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1

Maternal and paternal risk factors for anorectal malformations: A Dutch case-control study

Iris A. L. M. van Rooij, Charlotte H. W. Wijers, Paul N. M. A. Rieu, Hester S. Hendriks, Marijn M. Brouwers, Nine V. Knoers, Ivo de Blaauw, Nel Roeleveld

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

2

Genetics of hypospadias: are single nucleotide polymorphisms in srd5a2, esr1, esr2 and atf3 really associated with the malformation?

Loes F.M. Van Der Zanden, Iris A.L.M. Van Rooij, Wout F.J. Feitz, Sita H.H.M. Vermeulen, Lambertus A.L.M. Kiemeney, Nine V.A.M. Knoers, Nel Roeleveld, Barbara Franke

Journal:

Journal of Pediatric Urology

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

3

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

4

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

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., S

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

File:

PDF, 29.56 MB

2019

5

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Sche

Journal:

Year:

2008

Language:

english

File:

PDF, 181 KB

english, 2008

6

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

7

Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome

Ring, Troels, Knoers, Nine, Oh, Man, Halperin, Mitchell

Journal:

Pediatric Nephrology

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

8

Gitelman syndrome

Nine VAM Knoers, Elena N Levtchenko

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

9

Genetic Testing: Considerations for Pediatric Nephrologists

Guay-Woodford, Lisa M., Knoers, Nine V.A.M.

Journal:

Seminars in Nephrology

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

10

Exploration of Gene-Environment Interactions, Maternal Effects and Parent of Origin Effects in the Etiology of Hypospadias

van der Zanden, Loes F.M., Galesloot, Tessel E., Feitz, Wout F.J., Brouwers, Marijn M., Shi, Min, Knoers, Nine V.A.M., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M.

Journal:

The Journal of Urology

Year:

2012

Language:

english

File:

PDF, 575 KB

english, 2012

11

280 GENETICS OF HYPOSPADIAS: ARE SINGLE NUCLEOTIDE POLYMORPHISMS IN SRD5A2, ESR1, ESR2 AND ATF3 REALLY ASSOCIATED WITH THE MALFORMATION?

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

Journal:

The Journal of Urology

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

12

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

van Rooij, Iris A.L.M., van der Zanden, Loes F.M., Brouwers, Marijn M., Knoers, Nine V.A.M., Feitz, Wout F.J., Roeleveld, Nel

Journal:

BJU International

Year:

2013

Language:

english

File:

PDF, 135 KB

english, 2013

13

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

Monroe, Glen R, Harakalova, Magdalena, van der Crabben, Saskia N, Majoor-Krakauer, Danielle, Bertoli-Avella, Aida M, Moll, Frans L, Oranen, Björn I, Dooijes, Dennis, Vink, Aryan, Knoers, Nine V, Mauge

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.89 MB

english, 2015

14

Genetics of Hypospadias: Are Single-Nucleotide Polymorphisms in SRD5A2 , ESR1 , ESR2 , and ATF3 Really Associated with the Malformation?

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

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 192 KB

english, 2010

15

Effects of arginine vasopressin and 1-desamino-8-D arginine vasopressin on forearm vasculature of healthy subjects and patients with a V2 receptor defect

van Lieburg, Angenita F., Knoers, Nine V.A.M., Monnens, Leo A.H., Smits, Paul

Journal:

Journal of Hypertension

Year:

1995

File:

PDF, 492 KB

1995

16

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

17

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Hamel, Ben C.J., Smits, Arie P.T., van den Helm, Bellinda, Smeets, Dominique F.C.M., Knoers, Nine V.A.M., van Roosmalen, Tanja, Thoonen, Geert H.J., Assman-Hulsmans, Claire F.C.H., Ropers, Hans-Hilger

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 965 KB

english, 1999

18

X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

Yntema, Helger G., van den Helm, Bellinda, Knoers, Nine V.A.M., Smits, Arie P.T., van Roosmalen, Tanja, Smeets, Dominique F.C.M., Mariman, Edwin C.M., van der Burgt, Ineke, van Bokhoven, Hans, Ropers,

