Ernie M. H. F. Bongers: search on Z-Library

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1

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study

Groen in 't Woud, Sander, Renkema, Kirsten Y., Schreuder, Michiel F., Wijers, Charlotte H.W., van der Zanden, Loes F.M., Knoers, Nine V.A.M., Feitz, Wout F.J., Bongers, Ernie M.H.F., Roeleveld, Nel, v

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 173 KB

english, 2016

2

Early Development of Hyperparathyroidism Due to Loss of PTH Transcriptional Repression in Patients With HNF1β Mutations?

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.,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

3

AGORA, a data- and biobank for birth defects and childhood cancer

van Rooij, Iris A.L.M., van der Zanden, Loes F.M., Bongers, Ernie M.H.F., Renkema, Kirsten Y., Wijers, Charlotte H.W., Thonissen, Michelle, Dokter, Elisabeth M.J., Marcelis, Carlo L.M., de Blaauw, Ivo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 115 KB

english, 2016

4

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

Bongers, Ernie M H F, de Wijs, Ilse J, Marcelis, Carlo, Hoefsloot, Lies H, Knoers, Nine V A M

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

5

Common variants in DGKK are strongly associated with risk of hypospadias

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,

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 431 KB

english, 2010

6

Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias

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,

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 69 KB

english, 2011

7

Meier-Gorlin syndrome

de Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine VAM, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie MHF

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 789 KB

english, 2015

8

Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature

Annet P. M. van den Elzen, Ben A. Semmekrot, Ernie M. H. F. Bongers, Patrick L. M. Huygen, Henri A. M. Marres

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

9

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

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

Journal:

The American Journal of Pathology

Year:

2003

Language:

english

File:

PDF, 1.49 MB

english, 2003

10

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

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., Lu

Journal:

Journal of the American Society of Nephrology

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

11

Minimal rotation aberrations cause radiographic misdiagnosis of trochlear dysplasia

Sander Koëter, Ernie M. H. F. Bongers, Jacky de Rooij, Albert van Kampen

Journal:

Knee Surgery, Sports Traumatology, Arthroscopy

Year:

2006

Language:

english

File:

PDF, 237 KB

english, 2006

12

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 VAM, Bongers, Ernie MHF, Brunner, Han G

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 303 KB

english, 2014

13

Nephrotic Syndrome With Mutations in NPHS2: The Role of R229Q and Implications for Genetic Counseling

Rood, Ilse M., Deegens, Jeroen K.J., Lugtenberg, Dorien, Bongers, Ernie M.H.F., Wetzels, Jack F.M.

Journal:

American Journal of Kidney Diseases

Year:

2018

Language:

english

File:

PDF, 262 KB

english, 2018

14

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

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

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 681 KB

english, 2011

15

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

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., Ro

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 841 KB

english, 2014

16

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

Johansson, Stefan, Berland, Siren, Gradek, Gyri Aasland, Bongers, Ernie, de Leeuw, Nicole, Pfundt, Rolph, Fannemel, Madeleine, Rødningen, Olaug, Brendehaug, Atle, Haukanes, Bjørn Ivar, Hovland, Randi,

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.27 MB

english, 2014

17

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 MHF, Feitz, Wout F., van Eerde, Albertien M., Lefebvre, Veronique, Knoers

Journal:

Kidney International

Year:

2018

Language:

english

File:

PDF, 2.97 MB

english, 2018

18

Clonal origin of trisomy for chromosome 7 in the epithelial compartment of colon neoplasia

Jos Herbergs, Jan-Willem Arends, Ernie M.H. F. Bongers, Frans C. S. Ramaekers, Anton H. N. Hopman

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 690 KB

english, 1996

19

Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

van de Hoek, Glenn, Nicolaou, Nayia, Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y., Bongers, Ernie M.H.F.

Journal:

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

20

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

Morava, Eva, Bongers, Ernie M.H.F., Kress, Wolfram, Sie, Lilian, Rodenburg, Richard, Heuvel, Lambert van den, Brunner, Han G.

