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1

Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34

Slegtenhorst, M. v.

Journal:

Year:

1997

Language:

english

File:

PDF, 514 KB

english, 1997

2

Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy

van Velzen, Hannah G., Vriesendorp, Pieter A., Oldenburg, Rogier A., van Slegtenhorst, Marjon A., van der Velden, Jolanda, Schinkel, Arend F.L., Michels, Michelle

Journal:

The American Journal of Cardiology

Year:

2016

Language:

english

File:

PDF, 828 KB

english, 2016

3

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder MutationCLINICAL PERSPECTIVE

van Velzen, Hannah G., Schinkel, Arend F.L., Oldenburg, Rogier A., van Slegtenhorst, Marjon A., Frohn-Mulder, Ingrid M.E., van der Velden, Jolanda, Michels, Michelle

Journal:

Circulation Cardiovascular Genetics

Year:

2017

Language:

english

File:

PDF, 604 KB

english, 2017

4

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

Huijmans, Jan G. M., Schot, Rachel, de Klerk, Johannis B. C., Williams, Monique, de Coo, René F. M., Duran, Marinus, Verheijen, Frans W., van Slegtenhorst, Marjon, Mancini, Grazia M. S.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 824 KB

english, 2017

5

Discrete flow states in capillary flow of He II

R.P. Slegtenhorst, H. van Beelen

Journal:

Year:

1977

Language:

english

File:

PDF, 416 KB

english, 1977

6

Analysis of an experiment on thermally driven flow of helium II in two coupled capillaries

R.P. Slegtenhorst, H. van Beelen

Journal:

Year:

1979

Language:

english

File:

PDF, 695 KB

english, 1979

7

A survey of experimental data on capillary flow of helium II in the temperature range between 1 K and 2 K

R.P. Slegtenhorst, H. Van Beelen

Journal:

Year:

1981

Language:

english

File:

PDF, 985 KB

english, 1981

8

Observation of steady inhomogeneous flow states in capillary flow of helium II

R.P. Slegtenhorst, G. Marees, H. van Beelen

Journal:

Year:

1981

Language:

english

File:

PDF, 149 KB

english, 1981

9

Transient effects in superfluid turbulence

R.P Slegtenhorst, G Marees, H van Beelen

Journal:

Year:

1982

Language:

english

File:

PDF, 850 KB

english, 1982

10

Steady flow of helium II in the presence of a heat current

R.P Slegtenhorst, G Marees, H van Beelen

Journal:

Year:

1982

Language:

english

File:

PDF, 1.62 MB

english, 1982

11

Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1

D. HUMPHREY, J. KWIATKOWSKA, E. P. HENSKE, J. L. HAINES, D. HALLEY, M. van SLEGTENHORST, D. J. KWIATKOWSKI

Journal:

Annals of Human Genetics

Year:

1997

Language:

english

File:

PDF, 570 KB

english, 1997

12

Measurements on isothermal flow of helium II in narrow tubes

G. Marees, R. P. Slegtenhorst, H. Beelen

Journal:

Journal of Low Temperature Physics

Year:

1983

Language:

english

File:

PDF, 548 KB

english, 1983

13

10.1038/78078

Hutton, Mike, Lewis, Jada, McGowan, Eileen, Rockwood, Julia, Melrose, Heather, Nacharaju, Parimala, Van Slegtenhorst, Marjon, Gwinn-Hardy, Katrina, Paul Murphy, M., Baker, Matt, Yu, Xin, Duff, Karen,

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 704 KB

english, 2000

14

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

E. Otten, R. H. Lekanne dit Deprez, M. M. Weiss, M. van Slegtenhorst, M. Joosten, J. J. van der Smagt, N. de Jonge, W. S. Kerstjens-Frederikse, M. T. R. Roofthooft, A. H. M. M. Balk, M. P. van den Ber

Journal:

Netherlands Heart Journal

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

15

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

A. van den Wijngaard, P. Volders, J. P. Van Tintelen, J. D. H. Jongbloed, M. P. van den Berg, R. H. Lekanne Deprez, M. M. A. M. Mannens, N. Hofmann, M. Slegtenhorst, D. Dooijes, M. Michels, Y. Arens,

Journal:

Netherlands Heart Journal

Year:

2011

Language:

english

File:

PDF, 261 KB

english, 2011

16

Missense tau mutations identified in FTDP-17 have a small effect on tau–microtubule interactions

