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Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.
Published in:
2001
By:
- van den Elzen, Annet P. M.;
- Semmekrot, Ben A.;
- Bongers, Ernie M. H. F.;
- Huygen, Patrick L. M.;
- Marres, Henri A. M.;
- van den Elzen, A P;
- Semmekrot, B A;
- Bongers, E M;
- Huygen, P L;
- Marres, H A
Publication type:
journal article
Meier-Gorlin syndrome.
Published in:
2015
By:
- 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.;
- Knoers, Nine Vam;
- Bongers, Ernie Mhf
Publication type:
journal article
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2098
By:
- van de Beek, Irma;
- Glykofridis, Iris E.;
- Wagner, Anja;
- den Toom, Dorine T.;
- Bongers, Ernie M. H. F.;
- van Leenders, Geert J. L. H.;
- Johannesma, Paul C.;
- Meijers‐Heijboer, Hanne E. J.;
- Wolthuis, Rob M. F.;
- van Steensel, Maurice A. M.;
- Dubbink, Hendrikus J.;
- Houweling, Arjan C.
Publication type:
Article
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501
By:
- Oud, Machteld M.;
- van Bon, Bregje W.;
- Bongers, Ernie M. H. F.;
- Hoischen, Alexander;
- Marcelis, Carlo L.;
- de Leeuw, Nicole;
- Mol, Suzanne J. J.;
- Mortier, Geert;
- Knoers, Nine V. A. M.;
- Brunner, Han G.;
- Roepman, Ronald;
- Arts, Heleen H.
Publication type:
Article
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 922, doi. 10.1038/ng.2349
By:
- Lindsay, Mark E;
- Schepers, Dorien;
- Bolar, Nikhita Ajit;
- Doyle, Jefferson J;
- Gallo, Elena;
- Fert-Bober, Justyna;
- Kempers, Marlies J E;
- Fishman, Elliot K;
- Chen, Yichun;
- Myers, Loretha;
- Bjeda, Djahita;
- Oswald, Gretchen;
- Elias, Abdallah F;
- Levy, Howard P;
- Anderlid, Britt-Marie;
- Yang, Margaret H;
- Bongers, Ernie M H F;
- Timmermans, Janneke;
- Braverman, Alan C;
- Canham, Natalie
Publication type:
Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
By:
- Koolen, David A;
- Kramer, Jamie M;
- Neveling, Kornelia;
- Nillesen, Willy M;
- Moore-Barton, Heather L;
- Elmslie, Frances V;
- Toutain, Annick;
- Amiel, Jeanne;
- Malan, Valérie;
- Tsai, Anne Chun-Hui;
- Cheung, Sau Wai;
- Gilissen, Christian;
- Verwiel, Eugene T P;
- Martens, Sarah;
- Feuth, Ton;
- Bongers, Ernie M H F;
- de Vries, Petra;
- Scheffer, Hans;
- Vissers, Lisenka E L M;
- de Brouwer, Arjan P M
Publication type:
Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
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.
Publication type:
Article
Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias.
Published in:
2011
By:
- van der Zanden, Loes F M;
- van Rooij, Iris A L M;
- Feitz, Wout F J;
- Knight, Jo;
- Donders, A Rogier T;
- Renkema, Kirsten Y;
- Bongers, Ernie M H F;
- Vermeulen, Sita H H M;
- Kiemeney, Lambertus A L M;
- Veltman, Joris A;
- Arias-Vásquez, Alejandro;
- Zhang, Xufeng;
- Markljung, Ellen;
- Qiao, Liang;
- Baskin, Laurence S;
- Nordenskjöld, Agneta;
- Roeleveld, Nel;
- Franke, Barbara;
- Knoers, Nine V A M
Publication type:
Correction Notice
Common variants in DGKK are strongly associated with risk of hypospadias.
