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Meier-Gorlin syndrome.
Published in:
2015
By:
- 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.;
- Knoers, Nine Vam;
- Bongers, Ernie Mhf
Publication type:
journal article
Gitelman syndrome.
Published in:
2008
By:
- Knoers NV;
- Levtchenko EN;
- Knoers, Nine V A M;
- Levtchenko, Elena N
Publication type:
journal article
Gitelman syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-22
By:
- Knoers, Nine V. A. M.;
- Levtchenko, Elena N.
Publication type:
Article
update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
Published in:
Nephrology Dialysis Transplantation, 2022, v. 37, n. 5, p. 825, doi. 10.1093/ndt/gfab312
By:
- Müller, Roman-Ulrich;
- Messchendorp, A Lianne;
- Birn, Henrik;
- Capasso, Giovambattista;
- Gall, Emilie Cornec-Le;
- Devuyst, Olivier;
- Eerde, Albertien van;
- Guirchoun, Patrick;
- Harris, Tess;
- Hoorn, Ewout J;
- Knoers, Nine V A M;
- Korst, Uwe;
- Mekahli, Djalila;
- Meur, Yannick Le;
- Nijenhuis, Tom;
- Ong, Albert C M;
- Sayer, John A;
- Schaefer, Franz;
- Servais, Aude;
- Tesar, Vladimir
Publication type:
Article
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Published in:
Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 349, doi. 10.1093/ndt/gfaa363
By:
- Snoek, Rozemarijn;
- Jaarsveld, Richard H van;
- Nguyen, Tri Q;
- Peters, Edith D J;
- Elferink, Martin G;
- Ernst, Robert F;
- Rookmaaker, Maarten B;
- Lilien, Marc R;
- Spierings, Eric;
- Goldschmeding, Roel;
- Knoers, Nine V A M;
- van der Zwaag, Bert;
- Zuilen, Arjan D van;
- Eerde, Albertien M van
Publication type:
Article
Modifier genes in SCN1A‐related epilepsy syndromes.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1103
By:
- de Lange, Iris M.;
- Mulder, Flip;
- Slot, Ruben;
- Sonsma, Anja C. M.;
- Kempen, Marjan J. A.;
- Nijman, Isaac J.;
- Ernst, Robert F.;
- Knoers, Nine V. A. M.;
- Brilstra, Eva H.;
- Koeleman, Bobby P. C.
Publication type:
Article
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 358, doi. 10.1002/ajmg.c.31995
By:
- Claus, Laura R.;
- Snoek, Rozemarijn;
- Knoers, Nine V. A. M.;
- van Eerde, Albertien M.
Publication type:
Article
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 658, doi. 10.1002/ajmg.c.31753
By:
- Grange, Dorothy K.;
- Roessler, Helen I.;
- McClenaghan, Conor;
- Duran, Karen;
- Shields, Kathleen;
- Remedi, Maria S.;
- Knoers, Nine V. A. M.;
- Lee, Jin‐Moo;
- Kirk, Edwin P.;
- Scurr, Ingrid;
- Smithson, Sarah F.;
- Singh, Gautam K.;
- Haelst, Mieke M.;
- Nichols, Colin G.;
- Haaften, Gijs
Publication type:
Article
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2434, doi. 10.1002/ajmg.a.62348
By:
- Roessler, Helen I.;
- Heuvel, Lieke M.;
- Shields, Kathleen;
- Guilliams, Kristin P.;
- Knoers, Nine V. A. M.;
- Haaften, Gijs;
- Grange, Dorothy K.;
- Haelst, Mieke M.
Publication type:
Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
By:
- Stokman, Marijn F.;
- Oud, Machteld M.;
- van Binsbergen, Ellen;
- Slaats, Gisela G.;
- Nicolaou, Nayia;
- Renkema, Kirsten Y.;
- Nijman, Isaac J.;
- Roepman, Ronald;
- Giles, Rachel H.;
- Arts, Heleen H.;
- Knoers, Nine V. A. M.;
- van Haelst, Mieke M.
