nadif Kasri, Nael, De Vries, Bert B.A.
में प्रकाशित Hum Mol Genet (2016)

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

द्वारा Pierrache, Laurence H.M., Kimchi, Adva, Ratnapriya, Rinki, Roberts, Lisa, Astuti, Galuh D.N., Obolensky, Alexey, Beryozkin, Avigail, Tjon-Fo-Sang, Martha J.H., Schuil, Jose, Klaver, Caroline C.W., Bongers, Ernie M.H.F., Haer-Wigman, Lonneke, Schalij, Nicoline, Breuning, Martijn H., Fischer, Gratia M., Banin, Eyal, Ramesar, Raj S., Swaroop, Anand, van den Born, L. Ingeborgh, Sharon, Dror, Cremers, Frans P.M.
में प्रकाशित Ophthalmology (2017)

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

द्वारा Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
प्रकाशित 2011

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

द्वारा Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.
प्रकाशित 2012

CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

द्वारा van der Zanden, Loes F.M., van Rooij, Iris A.L.M., Quaedackers, Josine S.L.T., Nijman, Rien J.M., Steffens, Martijn, de Wall, Liesbeth L.L., Bongers, Ernie M.H.F., Schaefer, Franz, Kirchner, Marietta, Behnisch, Rouven, Bayazit, Aysun K., Caliskan, Salim, Obrycki, Lukasz, Montini, Giovanni, Duzova, Ali, Wuttke, Matthias, Jennings, Rachel, Hanley, Neil A., Milmoe, Natalie J., Winyard, Paul J.D., Renkema, Kirsten Y., Schreuder, Michiel F., Roeleveld, Nel, Feitz, Wout F.J.
में प्रकाशित Eur Urol Open Sci (2021)

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

द्वारा 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.
में प्रकाशित Pediatr Nephrol (2018)

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

द्वारा Burrage, Lindsay C., Charng, Wu-Lin, Eldomery, Mohammad K., Willer, Jason R., Davis, Erica E., Lugtenberg, Dorien, Zhu, Wenmiao, Leduc, Magalie S., Akdemir, Zeynep C., Azamian, Mahshid, Zapata, Gladys, Hernandez, Patricia P., Schoots, Jeroen, de Munnik, Sonja A., Roepman, Ronald, Pearring, Jillian N., Jhangiani, Shalini, Katsanis, Nicholas, Vissers, Lisenka E.L.M., Brunner, Han G., Beaudet, Arthur L., Rosenfeld, Jill A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Xia, Fan, Lalani, Seema R., Lupski, James R., Bongers, Ernie M.H.F., Yang, Yaping
में प्रकाशित Am J Hum Genet (2015)