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51

Erfelijke kanalopathieën

N. V. A. M. Knoers

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2006

Language:

dutch

File:

PDF, 59 KB

dutch, 2006

52

Aquaporines in de nier en hun rol in nefrogene diabetes insipidus

J. H. Robben, N. V. A. M. Knoers, P. M. T. Deen

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2006

File:

PDF, 116 KB

2006

53

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

S. Vermeer, H. P. H. Kremer, Q. H. Leijten, H. Scheffer, G. Matthijs, R. A. Wevers, N. A. V. M. Knoers, E. Morava, D. J. Lefeber

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 198 KB

english, 2007

54

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

B. P. C. van de Warrenburg, C. W. G. M. Frenken, M. G. E. M. Ausems, T. Kleefstra, R. J. Sinke, N. V. A. M. Knoers, H. P. H. Kremer

Journal:

Journal of Neurology

Year:

2001

Language:

english

File:

PDF, 269 KB

english, 2001

55

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

56

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

57

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

58

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

59

Hereditary disorders of the glomerular basement membrane

H. J. M. Smeets, V. V. A. M. Knoers, L. P. W. J. van de Heuvel, H. H. Lemmink, C. H. Schröder, L. A. H. Monnens

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 210 KB

english, 1996

60

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

61

Human syndromes with congenital patellar anomalies and the underlying gene defects

EMHF Bongers, A Van Kampen, H Van Bokhoven, NVAM Knoers

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 12.66 MB

english, 2005

62

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

63

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

64

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

65

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

66

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Friedman, J I, Vrijenhoek, T, Markx, S, Janssen, I M, van der Vliet, W A, Faas, B H W, Knoers, N V, Cahn, W, Kahn, R S, Edelmann, L

Journal:

Molecular Psychiatry

Year:

2010

Language:

english

File:

PDF, 65 KB

english, 2010

67

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

68

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

69

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

70

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

71

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Friedman, J I, Vrijenhoek, T, Markx, S, Janssen, I M, van der Vliet, W A, Faas, B H W, Knoers, N V, Cahn, W, Kahn, R S, Edelmann, L

Journal:

Molecular Psychiatry

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

72

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

73

Autosomal recessive cerebellar ataxias: the current state of affairs

Vermeer, S., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Cluitmans, M., Scheffer, H., Kremer, B. P., Knoers, N. V. A. M.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 338 KB

english, 2011

74

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

75

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

76

Molecular and cellular defects in nephrogenic diabetes insipidus

Knoers, N. V. A. M., Deen, Peter M.T.

Journal:

Pediatric Nephrology

Year:

2001

Language:

english

File:

PDF, 61 KB

english, 2001

77

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

78

Dry beneficiation of high loss-on-ignition fly ash

Y Soong, M.R Schoffstall, M.L Gray, J.P Knoer, K.J Champagne, R.J Jones, D.J Fauth

Journal:

Separation and Purification Technology

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

79

Decreased bone density and treatment in patients with autosomal recessive cutis laxa

C Noordam, S Funke, NV Knoers, P Jira, RA Wevers, Z Urban, E Morava

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 173 KB

english, 2009

80

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Harakalova, M., van den Boogaard, M.-J., Sinke, R., van Lieshout, S., van Tuil, M. C., Duran, K., Renkens, I., Terhal, P. A., de Kovel, C., Nijman, I. J., van Haelst, M., Knoers, N. V. A. M., van Haaf

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 471 KB

english, 2012

81

Molecular Cloning, Tissue Distribution, and Chromosomal Mapping of the Human Epithelial Ca2+ Channel (ECAC1)

D. Müller, J.G.J. Hoenderop, I.C. Meij, L.P.J. van den Heuvel, N.V.A.M. Knoers, A.I. den Hollander, P. Eggert, V. Garcı&amp, #x0301, a-Nieto, F. Claverie-Martı&amp, #x0301, n, R.J.M. Bindels

Journal:

Year:

2000

Language:

english

File:

PDF, 195 KB

english, 2000

82

Economies as distributions: Implications for aggregation and stability

Journal:

Journal of Economic Theory

Year:

1980

Language:

english

File:

PDF, 623 KB

english, 1980

83

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

84

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

85

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

86

N.P.2 04 Patients with spinal muscular atrophy (SMA) and healthy siblings sharing homozygous deletions of the SMN1 gene reveal an identical number of SMN2 gene copies but different SMN protein levels

H.H. Lemmink, Y.J. Vos, I. Plaza de Menacho, J. Dijkhuis, N.V.A.M. Knoers, M. de Visser, C.H.C.M. Buys

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 42 KB

english, 2006

87

P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene

C.W. Ockeloen, H.J. Gilhuis, R. Pfundt, E.J. Kamsteeg, A.H. Beggs, A. Dara-Hama Amin, V.V.A. Knoers, M. Lammens, N. Alfen van

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

88

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

C.W. Ockeloen, H.J. Gilhuis, R. Pfundt, E.J. Kamsteeg, P.B. Agrawal, A.H. Beggs, A. Dara Hama-Amin, A. Diekstra, N.V.A.M. Knoers, M. Lammens, N. van Alfen

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.07 MB

english, 2012

89

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

90

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

91

Amiloride-hydrochlorothiazide versus indomethacin-hydrochlorothiazide in the treatment of nephrogenic diabetes insipidus

N. Knoers, L.A.H. Monnens

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 314 KB

english, 1990

92

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

93

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

94

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

95

From Karyotyping to Array-CGH in Prenatal Diagnosis

Lichtenbelt, K.D., Knoers, N.V.A.M., Schuring-Blom, G.H.

Journal:

Cytogenetic and Genome Research

Year:

2011

Language:

english

File:

PDF, 303 KB

english, 2011

96

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

97

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

98

Molecular characterization of nephrogenic diabetes insipidus

Nine V.A.M. Knoers

Journal:

Trends in Endocrinology & Metabolism

Year:

1994

Language:

english

File:

PDF, 991 KB

english, 1994

99

Genetic and environmental risk factors in Parkinson’s disease

B.A.J Veldman, A.M Wijn, N Knoers, P Praamstra, M.W.I.M Horstink

Journal:

Clinical Neurology and Neurosurgery

Year:

1998

Language:

english

File:

PDF, 110 KB

english, 1998

100

Extensive magmatic and hydrothermal activity documented in Manus Basin

Auzende, Jean-Marie, Ishibashi, Jun-Ishiro, Beaudoin, Yannick, Charlou, Jean-Luc, Delteil, Jean, Donval, Jean-Pierre, Fouquet, Yves, Ildefonse, Benoit, Kimura, Hiroyuki, Nishio, Yoshiro, Radford-Knoer

Journal:

Eos Transactions American Geophysical Union

Year:

2000

Language:

english

File:

PDF, 3.65 MB

english, 2000

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