Publication type:
Article
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501
By:
- 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.;
- Roepman, Ronald;
- Arts, Heleen H.
Publication type:
Article
Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome.
Published in:
Kidney International, 2014, v. 85, n. 6, p. 1444, doi. 10.1038/ki.2013.531
By:
- Teeninga, Nynke;
- Kist-van Holthe, Joana E;
- van den Akker, Erica L T;
- Kersten, Marie C;
- Boersma, Eric;
- Krabbe, Hans G;
- Knoers, Nine V A M;
- van der Heijden, Albert J;
- Koper, Jan W;
- Nauta, Jeroen
Publication type:
Article
New molecular players facilitating Mg2+ reabsorption in the distal convoluted tubule.
Published in:
Kidney International, 2010, v. 77, n. 1, p. 17, doi. 10.1038/ki.2009.358
By:
- Glaudemans, Bob;
- Knoers, Nine V. A. M.;
- Hoenderop, Joost G. J.;
- Bindels, René J. M.
Publication type:
Article
New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule.
Published in:
2010
By:
- Glaudemans B;
- Knoers NV;
- Hoenderop JG;
- Bindels RJ;
- Glaudemans, Bob;
- Knoers, Nine V A M;
- Hoenderop, Joost G J;
- Bindels, René J M
Publication type:
journal article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
By:
- 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.
Publication type:
Article
Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias.
Published in:
2011
By:
- 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
Publication type:
Correction Notice
Common variants in DGKK are strongly associated with risk of hypospadias.
Published in:
Nature Genetics, 2011, v. 43, n. 1, p. 48, doi. 10.1038/ng.721
By:
- 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;
- Xufeng Zhang;
- Markljung, Ellen;
- Liang Qiao;
- Baskin, Laurence S.;
- Nordenskjöld, Agneta;
- Roeleveld, Nel;
- Franke, Barbara;
- Knoers, Nine V. A. M.
Publication type:
Article
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Published in:
Nature Genetics, 2007, v. 39, n. 7, p. 882, doi. 10.1038/ng2069
By:
- Arts, Heleen H.;
- Doherty, Dan;
- van Beersum, Sylvia E. C.;
- Parisi, Melissa A.;
- Letteboer, Stef J. F.;
- Gorden, Nicholas T.;
- Peters, Theo A.;
- Märker, Tina;
- Voesenek, Krysta;
- Kartono, Aileen;
- Ozyurek, Hamit;
- Farin, Federico M.;
- Kroes, Hester Y.;
- Wolfrum, Uwe;
- Brunner, Han G.;
- Cremers, Frans P. M.;
- Glass, Ian A.;
- Knoers, Nine V. A. M.;
- Roepman, Ronald
Publication type:
Article
TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy.
Published in:
PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102065
By:
- Hofstra, Julia M.;
- Coenen, Marieke J. H.;
- Schijvenaars, Mascha M. V. A. P.;
- Berden, Jo H. M.;
- van der Vlag, Johan;
- Hoefsloot, Lies H.;
- Knoers, Nine V. A. M.;
- Wetzels, Jack F. M.;
- Nijenhuis, Tom
Publication type:
Article
The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054113
By:
- Albersen, Monique;
- Bosma, Marjolein;
- Knoers, Nine V. V. A. M.;
- de Ruiter, Berna H. B.;
- Diekman, Eugène F.;
- de Ruijter, Jessica;
- Visser, Wouter F.;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0031327
By:
- Eerde, Albertien M. van;
- Duran, Karen;
- Riel, Els van;
- Kovel, Carolien G. F. de;
- Koeleman, Bobby P. C.;
- Knoers, Nine V. A. M.;
- Renkema, Kirsten Y.;
- van der Horst, Henricus J. R;
- Bökenkamp, Arend;
- van Hagen, Johanna M.;
- van den Berg, Leonard H.;
- Wolffenbuttel, Katja P.;
- van den Hoek, Joop;
- Feitz, Wouter F.;
- de Jong, Tom P. V. M.;
- Giltay, Jacques C.;
- Wijmenga, Cisca
Publication type:
Article
Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation?