Michael DeTure, Li-wen Ko, Samuel Yen, Parimala Nacharaju, Colin Easson, Jada Lewis, Marjon van Slegtenhorst, Michael Hutton, Shu-Hui Yen

Journal:

Year:

2000

Language:

english

File:

PDF, 756 KB

english, 2000

17

The molecular genetics of the tauopathies

M van Slegtenhorst, J Lewis, M Hutton

Journal:

Experimental Gerontology

Year:

2000

Language:

english

File:

PDF, 1.31 MB

english, 2000

18

A 1.7-Megabase Sequence-Ready Cosmid Contig Covering the TSC1 Candidate Region in 9q34

N. Hornigold, M. van Slegtenhorst, J. Nahmias, R. Ekong, S. Rousseaux, C. Hermans, D. Halley, S. Povey, J. Wolfe

Journal:

Year:

1997

Language:

english

File:

PDF, 197 KB

english, 1997

19

Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation

R. Dayanandan, M. Van Slegtenhorst, T.G.A. Mack, L. Ko, S.-H. Yen, K. Leroy, J.-P. Brion, B.H. Anderton, M. Hutton, S. Lovestone

Journal:

Year:

1999

Language:

english

File:

PDF, 201 KB

english, 1999

20

In vitro analysis of FTDP-17 linked tau mutations

Marjon van Slegtenhorst, Liselot Vink, Mike Hutton

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

21

Tau proteins with frontotemporal dementia-17 mutations have both altered expression levels and phosphorylation profiles in differentiated neuroblastoma cells

T.G.A Mack, R Dayanandan, M Van Slegtenhorst, A Whone, M Hutton, S Lovestone, B.H Anderton

Journal:

Year:

2001

Language:

english

File:

PDF, 1012 KB

english, 2001

22

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

Monique L Den Boer, Marjon van Slegtenhorst, Renée X De Menezes, Meyling H Cheok, Jessica GCAM Buijs-Gladdines, Susan TCJM Peters, Laura JCM Van Zutven, H Berna Beverloo, Peter J Van der Spek, Gaby Es

Journal:

The Lancet Oncology

Year:

2009

Language:

english

File:

PDF, 612 KB

english, 2009

23

HIF-1α gene therapy combined with HIF-1 activated bone marrow-derived angiogenic cell (BMDAC) therapy improves burn wound healing in aged mice

Junkai Du, Lixin Liu, Frank Lay, Qian Wang, Chunqing Dou, Raul Sebastian, Sayed Mohammad Hosseini, Andrew Simon, Bendix Slegtenhorst, John W. Harmon

Journal:

Journal of the American College of Surgeons

Year:

2012

Language:

english

File:

PDF, 102 KB

english, 2012

24

Perturbed Length-Dependent Activation in Human HCM with Sarcomere Mutations in Thin Filament Proteins

Sequeira, Vasco, Regan, Jessica A., Michels, Michelle, ten Cate, Folkert J., van Slegtenhorst, Marjon A., Stienen, Ger J.M., dos Remedios, Cris, van der Velden, Jolanda

Journal:

Biophysical Journal

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

25

Reduced Length-Dependent Activation in Human Cardiomyocytes Harboring the Troponin I Mutation R145W

Regan, Jessica, Sequeira, Vasco, Stienen, Ger J.M., Michels, Michelle, ten Cate, Folkert J., van Slegtenhorst, Marjon, dos Remedios, Cris, Konhilas, John, van der Velden, Jolanda

Journal:

Biophysical Journal

Year:

2012

Language:

english

File:

PDF, 40 KB

english, 2012

26

4100 Genetic characterization of a new subgroup of childhood precursor B-ALL with a very poor prognosis

A. van der Veer, M. Slegtenhorst, M.E. Willemse, R.X. de Menezes, R. Pieters, M.L. den Boer

Journal:

European Journal of Cancer Supplements

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

27

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

Vriesendorp, Pieter A., Schinkel, Arend F.L., Van Cleemput, Johan, Willems, Rik, Jordaens, Luc J.L.M., Theuns, Dominic A.M.J., van Slegtenhorst, Marjon A., de Ravel, Thomy J., ten Cate, Folkert J., Mi

Journal:

American Heart Journal

Year:

2013

Language:

english

File:

PDF, 515 KB

english, 2013

28

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients withMYBPC3mutations

Dijk, Sabine J., Boontje, Nicky M., Heymans, Martijn W., Cate, Folkert J., Michels, Michelle, Remedios, Cris, Dooijes, Dennis, Slegtenhorst, Marjon A., Velden, Jolanda, Stienen, Ger J. M.

