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Items: 32

1.

The genomic landscape of CAKUT; you gain some, you lose some.

Knoers NVAM, Renkema KY.

Kidney Int. 2019 Aug;96(2):267-269. doi: 10.1016/j.kint.2019.03.017. No abstract available.

PMID:
31331462
2.

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Renkema KY, Westermann JM, Nievelstein RAJ, Lo-A-Njoe SM, van der Zwaag B, Manshande ME, van Haelst MM.

Hypertens Res. 2018 Nov;41(11):981-988. doi: 10.1038/s41440-018-0094-5. Epub 2018 Sep 12.

PMID:
30209282
3.

Impact of next generation sequencing on our understanding of CAKUT.

Nigam A, Knoers NVAM, Renkema KY.

Semin Cell Dev Biol. 2019 Jul;91:104-110. doi: 10.1016/j.semcdb.2018.08.013. Epub 2018 Sep 5. Review.

PMID:
30172048
4.

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

Stokman MF, Bijnsdorp IV, Schelfhorst T, Pham TV, Piersma SR, Knol JC, Giles RH, Bongers EMHF, Knoers NVAM, Lilien MR, Jiménez CR, Renkema KY.

J Proteomics. 2019 Feb 10;192:27-36. doi: 10.1016/j.jprot.2018.07.008. Epub 2018 Jul 30.

5.

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

Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR.

Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7. Epub 2018 Jul 5.

6.

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Renkema KY, Giles RH, Lilien MR, Beales PL, Roepman R, Oud MM, Arts HH, Knoers NVAM.

Front Pediatr. 2018 May 7;6:131. doi: 10.3389/fped.2018.00131. eCollection 2018.

7.

Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).

Neirijnck Y, Reginensi A, Renkema KY, Massa F, Kozlov VM, Dhib H, Bongers EMHF, Feitz WF, van Eerde AM, Lefebvre V, Knoers NVAM, Tabatabaei M, Schulz H, McNeill H, Schaefer F, Wegner M, Sock E, Schedl A.

Kidney Int. 2018 May;93(5):1142-1153. doi: 10.1016/j.kint.2017.11.026. Epub 2018 Feb 17.

8.

Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics.

Renkema KY, Knoers NV.

Nat Rev Nephrol. 2017 Jan 19;13(2):67-68. doi: 10.1038/nrneph.2016.192. Review. No abstract available.

PMID:
28100908
9.

The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM.

Nat Rev Nephrol. 2016 Aug;12(8):472-83. doi: 10.1038/nrneph.2016.87. Epub 2016 Jul 4. Review.

PMID:
27374918
10.

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

van Rooij IA, van der Zanden LF, Bongers EM, Renkema KY, Wijers CH, Thonissen M, Dokter EM, Marcelis CL, de Blaauw I, Wijnen MH, Hoogerbrugge PM, Bokkerink JP, Schreuder MF, Koster-Kamphuis L, Cornelissen EA, Kapusta L, van Heijst AF, Liem KD, de Gier RP, Kuijpers-Jagtman AM, Admiraal RJ, Bergé SJ, van der Biezen JJ, Verdonck A, Vander Poorten V, Hens G, Roosenboom J, Lilien MR, de Jong TP, Broens P, Wijnen R, Brooks A, Franke B, Brunner HG, Carels CE, Knoers NV, Feitz WF, Roeleveld N.

Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):675-84. doi: 10.1002/bdra.23512. Epub 2016 May 6.

PMID:
27150573
11.

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

Groen In 't Woud S, Renkema KY, Schreuder MF, Wijers CH, van der Zanden LF, Knoers NV, Feitz WF, Bongers EM, Roeleveld N, van Rooij IA.

Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):596-603. doi: 10.1002/bdra.23500. Epub 2016 Apr 4.

PMID:
27040999
12.

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM.

Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19.

PMID:
26892345
13.

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.

Pietilä I, Prunskaite-Hyyryläinen R, Kaisto S, Tika E, van Eerde AM, Salo AM, Garma L, Miinalainen I, Feitz WF, Bongers EM, Juffer A, Knoers NV, Renkema KY, Myllyharju J, Vainio SJ.

PLoS One. 2016 Jan 21;11(1):e0147171. doi: 10.1371/journal.pone.0147171. eCollection 2016.

14.

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY.

Kidney Int. 2016 Feb;89(2):476-86.

PMID:
26489027
15.

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV.

Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Epub 2015 Aug 18. Review.

PMID:
26281895
16.

Non-invasive sources of cells with primary cilia from pediatric and adult patients.

Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH.

Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015.

17.

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F.

Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31.

18.

Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

Renkema KY, Verhaar MC, Knoers NV.