Published in:
2010
By:
- van der Zanden, Loes F M;
- van Rooij, Iris A L M;
- Feitz, Wout F J;
- Vermeulen, Sita H H M;
- Kiemeney, Lambertus A L M;
- Knoers, Nine V A M;
- Roeleveld, Nel;
- Franke, Barbara
Publication type:
journal article
Autosomal Recessive Nephrogenic Diabetes Insipidus Caused by an Aquaporin-2 Mutation.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 2, p. 686, doi. 10.1210/jcem.82.2.3781
By:
- HOCHBERG, ZE’EV;
- VAN LIEBURG, ANITA;
- EVEN, LEA;
- BRENNER, BENJAMIN;
- LANIR, NAOMI;
- VAN OOST, BERNARD A.;
- KNOERS, NINE V. A. M.
Publication type:
Article
Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit.
Published in:
Annals of the New York Academy of Sciences, 2003, v. 986, n. 1, p. 437, doi. 10.1111/j.1749-6632.2003.tb07226.x
By:
- MEIJ, IWAN C.;
- KOENDERINK, JAN B.;
- JONG, JOKE C.;
- PONT, JAN JOEP H. H. M.;
- MONNENS, LEO A. H.;
- HEUVEL, LAMBERT P. W. J.;
- KNOERS, NINE V. A. M.
Publication type:
Article
What's in a name? That which we call diabetes does not taste sweet!
Published in:
Pediatric Nephrology, 2023, v. 38, n. 4, p. 937, doi. 10.1007/s00467-022-05815-8
By:
- Bockenhauer, Detlef;
- Knoers, Nine V. A. M.;
- Bichet, Daniel G.
Publication type:
Article
The term CAKUT has outlived its usefulness: the case for the defense.
Published in:
Pediatric Nephrology, 2022, v. 37, n. 11, p. 2793, doi. 10.1007/s00467-022-05678-z
By:
- Knoers, Nine V. A. M.
Publication type:
Article
Clinical utility gene card for: Gitelman syndrome.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.14
By:
- Knoers, Nine V. A. M.;
- Devuyst, Olivier;
- Kamsteeg, Erik-Jan
Publication type:
Article
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83
By:
- Bongers, Ernie M. H. F.;
- de Wijs, Ilse J.;
- Marcelis, Carlo;
- Hoefsloot, Lies H.;
- Knoers, Nine V. A. M.
Publication type:
Article
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
Published in:
2005
By:
- Koolen, David A..;
- Knoers, Nine V. A. M.;
- Nillesen, Willy M.;
- Slabbers, Gordon H. P. R.;
- Smeets, Dominique;
- de Leeuw, Nicole;
- Sistermans, Erik A.;
- de Vries, Bert B. A.
Publication type:
Letter
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446
By:
- 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.
Publication type:
Article
Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.
Published in:
Pflügers Archiv: European Journal of Physiology, 2002, v. 443, n. 3, p. 466, doi. 10.1007/s004240100708
By:
- Starremans, Patrick G. J. F.;
- van der Kemp, Annemiete W. C. M.;
- Knoers, Nine V. A. M.;
- van den Heuvel, Lambertus P. W. J.;
- Bindels, René J. M.
Publication type:
Article
Оновлення щодо застосування толваптану для лікування автосомно-домінантного полікістозу нирок (АДПН): консенсусна заява від імені Робочої групи ERA зі спадкових захворювань нирок, Європейської довідкової мережі з рідкісних захворювань нирок та Polycystic Kidney Disease International.
