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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Author / Creator: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 ; Mortier, Geert R ; Brunner, Han G ; Byers, Peter H ; Van Eyk, Jennifer ; Van Laer, Lut ; Dietz, Harry C ; Loeys, Bart L
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-08, Vol.44 (8), p.922-927
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Author / Creator: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 ; Brunner, Han G ; Veltman, Joris A ; Schenck, Annette ; Yntema, Helger G ; de Vries, Bert B A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.639-641
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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1677-1689
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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome
Author / Creator:Stiff, Tom ; Alagoz, Meryem ; Alcantara, Diana ; Outwin, Emily ; Brunner, Han G ; Bongers, Ernie M H F ; O'Driscoll, Mark ; Jeggo, Penny A
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-03, Vol.9 (3), p.e1003360-e1003360
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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
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-01, Vol.11 (1), p.e0147171-e0147171
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Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Cilia (London), 2018-02, Vol.7 (1), p.1-1, Article 1
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Author / Creator:Lelieveld, Stefan H ; Reijnders, Margot R F ; Pfundt, Rolph ; Yntema, Helger G ; Kamsteeg, Erik-Jan ; de Vries, Petra ; de Vries, Bert B A ; Willemsen, Marjolein H ; Kleefstra, Tjitske ; Löhner, Katharina ; Vreeburg, Maaike ; Stevens, Servi J C ; van der Burgt, Ineke ; Bongers, Ernie M H F ; Stegmann, Alexander P A ; Rump, Patrick ; Rinne, Tuula ; Nelen, Marcel R ; Veltman, Joris A ; Vissers, Lisenka E L M ; Brunner, Han G ; Gilissen, Christian
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2016-09, Vol.19 (9), p.1194-1196
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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension
Author / Creator: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
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-08, Vol.50 (8), p.500-506
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1110-1120
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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Author / Creator:Schulz, Yvonne ; Wehner, Peter ; Opitz, Lennart ; Salinas-Riester, Gabriela ; Bongers, Ernie M. H. F. ; van Ravenswaaij-Arts, Conny M. A. ; Wincent, Josephine ; Schoumans, Jacqueline ; Kohlhase, Jürgen ; Borchers, Annette ; Pauli, Silke
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-08, Vol.133 (8), p.997-1009
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Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-04, Vol.43 (4), p.356-359
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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
Author / Creator: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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2018-10, Vol.33 (10), p.1701-1712
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Common variants in DGKK are strongly associated with risk of hypospadias
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-01, Vol.43 (1), p.48-50
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Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
Author / Creator:Beek, Irma ; Glykofridis, Iris E. ; Wagner, Anja ; Toom, Dorine T. ; Bongers, Ernie M. H. F. ; Leenders, Geert J. L. H. ; Johannesma, Paul C. ; Meijers‐Heijboer, Hanne E. J. ; Wolthuis, Rob M. F. ; Steensel, Maurice A. M. ; Dubbink, Hendrikus J. ; Houweling, Arjan C.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-02, Vol.11 (2), p.e2098-n/a
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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
Author / Creator: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
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.138-144
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Genetic, environmental, and epigenetic factors involved in CAKUT
Author / Creator:Nicolaou, Nayia ; Renkema, Kirsten Y. ; Bongers, Ernie M. H. F. ; Giles, Rachel H. ; Knoers, Nine V. A. M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Nephrology, 2015-12, Vol.11 (12), p.720-731
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Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia
Author / Creator:Koëter, Sander ; Bongers, Ernie M H F ; de Rooij, Jacky ; van Kampen, Albert
Publisher:Germany: Springer Nature B.V
Journal title:Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2006-08, Vol.14 (8), p.713-717
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Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
Author / Creator: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
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.935-946
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Meier-Gorlin syndrome
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.114-114, Article 114
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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Author / Creator: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
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323
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Showing 1 to 20 of 41 results

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

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

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Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

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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

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

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

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

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

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

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

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Common variants in DGKK are strongly associated with risk of hypospadias

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Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

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

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Genetic, environmental, and epigenetic factors involved in CAKUT

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Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia

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Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

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Meier-Gorlin syndrome

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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