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Items: 1 to 50 of 251

1.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2019 Jul 1. pii: ASN.2018101054. doi: 10.1681/ASN.2018101054. [Epub ahead of print]

PMID:
31263063
2.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.

de Lange IM, Weuring W, van 't Slot R, Gunning B, Sonsma ACM, McCormack M, de Kovel C, van Gemert LJJM, Mulder F, van Kempen MJA, Knoers NVAM, Brilstra EH, Koeleman BPC.

Mol Genet Genomic Med. 2019 Jul;7(7):e00727. doi: 10.1002/mgg3.727. Epub 2019 May 29.

3.

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.

Snoek R, Nguyen TQ, van der Zwaag B, van Zuilen AD, Kruis HME, van Gils-Verrij LA, Goldschmeding R, Knoers NVAM, Rookmaaker MB, van Eerde AM.

Nephron. 2019 May 16:1-8. doi: 10.1159/000499937. [Epub ahead of print]

4.

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.

Terhal PA, Vlaar JM, Middelkamp S, Nievelstein RAJ, Nikkels PGJ, Ross J, Créton M, Bos JW, Voskuil-Kerkhof ESM, Cuppen E, Knoers N, L I van Gassen K.

Eur J Hum Genet. 2019 May 14. doi: 10.1038/s41431-019-0427-0. [Epub ahead of print]

PMID:
31089205
5.

Identification of human D lactate dehydrogenase deficiency.

Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ.

Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6.

6.

A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale.

Voorwinden JS, Plantinga M, Krijnen W, Ausems M, Knoers N, Velthuizen M, Birnie E, Lucassen AM, van Langen IM, Ranchor AV.

Eur J Hum Genet. 2019 May;27(5):681-690. doi: 10.1038/s41431-018-0318-9. Epub 2019 Jan 25.

PMID:
30683928
7.

Outcomes and comorbidities of SCN1A-related seizure disorders.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Sinoo C, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH.

Epilepsy Behav. 2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. Epub 2018 Dec 5.

8.

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

J Med Genet. 2019 Feb;56(2):75-80. doi: 10.1136/jmedgenet-2018-105672. Epub 2018 Oct 27.

PMID:
30368457
9.

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
10.

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.

11.

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.

12.

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM.

J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3.

PMID:
29970488
13.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.

Vrijenhoek T, Middelburg EM, Monroe GR, van Gassen KLI, Geenen JW, Hövels AM, Knoers NV, van Amstel HKP, Frederix GWJ.

Eur J Hum Genet. 2018 Nov;26(11):1566-1571. doi: 10.1038/s41431-018-0203-6. Epub 2018 Jun 29.

PMID:
29959382
14.

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.

15.

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH.

Epilepsia. 2018 Jun;59(6):1154-1165. doi: 10.1111/epi.14191. Epub 2018 May 11.

16.

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM.

J Am Soc Nephrol. 2018 Jun;29(6):1772-1779. doi: 10.1681/ASN.2017111200. Epub 2018 Apr 13.

17.

Cranioectodermal Dysplasia.

Arts H, Knoers N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Sep 12 [updated 2018 Apr 12].

18.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

19.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20.

20.

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.

PMID:
29459093
21.

The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae.

van Rooijen E, van de Hoek G, Logister I, Ajzenberg H, Knoers NVAM, van Eeden F, Voest EE, Schulte-Merker S, Giles RH.

Nephron. 2018;138(4):310-323. doi: 10.1159/000484096. Epub 2018 Jan 17.

22.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.

23.

Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease.

Snoek R, van Eerde AM, Knoers NVAM.

Kidney Int. 2017 Dec;92(6):1325-1327. doi: 10.1016/j.kint.2017.07.009.

PMID:
29153139
24.

Further delineation of the GDF6 related multiple synostoses syndrome.

Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G.

Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12.

PMID:
29130651
25.

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants.

Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Erratum in: Kidney Int. 2017 Dec;92(6):1558.

26.

Male patients affected by mosaic PCDH19 mutations: five new cases.

de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, Brouwer OF, Mancini GMS, Newman HA, Vos YJ, Helbig KL, Peeters-Scholte C, Kriek M, Knoers NV, Lindhout D, Koeleman BPC, van Kempen MJA, Brilstra EH.

Neurogenetics. 2017 Jul;18(3):147-153. doi: 10.1007/s10048-017-0517-5. Epub 2017 Jul 1.

27.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
28.

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D, Vonken EP, van der Smagt JJ, Knoers NV, Koenen SV, van Herwaarden JA, Sieswerda GT.

Am J Med Genet A. 2017 Feb;173(2):519-523. doi: 10.1002/ajmg.a.38033. Epub 2016 Nov 7.

PMID:
28102592
29.

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. No abstract available.

PMID:
28100908
30.

Photosensitivity in Dravet syndrome is under-recognized and related to prognosis.

Verbeek N, Kasteleijn-Nolst Trenité D, Wassenaar M, van Campen J, Sonsma A, Gunning WB, de Weerd A, Knoers N, Spetgens W, Gutter T, Leijten F, Brilstra E.

Clin Neurophysiol. 2017 Feb;128(2):323-330. doi: 10.1016/j.clinph.2016.11.021. Epub 2016 Dec 6.

PMID:
28042998
31.

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R.

Kidney Int. 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046.

32.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study, Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
33.

Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling.

van Eerde AM, Krediet CT, Rookmaaker MB, van Reekum FE, Knoers NV, Lely AT.

Kidney Int. 2016 Oct;90(4):905-6. doi: 10.1016/j.kint.2016.05.035. No abstract available.

PMID:
27633871
34.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17.

35.

Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child.

Cornelis C, Tibben A, Dondorp W, van Haelst M, Bredenoord AL, Knoers N, Düwell M, Bolt I, van Summeren M.

Eur J Hum Genet. 2016 Dec;24(12):1681-1687. doi: 10.1038/ejhg.2016.100. Epub 2016 Jul 27.

36.

Phenotypic familial aggregation in chronic chilblains.

Souwer IH, Smaal D, Bor JH, Knoers N, Lagro-Janssen AL.

Fam Pract. 2016 Oct;33(5):461-5. doi: 10.1093/fampra/cmw052. Epub 2016 Jul 6.

PMID:
27382984
37.

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
38.

Nephronophthisis.

Stokman M, Lilien M, Knoers N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Jun 23.

39.

MAGE-D2 and the Regulation of Renal Salt Transporters.

Knoers NV, Bindels RJ.

N Engl J Med. 2016 May 12;374(19):1888-90. doi: 10.1056/NEJMe1603856. Epub 2016 Apr 27. No abstract available.

PMID:
27168439
40.

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
41.

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
42.

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.

Lo-A-Njoe S, van der Veken LT, Vermont C, Rafael-Croes L, Keizer V, Hochstenbach R, Knoers N, van Haelst MM.

Case Rep Genet. 2016;2016:2861653. doi: 10.1155/2016/2861653. Epub 2016 Jan 31.

43.

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
44.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G.

Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4.

PMID:
26845106
45.

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.

46.

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

Slaats GG, Wheway G, Foletto V, Szymanska K, van Balkom BW, Logister I, Den Ouden K, Keijzer-Veen MG, Lilien MR, Knoers NV, Johnson CA, Giles RH.

J Cell Sci. 2015 Dec 15;128(24):4550-9. doi: 10.1242/jcs.176065. Epub 2015 Nov 6.

47.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

48.

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
49.

Meier-Gorlin syndrome.

de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Orphanet J Rare Dis. 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. Review.

50.

Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.

van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, Hoenderop JG, Vargas Poussou R, de Baaij JH.

Am J Nephrol. 2015;42(1):85-90. Review.

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