Published in:
Pocki, 2022, v. 11, n. 1, p. 37, doi. 10.22141/2307-1257.11.1.2022.357
By:
- Müller, Roman-Ulrich;
- Lianne Messchendorp, A.;
- Birn, Henrik;
- Capasso, Giovambattista;
- Gall, Emilie Cornec-Le;
- Devuyst, Olivier;
- Eerde, Albertien van;
- Guirchoun, Patrick;
- Harris, Tess;
- Hoorn, Ewout J.;
- Knoers, Nine V. A. M.;
- Korst, Uwe;
- Mekahli, Djalila;
- Meur, Yannick Le;
- Nijenhuis, Tom;
- Ong, Albert C. M.;
- Sayer, John A.;
- Schaefer, Franz;
- Servais, Aude;
- Tesar, Vladimir
Publication type:
Article
Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases.
Published in:
2024
By:
- Vermeer, Franciscus C.;
- Bolling, Marieke C.;
- Knoers, Nine V. A. M.;
- van den Akker, Peter C.;
- Bremer, Jeroen
Publication type:
Abstract
Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.
Published in:
Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01264
By:
- de Haan, Amber;
- Eijgelsheim, Mark;
- Vogt, Liffert;
- Knoers, Nine V. A. M.;
- de Borst, Martin H.
Publication type:
Article
Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A Gene.
Published in:
Annals of Otology, Rhinology & Laryngology, 2010, v. 119, n. 12, p. 806, doi. 10.1177/000348941011901204
By:
- Thomeer, Henricus G. X. M.;
- Crins, Tom T. H.;
- Kamsteeg, Erik J.;
- Buijsman, Wendy;
- Cruysberg, Johannes R. M.;
- Knoers, Nine V. A. M.;
- Cremers, Cor W. R. J.
Publication type:
Article
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.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1154, doi. 10.1111/epi.14191
By:
- de Lange, Iris M.;
- Sonsma, Anja C. M.;
- van Kempen, Marjan;
- Verbeek, Nienke E.;
- Knoers, Nine V. A. M.;
- Koeleman, Bobby P. C.;
- Brilstra, Eva H.;
- Gunning, Boudewijn;
- van Gemert, Lisette;
- Nicolai, Joost
Publication type:
Article
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 3, p. 690, doi. 10.1111/epi.14021
By:
- de Lange, Iris M.;
- Koudijs, Marco J.;
- van ’t Slot, Ruben;
- Gunning, Boudewijn;
- Sonsma, Anja C. M.;
- van Gemert, Lisette J. J. M.;
- Mulder, Flip;
- Carbo, Ellen C.;
- van Kempen, Marjan J. A.;
- Verbeek, Nienke E.;
- Nijman, Isaac J.;
- Ernst, Robert F.;
- Savelberg, Sanne M. C.;
- Knoers, Nine V. A. M.;
- Brilstra, Eva H.;
- Koeleman, Bobby P. C.
Publication type:
Article
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
Published in:
Clinical Kidney Journal, 2023, v. 16, n. 4, p. 722, doi. 10.1093/ckj/sfac269
By:
- Haan, Amber de;
- Morel, Chantal F;
- Eijgelsheim, Mark;
- Jong, Margriet F C de;
- Broekroelofs, Jan;
- Vogt, Liffert;
- Knoers, Nine V A M;
- Borst, Martin H de
Publication type:
Article
Relief of nocturnal enuresis by desmopressin is kidney and Vasopressin type-2 receptor independent.
Published in:
FASEB Journal, 2007, v. 21, n. 5, p. A509, doi. 10.1096/fasebj.21.5.a509-b
By:
- Deen, Peter M. T.;
- Robben, Joris H.;
- Knoers, Nine V. A. M.;
- Paul, Eggert;
- Mueller, Dominik
Publication type:
Article
Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.727
By:
- Lange, Iris M.;
- Weuring, Wout;
- 't Slot, Ruben;
- Gunning, Boudewijn;
- Sonsma, Anja C. M.;
- McCormack, Mark;
- Kovel, Carolien;
- Gemert, Lisette J. J. M.;
- Mulder, Flip;
- Kempen, Marjan J. A.;
- Knoers, Nine V. A. M.;
- Brilstra, Eva H.;
- Koeleman, Bobby P. C.
Publication type:
Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
By:
- 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.