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

19

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

20

Massively parallel sequencing of ataxia genes after array-based enrichment

Alexander Hoischen, Christian Gilissen, Peer Arts, Nienke Wieskamp, Walter van der Vliet, Sascha Vermeer, Marloes Steehouwer, Petra de Vries, Rowdy Meijer, Jorge Seiqueros, Nine V.A.M. Knoers, Michael

Journal:

Year:

2010

Language:

english

File:

PDF, 526 KB

english, 2010

21

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Lemmink, Henny H, Knoers, Nine V A M, Károlyi, Lothar, van Dijk, Henk, Niaudet, Patrick, Antignac, Corinne, Guay-Woodford, Lisa M, Goodyer, Paul R, Carel, Jean-Claude, Hermes, Ad, Seyberth, Hansjörg W

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 626 KB

english, 1998

22

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation

Angenita F. Lieburg, Marian A. J. Verdijk, Frans Schoute, Marjolijn J. L. Ligtenberg, Bernard A. Oost, Franz Waldhauser, Maria Dobner, Leo A. H. Monnens, Nine V. A. M. Knoers

Journal:

Year:

1995

Language:

english

File:

PDF, 719 KB

english, 1995

23

Discovery of aquaporins: a breakthrough in research on renal water transport

Angenita F. Lieburg, Nine V. A. M. Knoers, Peter M. T. Deen

Journal:

Pediatric Nephrology

Year:

1995

Language:

english

File:

PDF, 835 KB

english, 1995

24

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome

Patrick G. Starremans, Annemiete W. van der Kemp, Nine V. Knoers, Lambertus P. van den Heuvel, René J. Bindels

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2002

Language:

english

File:

PDF, 226 KB

english, 2002

25

Teaching molecular genetics: Chapter 1—Background principles and methods of molecular biology

Nine V. A. M. Knoers, Leo A. H. Monnens

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 364 KB

english, 2006

26

Inherited forms of renal hypomagnesemia: an update

Nine V. A. M. Knoers

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

27

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families

Henny H. Lemmink, Lambert P. W. J. van den Heuvel, Henk A. van Dijk, Gerard F. M. Merkx, Tineke J. Smilde, Peter E. M. Taschner, Leo A. H. Monnens, Steve C. Hebert, Nine V. A. M. Knoers

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 1.90 MB

english, 1996

28

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Sascha Vermeer, Rowdy P. P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R. M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart. P. C. van de Warrenburg, Nine V. A. M. Knoers, Hans Sche

Journal:

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

29

Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit

IWAN C. MEIJ, JAN B. KOENDERINK, JOKE C. DE JONG, JAN JOEP H. H. M. DE PONT, LEO A. H. MONNENS, LAMBERT P. W. J. VAN DEN HEUVEL, NINE V. A. M. KNOERS

Journal:

Annals of the New York Academy of Sciences

Year:

2003

File:

PDF, 1.49 MB

2003

30

10.1038/81543

Knoers, Nine V.A.M., Meij, Iwan C., Koenderink, Jan B., van Bokhoven, Hans, Assink, Karin F.H., Tiel Groenestege, Wouter, de Pont, Jan Joep H.H.M., Bindels, René J.M., Monnens, Leo A.H., van den Heuve

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 719 KB

english, 2000

31

Clinical utility gene card for: Gitelman syndrome

Knoers, Nine VAM, Devuyst, Olivier, Kamsteeg, Erik-Jan

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

32

Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus

Knoers, Nine V A M, van den Ouweland, Ans M W, Verdijk, Marian, Monnens, Leo A H, van Oost, Bernard A

Journal:

Kidney International

Year:

1994

Language:

english

File:

PDF, 444 KB

english, 1994

33

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

van den Ouweland, Ans M.W., Dreesen, Jos C.F.M., Verdijk, Marian, Knoers, Nine V.A.M., Monnens, Leo A.H., Rocchi, Mariano, van Oost, Bernard A.

