Publications by authors named "Nine Knoers"

97Publications

Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary.

Eur J Hum Genet 2020 Sep 27;28(9):1187-1195. Epub 2020 Apr 27.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0629-5DOI Listing
September 2020

Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.

Clin J Am Soc Nephrol 2020 Apr 20. Epub 2020 Apr 20.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands

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http://dx.doi.org/10.2215/CJN.14661119DOI Listing
April 2020

Three-dimensional facial morphology in Cantú syndrome.

Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184PMC
May 2020

Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination.

Nephron 2020 24;144(4):185-189. Epub 2020 Feb 24.

Department of Obstetrics, Birth Centre Wilhelmina Children's Hospital, University Medical Center Utrecht, Division Women and Baby, Utrecht University, Utrecht, The Netherlands,

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http://dx.doi.org/10.1159/000505781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212694PMC
February 2020

Modifier genes in SCN1A-related epilepsy syndromes.

Mol Genet Genomic Med 2020 04 7;8(4):e1103. Epub 2020 Feb 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.1103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196470PMC
April 2020

Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.

Front Genet 2019 13;10:1264. Epub 2019 Dec 13.

Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.3389/fgene.2019.01264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923268PMC
December 2019

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31753DOI Listing
December 2019

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

Kidney Int 2019 08;96(2):267-269

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.kint.2019.03.017DOI Listing
August 2019

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

Nephron 2019 16;142(4):351-358. Epub 2019 May 16.

Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands,

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http://dx.doi.org/10.1159/000499937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727320PMC
September 2020

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

Eur J Hum Genet 2019 May 25;27(5):681-690. Epub 2019 Jan 25.

Department of Health Psychology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0318-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461966PMC
May 2019

Outcomes and comorbidities of SCN1A-related seizure disorders.

Epilepsy Behav 2019 01 5;90:252-259. Epub 2018 Dec 5.

Department of Genetics, University Medical Center Utrecht, Utrecht University, the Netherlands.

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http://dx.doi.org/10.1016/j.yebeh.2018.09.041DOI Listing
January 2019

Impact of next generation sequencing on our understanding of CAKUT.

Semin Cell Dev Biol 2019 07 5;91:104-110. Epub 2018 Sep 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, P.O.Box 85060, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.semcdb.2018.08.013DOI Listing
July 2019

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

J Proteomics 2019 02 30;192:27-36. Epub 2018 Jul 30.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2018.07.008DOI Listing
February 2019

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

Front Pediatr 2018 7;6:131. Epub 2018 May 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

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http://dx.doi.org/10.3389/fped.2018.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949343PMC
May 2018

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

Kidney Int 2017 12;92(6):1325-1327

Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; Center for Molecular Medicine, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.07.009DOI Listing
December 2017

Further delineation of the GDF6 related multiple synostoses syndrome.

Am J Med Genet A 2018 01 12;176(1):225-229. Epub 2017 Nov 12.

Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38503DOI Listing
January 2018

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

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

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

Am J Med Genet A 2017 Feb 7;173(2):519-523. Epub 2016 Nov 7.

Department of Cardiology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38033DOI Listing
February 2017

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

Nat Rev Nephrol 2017 01;13(2):67-68

Department of Genetics, Center for Molecular Medicine, KC04.084.2, University Medical Center Utrecht, PO BOX: 85090 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nrneph.2016.192DOI Listing
January 2017

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

Clin Neurophysiol 2017 02 6;128(2):323-330. Epub 2016 Dec 6.

Department of Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.clinph.2016.11.021DOI Listing
February 2017

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

Kidney Int 2017 01;91(1):24-33

Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

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http://dx.doi.org/10.1016/j.kint.2016.09.046DOI Listing
January 2017

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

Kidney Int 2016 10;90(4):905-6

Department of Obstetrics, Wilhelmina Children's Hospital Birth Center, University Medical Center, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.kint.2016.05.035DOI Listing
October 2016

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

Eur J Hum Genet 2016 12 27;24(12):1681-1687. Epub 2016 Jul 27.

Department of General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117911PMC
December 2016

Phenotypic familial aggregation in chronic chilblains.

Fam Pract 2016 10 6;33(5):461-5. Epub 2016 Jul 6.

Department of Primary and Community Care, Unit Sex and Women's Health, Radboud University Medical Center, Internal Post Code 118, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/fampra/cmw052DOI Listing
October 2016

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

Nat Rev Nephrol 2016 08 4;12(8):472-83. Epub 2016 Jul 4.

Department of Genetics, Center for Molecular Medicine, KC04.084.2, University Medical Center Utrecht, PO BOX: 85090 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nrneph.2016.87DOI Listing
August 2016

MAGE-D2 and the Regulation of Renal Salt Transporters.

N Engl J Med 2016 May 27;374(19):1888-90. Epub 2016 Apr 27.

From the Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht (N.V.A.M.K.), and the Department of Physiology and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen (R.J.B.) - both in the Netherlands.