Publication type:
Article
Inherited forms of renal hypomagnesemia: an update.
Published in:
Pediatric Nephrology, 2009, v. 24, n. 4, p. 697, doi. 10.1007/s00467-008-0968-x
By:
- Knoers, Nine V. A. M.
Publication type:
Article
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.
Published in:
Pediatric Nephrology, 1996, v. 10, n. 4, p. 403, doi. 10.1007/s004670050129
By:
- Lemmink, Henny H.;
- van den Heuvel, Lambert P. W. J.;
- van Dijk, Henk A.;
- Merkx, Gerard F. M.;
- Smilde, Tineke J.;
- Taschner, Peter E. M.;
- Monnens, Leo A. H.;
- Hebert, Steve C.;
- Knoers, Nine V. A. M.
Publication type:
Article
Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".
Published in:
2022
By:
- de Baaij, Jeroen H. F.;
- Bockenhauer, Detlef;
- Claverie-Martin, Felix;
- Hoenderop, Joost G. J.;
- Hoorn, Ewout J.;
- Houillier, Pascal;
- Knoers, Nine V. A. M.;
- Konrad, Martin;
- Müller, Dominik;
- Nijenhuis, Tom;
- Schlingmann, Karl Peter;
- Vargas Poussou, Rosa
Publication type:
Letter
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.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147171
By:
- 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.
Publication type:
Article
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Published in:
Nephrology Dialysis Transplantation, 2000, v. 15, n. 7, p. 970, doi. 10.1093/ndt/15.7.970
By:
- Vollmer, Martin;
- Jeck, Nikola;
- Lemmink, Henny H.;
- Vargas, Rosa;
- Feldmann, Delphine;
- Konrad, Martin;
- Beekmann, Frank;
- van den Heuvel, Lambertus P. W. J.;
- Deschenes, Georges;
- Guay‐Woodford, Lisa M.;
- Antignac, Corinne;
- Seyberth, Hannsjörg W.;
- Hildebrandt, Friedhelm;
- Knoers, Nine V. A. M.
Publication type:
Article
Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line.
Published in:
Nephrology Dialysis Transplantation, 2004, v. 19, n. 5, p. 1069, doi. 10.1093/ndt/gfg474
By:
- Joke C. de Jong;
- Peter H. G. M. Willems;
- Monique Goossens;
- Alain Vandewalle;
- Lambertus P. W. J. van den Heuvel;
- Nine V. A. M. Knoers;
- René J. M. Bindels
Publication type:
Article
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss.
Published in:
Nephrology Dialysis Transplantation, 2003, v. 18, n. 3, p. 512, doi. 10.1093/ndt/18.3.512
By:
- Meij, Iwan C.;
- Van den Heuvel, Lambert P. W. J.;
- Hemmes, Sies;
- van der Vliet, Walter A.;
- Willems, Johannes L.;
- Monnens, Leo A. H.;
- Knoers, Nine V. A. M.
Publication type:
Article
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59092-6
By:
- de Boer, Eddy N.;
- Vroom, Vincent;
- Scheper, Arjen J.;
- Johansson, Lennart F.;
- Bosscher, Laura;
- Rietema, Nettie;
- Commandeur-Jan, Sabrina Z.;
- Knoers, Nine V. A. M.;
- Sikkema-Raddatz, Birgit;
- van den Berg, Eva;
- van Diemen, Cleo C.
Publication type:
Article
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 3, p. 355, doi. 10.1093/hmg/7.3.355
By:
- Cremers, Frans P. M.;
- van de Pol, Dorien J. R.;
- van Driel, Marc;
- den Hollander, Anneke I.;
- van Haren, Frank J. J.;
- Knoers, Nine V. A. M.;
- Tijmes, Nel;
- Bergen, Arthur A. B.;
- Rohrschneider, Klaus;
- Blankenagel, Anita;
- Pinckers, Alfred J. L. G.;
- Deutman, August F.;
- Hoyng, Carel B.
Publication type:
Article

Found: 51