Journal:

Nature Genetics

Year:

1992

File:

PDF, 697 KB

1992

34

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

Silahtaroglu, Asli, Hol, Frans A, Jensen, Peter KA, Erdel, Martin, Duba, Hans-Christoph, Geurds, Monique PA, Knoers, Nine VAM, Mariman, Edwin CM, Tümer, Zeynep, Utermann, Gerd

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

35

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

Weber, Stefanie, Hoffmann, Katrin, Jeck, Nikola, Saar, Kathrin, Boeswald, Martin, Kuwertz-Broeking, Eberhard, Meij, Ivan IC, Knoers, Nine VAM, Cochat, Pierre, Šuláková, Tereza

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

36

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

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

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

37

Genetic disorders of magnesium homeostasis

Iwan C. Meij, Lambert P.W.J. van den Heuvel, Nine V.A.M. Knoers

Journal:

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

38

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

39

A novel mutation of the epithelial Na+channel causes type 1 pseudohypoaldosteronism

Bonny, Olivier, Knoers, Nine, Monnens, Leo, Rossier, Bernard

Journal:

Pediatric Nephrology

Year:

2002

Language:

english

File:

PDF, 175 KB

english, 2002

40

Urine osmolality, cyclic AMP and aquaporin-2 in urine of patients under lithium treatment in response to water loading followed by vasopressin administration

Ingeborg Wilting, Ruben Baumgarten, Kris L.L. Movig, Jan van Laarhoven, Alfred J. Apperloo, Willem A. Nolen, Eibert R. Heerdink, Nine V.A.M. Knoers, Antoine C.G. Egberts

Journal:

European Journal of Pharmacology

Year:

2007

Language:

english

File:

PDF, 289 KB

english, 2007

41

Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia

Edinio R. Cairo, Thomas Friedrich, Herman G.P. Swarts, Nine V. Knoers, René J.M. Bindels, Leo A. Monnens, Peter H.G.M. Willems, Jan Joep H.H.M. De Pont, Jan B. Koenderink

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2008

Language:

english

File:

PDF, 429 KB

english, 2008

42

Focus on Molecules: RPGRIP1

Heleen H. Arts, Frans P.M. Cremers, Nine V.A.M. Knoers, Ronald Roepman

Journal:

Experimental Eye Research

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

43

Maternal And Paternal Risk Factors For Anorectal Malformations

Iris VAN ROOIJ, Paul RIEU, Hester HENDRIKS, Marijn BROUWERS, Ivo DE BLAAUW, Nine KNOERS, Nel ROELEVELD

Journal:

Journal of Pediatric Urology

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

44

Plasma levels of von Willebrand factor, von Willebrand factor propeptide and factor VIII in carriers and patients with nephrogenic diabetes insipidus

A. Yaël Nossent, Johanne H. Ellenbroek, Marijke Frölich, Rogier M. Bertina, Nine V.A.M. Knoers, Jeroen C.J. Eikenboom

Journal:

Thrombosis Research

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

45

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

46

Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus

Rolf Postina, Elke Ufer, Roland Pfeiffer, Nine V.A.M. Knoers, Falk Fahrenholz

Journal:

Molecular and Cellular Endocrinology

Year:

2000

Language:

english

File:

PDF, 281 KB

english, 2000

47

Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder

Encarna B Gómez García, Nine VAM Knoers

Journal:

The Lancet Oncology

Year:

2009

Language:

english

File:

PDF, 560 KB

english, 2009

48

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Iwan C. Meij, Kathrin Saar, Lambert P.W.J. van den Heuvel, Gudrun Nuernberg, Martin Vollmer, Friedhelm Hildebrandt, André Reis, Leo A.H. Monnens, Nine V.A.M. Knoers

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.49 MB

english, 1999

49

Genetics of hypospadias

Loes VAN DER ZANDEN Wout FEITZ∗, Robert DE GIER∗, Iris VAN ROOIJ, Nine KNOERS†, Nel ROELEVELD, Barbara FRANKE‡

Journal:

Journal of Pediatric Urology

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

50

Congenital nephrogenic diabetes insipidus: the current state of affairs

Wesche, Daniel, Deen, Peter M. T., Knoers, Nine V. A. M.

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 850 KB

english, 2012

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