Am J Kidney Dis. 2015 May;65(5):644-6. doi: 10.1053/j.ajkd.2015.02.320. No abstract available.

PMID:
25919497
19.

Functional models for congenital anomalies of the kidney and urinary tract.

van de Hoek G, Nicolaou N, Giles RH, Knoers NV, Renkema KY, Bongers EM.

Nephron. 2015;129(1):62-7. doi: 10.1159/000369313. Epub 2014 Dec 19. Review.

20.

Next-generation sequencing for research and diagnostics in kidney disease.

Renkema KY, Stokman MF, Giles RH, Knoers NV.

Nat Rev Nephrol. 2014 Aug;10(8):433-44. doi: 10.1038/nrneph.2014.95. Epub 2014 Jun 10. Review.

PMID:
24914583
21.

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, van Eerde AM, Pfundt R, Terhal PA, van der Zwaag B, Nikkels PG, Sachs N, Goldschmeding R, Knoers NV, Renkema KY, Sonnenberg A.

J Clin Invest. 2012 Dec;122(12):4375-87. doi: 10.1172/JCI64100. Epub 2012 Nov 1.

22.

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.

van Eerde AM, Duran K, van Riel E, de Kovel CG, Koeleman BP, Knoers NV, Renkema KY, van der Horst HJ, Bökenkamp A, van Hagen JM, van den Berg LH, Wolffenbuttel KP, van den Hoek J, Feitz WF, de Jong TP, Giltay JC, Wijmenga C.

PLoS One. 2012;7(4):e31327. doi: 10.1371/journal.pone.0031327. Epub 2012 Apr 27.

23.

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).

Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM; EUCAKUT consortium.

Nephrol Dial Transplant. 2011 Dec;26(12):3843-51. doi: 10.1093/ndt/gfr655. Review.

PMID:
22121240
24.

Role of the calcium-sensing receptor in reducing the risk for calcium stones.

Renkema KY, Bindels RJ, Hoenderop JG.

Clin J Am Soc Nephrol. 2011 Aug;6(8):2076-82. doi: 10.2215/CJN.00480111. Epub 2011 Jul 22. Review.

25.

Association between maternal diabetes and renal malformations in the offspring: more than environmental factors.

Schreuder MF, Renkema KY.

Birth Defects Res A Clin Mol Teratol. 2011 Feb;91(2):125. doi: 10.1002/bdra.20765. Epub 2011 Jan 20. No abstract available.

PMID:
21254367
26.

Common variants in DGKK are strongly associated with risk of hypospadias.

van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X, Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV.

Nat Genet. 2011 Jan;43(1):48-50. doi: 10.1038/ng.721. Epub 2010 Nov 28. Erratum in: Nat Genet. 2011 Mar;43(3):277.

PMID:
21113153
27.

The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis.

Renkema KY, Velic A, Dijkman HB, Verkaart S, van der Kemp AW, Nowik M, Timmermans K, Doucet A, Wagner CA, Bindels RJ, Hoenderop JG.

J Am Soc Nephrol. 2009 Aug;20(8):1705-13. doi: 10.1681/ASN.2008111195. Epub 2009 May 21.

28.

TRPV5 gene polymorphisms in renal hypercalciuria.

Renkema KY, Lee K, Topala CN, Goossens M, Houillier P, Bindels RJ, Hoenderop JG.

Nephrol Dial Transplant. 2009 Jun;24(6):1919-24. doi: 10.1093/ndt/gfn735. Epub 2009 Jan 8.

PMID:
19131347
29.

Calcium and phosphate homeostasis: concerted interplay of new regulators.

Renkema KY, Alexander RT, Bindels RJ, Hoenderop JG.

Ann Med. 2008;40(2):82-91. doi: 10.1080/07853890701689645. Review.

PMID:
18293139
30.

Acid-base status determines the renal expression of Ca2+ and Mg2+ transport proteins.

Nijenhuis T, Renkema KY, Hoenderop JG, Bindels RJ.

J Am Soc Nephrol. 2006 Mar;17(3):617-26. Epub 2006 Jan 18.

31.

Hypervitaminosis D mediates compensatory Ca2+ hyperabsorption in TRPV5 knockout mice.

Renkema KY, Nijenhuis T, van der Eerden BC, van der Kemp AW, Weinans H, van Leeuwen JP, Bindels RJ, Hoenderop JG.

J Am Soc Nephrol. 2005 Nov;16(11):3188-95. Epub 2005 Sep 7.

32.

No evidence of the involvement of the Fas -670 promoter polymorphism in cervical cancer in situ.

Engelmark MT, Renkema KY, Gyllensten UB.

Int J Cancer. 2004 Dec 20;112(6):1084-5. No abstract available.

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