Published in:
Nature Genetics, 2011, v. 43, n. 1, p. 48, doi. 10.1038/ng.721
By:
- van der Zanden, Loes F. M.;
- van Rooij, Iris A. L. M.;
- Feitz, Wout F. J.;
- Knight, Jo;
- Donders, A Rogier T.;
- Renkema, Kirsten Y.;
- Bongers, Ernie M. H. F.;
- Vermeulen, Sita H. H. M.;
- Kiemeney, Lambertus A. L. M.;
- Veltman, Joris A.;
- Arias-Vásquez, Alejandro;
- Xufeng Zhang;
- Markljung, Ellen;
- Liang Qiao;
- Baskin, Laurence S.;
- Nordenskjöld, Agneta;
- Roeleveld, Nel;
- Franke, Barbara;
- Knoers, Nine V. A. M.
Publication type:
Article
Early Development of Hyperparathyroidism Due to Loss of PTH Transcriptional Repression in Patients With HNF1[beta] Mutations?
Published in:
2013
By:
- Ferrè, Silvia;
- Bongers, Ernie M H F;
- Sonneveld, Ramon;
- Cornelissen, Elisabeth A M;
- van der Vlag, Johan;
- van Boekel, Gerben A J;
- Wetzels, Jack F M;
- Hoenderop, Joost G J;
- Bindels, René J M;
- Nijenhuis, Tom
Publication type:
Journal Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
By:
- Dingemans, Alexander J. M.;
- Truijen, Kim M. G.;
- van de Ven, Sam;
- Bernier, Raphael;
- Bongers, Ernie M. H. F.;
- Bouman, Arjan;
- de Graaff – Herder, Laura;
- Eichler, Evan E.;
- Gerkes, Erica H.;
- De Geus, Christa M.;
- van Hagen, Johanna M.;
- Jansen, Philip R.;
- Kerkhof, Jennifer;
- Kievit, Anneke J. A.;
- Kleefstra, Tjitske;
- Maas, Saskia M.;
- de Man, Stella A.;
- McConkey, Haley;
- Patterson, Wesley G.;
- Dobson, Amy T.
Publication type:
Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
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
Publication type:
Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
2009
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
Publication type:
Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
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
Publication type:
Article
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83
By:
- Bongers, Ernie M. H. F.;
- de Wijs, Ilse J.;
- Marcelis, Carlo;
- Hoefsloot, Lies H.;
- Knoers, Nine V. A. M.
Publication type:
Article
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
By:
- Koolen, David A.;
- Reardon, William;
- Rosser, Elisabeth M.;
- Lacombe, Didier;
- Hurst, Jane A.;
- Law, Caroline J.;
- Bongers, Ernie M. H. F.;
- van Ravenswaaij-Arts, Conny M.;
- Leisink, Martijn A. R;
- van Kessel, Ad Geurts;
- Veltman, Joris A.;
- de Vries, Bert B. A
Publication type:
Article
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446
By:
- Bongers, Ernie M. H. F.;
- Huysmans, Frans T.;
- Levtchenko, Elena;
- de Rooy, Jacky W.;
- Blickman, Johan G.;
- Admiraal, Ronald J. C.;
- Huygen, Patrick L. M.;
- Cruysberg, Johannes R. M.;
- Toolens, Pauline A. M. P.;
- Prins, Judith B.;
- Krabbe, Paul F. M.;
- Borm, George F.;
- Schoots, Jeroen;
- van Bokhoven, Hans;
- van Remortele, Angela M. F.;
- Hoefsloot, Lies H.;
- van Kampen, Albert;
- Knoers, Nine V. A. M.
Publication type:
Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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.
Publication type:
Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
By:
- Wei Ba;
- 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.;
- Kasri, Nael Nadif;
- De Vries, Bert B. A.
Publication type:
Article
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 Patterning.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147171
By:
- 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.
Publication type:
Article
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes--Challenges for the Accurate Diagnosis.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.931822
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.
Publication type:
Article
Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome.
Published in:
PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003360
By:
- Stiff, Tom;
- Alagoz, Meryem;
- Alcantara, Diana;
- Outwin, Emily;
- Brunner, Han G.;
- Bongers, Ernie M. H. F.;
- O'Driscoll, Mark;
- Jeggo, Penny A.
Publication type:
Article
Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia.
Published in:
2006
By:
- Koëter, Sander;
- Bongers, Ernie;
- Rooij, Jacky;
- Kampen, Albert;
- Koëter, Sander;
- Bongers, Ernie M H F;
- de Rooij, Jacky;
- van Kampen, Albert
Publication type:
journal article

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