Search Results - Bongers, Ernie M.H.F.
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1
Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome by Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G., Bongers, Ernie M. H. F., O'Driscoll, Mark, Jeggo, Penny A.
Published 2013Text -
2
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA by Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M. H. F., Lugtenberg, Dorien, Klaren, Peter. H. M., Vissers, Lisenka E. L. M., Roepman, Ronald, Oud, Machteld M.
Published 2021Text -
3
In Vivo Expression of Putative LMX1B Targets in Nail-Patella Syndrome Kidneys by 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
Published 2003Text -
4
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis by 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.
Published 2018Text -
5
A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations by 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
Published 2017Text -
6
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency by 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.
Published 2021Text -
7
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Published 2022Text -
8
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome by 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
Published 2004Text -
9
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway by 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
Published 2011Text -
10
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension by 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
Published 2013Text -
11
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome by 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.
Published 2012Text -
12
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis by 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
Published 2009Text -
13
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis by 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
Published 2009Text -
14
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita by 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.
Published 2012Text -
15
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma by 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.
Published 2017Text -
16
Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome by 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.
Published 2011Text -
17
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm by 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.
Published 2012Text -
18
CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies by 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.
Published 2021Text -
19
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy 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.
Published 2018Text -
20
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA by Viering, Daan, Schlingmann, Karl P., Hureaux, Marguerite, Nijenhuis, Tom, Mallett, Andrew, Chan, Melanie M.Y., van Beek, André, van Eerde, Albertien M., Coulibaly, Jean-Marie, Vallet, Marion, Decramer, Stéphane, Pelletier, Solenne, Klaus, Günter, Kömhoff, Martin, Beetz, Rolf, Patel, Chirag, Shenoy, Mohan, Steenbergen, Eric J., Anderson, Glenn, Bongers, Ernie M.H.F., Bergmann, Carsten, Panneman, Daan, Rodenburg, Richard J., Kleta, Robert, Houillier, Pascal, Konrad, Martin, Vargas-Poussou, Rosa, Knoers, Nine V.A.M., Bockenhauer, Detlef, de Baaij, Jeroen H.F.
Published 2022Text