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http://dx.doi.org/10.1056/NEJMe1603856DOI Listing
May 2016

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

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

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/bdra.23500DOI Listing
July 2016

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0322-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

Genetic, environmental, and epigenetic factors involved in CAKUT.

Nat Rev Nephrol 2015 Dec 18;11(12):720-31. Epub 2015 Aug 18.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, PO Box 85090, 3508 AB, Utrecht, Netherlands.

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http://dx.doi.org/10.1038/nrneph.2015.140DOI Listing
December 2015

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Neurology 2015 Aug 22;85(7):596-603. Epub 2015 Jul 22.

From the Department of Medical Genetics (N.E.V., A.C.M.S., E.I., M.v.K., C.G.F.d.K., B.P.C.K., N.V.K., D.L., E.H.B.) and Department of Child Neurology, Brain Center Rudolf Magnus (F.E.J., K.P.B.), University Medical Center Utrecht; Centre for Infectious Disease Control (N.A.T.v.d.M., P.E.V.-d.B., J.M.K.), National Institute for Public Health and Environment-RIVM, Bilthoven; Stichting Epilepsie Instellingen Nederland (E.H., W.B.G.), Zwolle; Stichting Epilepsie Instellingen Nederland (H.H.G., P.B.A.), Heemstede; Epilepsy Center Kempenhaeghe (A.d.L.), Heeze; Department of Child Neurology (R.F.N.), Erasmus Medical Centre, Rotterdam; Department of Child Neurology (J.H.S.), Radboud Medical Centre, Nijmegen; Department of Neurology (H.S.), Canisius-Wilhelmina Hospital, Nijmegen; Department of Child Neurology (R.J.V.), VU Medical Centre, Amsterdam; Department of Child Neurology (J.N.), Maastricht University Medical Centre; and Department of Neurology (O.F.B.), University of Groningen, University Medical Centre of Groningen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001855DOI Listing
August 2015

Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?

Epilepsy Behav 2015 Jun 26;47:39-44. Epub 2015 May 26.

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.05.008DOI Listing
June 2015

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

Am J Kidney Dis 2015 May;65(5):644-6

University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1053/j.ajkd.2015.02.320DOI Listing
May 2015

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 2015 Jun 11;30(6):952-7. Epub 2015 Mar 11.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfv014DOI Listing
June 2015

Postmortem disclosure of genetic information to family members: active or passive?

Trends Mol Med 2015 Mar;21(3):148-53

Department of Medical Humanities, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Str 6.131, PO Box 85500, 3508 GA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.molmed.2015.01.002DOI Listing
March 2015

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

Nat Rev Nephrol 2014 Aug 10;10(8):433-44. Epub 2014 Jun 10.

Department of Medical Genetics, University Medical Center Utrecht, KC04.048.02, PO Box 85090, Utrecht, 3508 AB, Netherlands.

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http://dx.doi.org/10.1038/nrneph.2014.95DOI Listing
August 2014

Rare inherited kidney diseases: challenges, opportunities, and perspectives.

Lancet 2014 May;383(9931):1844-59

Pediatric Nephrology Division, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1016/S0140-6736(14)60659-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135047PMC
May 2014

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.

Am J Clin Nutr 2014 Aug 7;100(2):587-92. Epub 2014 May 7.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).

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http://dx.doi.org/10.3945/ajcn.113.082008DOI Listing
August 2014

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

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.

Blood 2014 Jun 24;123(25):3873-86; quiz 4005. Epub 2014 Mar 24.

Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands;

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http://dx.doi.org/10.1182/blood-2014-01-548776DOI Listing
June 2014

Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome.

Kidney Int 2014 Jun 15;85(6):1444-53. Epub 2014 Jan 15.

Division of Nephrology, Department of Pediatrics, Erasmus MC University Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ki.2013.531DOI Listing
June 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Factors determining uptake of invasive testing following first-trimester combined testing.

Prenat Diagn 2013 Apr 18;33(4):328-33. Epub 2013 Feb 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1002/pd.4067
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http://dx.doi.org/10.1002/pd.4067DOI Listing
April 2013

Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study.

BJU Int 2013 Jul 10;112(1):121-8. Epub 2013 Jan 10.

Departments of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, Nijmegen.

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http://dx.doi.org/10.1111/j.1464-410X.2012.11745.xDOI Listing
July 2013

Current insights into renal ciliopathies: what can genetics teach us?

Pediatr Nephrol 2013 Jun 25;28(6):863-74. Epub 2012 Jul 25.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00467-012-2259-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631122PMC
June 2013

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Pediatr Nephrol 2012 Dec 17;27(12):2183-204. Epub 2012 Mar 17.

Nijmegen Centre for Molecular Life Sciences Graduate School, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://link.springer.com/content/pdf/10.1007%2Fs00467-012-21
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http://link.springer.com/10.1007/s00467-012-2118-8
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http://dx.doi.org/10.1007/s00467-012-2118-8DOI Listing
December 2012

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Eur J Hum Genet 2012 Mar 19;20(3):263-70. Epub 2011 Oct 19.

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283182PMC
March 2012