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

21

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

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 Vrie

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 665 KB

english, 2015

22

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

Ernie M.H.F. Bongers, Hans van Bokhoven, Nine V.A.M. Knoers, Ben C.J. Hamel, C. Geoffrey Woods

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 76 KB

english, 2002

23

Nail-patella syndrome. Overview on clinical and molecular findings

Bongers, Ernie, Gubler, Marie-Claire, Knoers, Nine

Journal:

Pediatric Nephrology

Year:

2002

Language:

english

File:

PDF, 296 KB

english, 2002

24

Genetic, environmental, and epigenetic factors involved in CAKUT

Nicolaou, Nayia, Renkema, Kirsten Y., Bongers, Ernie M. H. F., Giles, Rachel H., Knoers, Nine V. A. M.

Journal:

Nature Reviews Nephrology (formerly Nature Clinical Practice Nephrology)

Year:

2015

Language:

english

File:

PDF, 742 KB

english, 2015

25

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

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, Judi

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 256 KB

english, 2005

26

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Michael B. Bober, Tim Niiler, Angela L. Duker, Jennie E. Murray, Tara Ketterer, Margaret E. Harley, Sabah Alvi, Christina Flora, Cecilie Rustad, Ernie M.H.F. Bongers, Louise S. Bicknell, Carol Wise, A

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 310 KB

english, 2012

27

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

De Rocker, Nina, Vergult, Sarah, Koolen, David, Jacobs, Eva, Hoischen, Alexander, Zeesman, Susan, Bang, Birgitte, Béna, Frédérique, Bockaert, Nele, Bongers, Ernie M., de Ravel, Thomy, Devriendt, Koenr

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.82 MB

english, 2015

28

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

Dorien Lugtenberg, Arjan P.M. de Brouwer, Astrid R. Oudakker, Rolph Pfundt, Ben C.J. Hamel, Hans van Bokhoven, Ernie M.H.F. Bongers

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 352 KB

english, 2009

29

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

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, Marc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

30

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

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, Marc

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

31

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 2.93 MB

english, 2013

32

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.81 MB

english, 2018

33

Meier-Gorlin syndrome: Report of eight additional cases and review

Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer, Pierre Sarda, Raoul C.M. Hennekam, Brian D. Hall, Duane W. Superneau, Madeline Harbison, Alexis Poss, Hans van Bokhoven, Ben C.J. Hamel, Nine V.A.M. Kn

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 477 KB

english, 2001

34

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

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

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 2.40 MB

english, 2004

35

Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail–patella syndrome. KSSTA 2017 Oct;25(10):3012–3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12

Koëter, Sander, Tigchelaar, Siebren, Bongers, Ernie

Journal:

Knee Surgery, Sports Traumatology, Arthroscopy

Year:

2018

Language:

english

File:

PDF, 534 KB

english, 2018

36

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

Marini, Monica, Bongers, Ernie, Cusano, Roberto, Di Duca, Marco, Seri, Marco, Knoers, Nine, Ravazzolo, Roberto

Journal:

International Journal of Molecular Medicine

Year:

2003

Language:

english

File:

PDF, 1.03 MB

english, 2003

37

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

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

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 425 KB

english, 2010

38

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

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 Geurt

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

39

Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies

Stokman, Marijn F., Bijnsdorp, Irene V., Schelfhorst, Tim, Pham, Thang V., Piersma, Sander R., Knol, Jaco C., Giles, Rachel H., Bongers, Ernie M.H.F., Knoers, Nine V.A.M., Lilien, Marc R., Jiménez, Co

Journal:

Journal of Proteomics

Year:

2018

Language:

english

File:

PDF, 2.13 MB

english, 2018

40

Thiazide Responsiveness Testing in Patients With Renal Magnesium Wasting and Correlation With Genetic Analysis: A Diagnostic Test Study

Bech, Anneke P., Wetzels, Jack F., Bongers, Ernie M.H.F., Nijenhuis, Tom

Journal:

American Journal of Kidney Diseases

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

41

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Marjolijn C.J. Jongmans, Eugene T.P. Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

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