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2014

Language:

english

File:

PDF, 949 KB

english, 2014

29

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy

Witjas-Paalberends, E. R., Piroddi, N., Stam, K., van Dijk, S. J., Oliviera, V. S., Ferrara, C., Scellini, B., Hazebroek, M., ten Cate, F. J., van Slegtenhorst, M., dos Remedios, C., Niessen, H. W. M.

Journal:

Cardiovascular Research

Year:

2013

Language:

english

File:

PDF, 812 KB

english, 2013

30

Cardiomyocyte Hypertrophy and Reduced Myofibril Density Underlie Decreased Maximal Force Generating Capacity in Familial Hypertrophic Cardiomyopathy

Paalberends, Eline R., Stam, Kelly, van Dijk, Sabine J., van Slegtenhorst, Marjon, dos Remedios, Cris, ten Cate, Folkert J.J., Niessen, Hans W.M, Stienen, Ger J.M, Michels, Michelle, van der Velden, J

Journal:

Biophysical Journal

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

31

Effect of primary versus revisional Roux-en-Y gastric bypass: inferior weight loss of revisional surgery after gastric banding

Slegtenhorst, Bendix R., van der Harst, Erwin, Demirkiran, Ahmet, de Korte, Joyce, Schelfhout, Lodewijk J., Klaassen, Rene A.

Journal:

Surgery for Obesity and Related Diseases

Year:

2013

Language:

english

File:

PDF, 327 KB

english, 2013

32

Regulation of gene expression in Sertoli cells by follicle-stimulating hormone (FSH): cloning and characterization of LRPR1, a primary response gene encoding a leucine-rich protein

Slegtenhorst-Eegdeman, K.E., Post, M., Baarends, W.M., Themmen, A.P.N., Grootegoed, J.A.

Journal:

Molecular and Cellular Endocrinology

Year:

1995

Language:

english

File:

PDF, 1.26 MB

english, 1995

33

Ischemia/Reperfusion Injury and its Consequences on Immunity and Inflammation

Slegtenhorst, Bendix R., Dor, Frank J. M. F., Rodriguez, Hector, Voskuil, Floris J., Tullius, Stefan G.

Journal:

Current Transplantation Reports

Year:

2014

Language:

english

File:

PDF, 496 KB

english, 2014

34

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A.,

Journal:

Year:

2013

Language:

english

File:

PDF, 342 KB

english, 2013

35

Diastolic Abnormalities in Normal Phenotype Hypertrophic Cardiomyopathy Gene Carriers: A Study Using Speckle Tracking Echocardiography

Kauer, Floris, van Dalen, Bas M., Michels, Michelle, Soliman, Osama I. I., Vletter, Wim B., van Slegtenhorst, Marjon, ten Cate, Folkert J., Geleijnse, Marcel L.

Journal:

Echocardiography

Year:

2013

Language:

english

File:

PDF, 112 KB

english, 2013

36

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

van Slegtenhorst, M

Journal:

Human Molecular Genetics

Year:

1998

Language:

english

File:

PDF, 211 KB

english, 1998

37

Antioxidant intake in paediatric oncology patients

Slegtenhorst, Sonja, Visser, Janicke, Burke, Amos, Meyer, Rosan

Journal:

Clinical Nutrition

Year:

2014

Language:

english

File:

PDF, 234 KB

english, 2014

38

Mechanisms and Consequences of Injury and Repair in Older Organ Transplants

Slegtenhorst, Bendix R., Dor, Frank J.M.F., Elkhal, Abdala, Rodriguez, Hector, Yang, Xiaoyong, Edtinger, Karoline, Quante, Markus, Chong, Anita S., Tullius, Stefan G.

Journal:

Transplantation Journal

Year:

2014

Language:

english

File:

PDF, 994 KB

english, 2014

39

Tsc1+ and tsc2+ Regulate Arginine Uptake and Metabolism in Schizosaccharomyces pombe

van Slegtenhorst, M., Carr, E., Stoyanova, R., Kruger, W. D., Henske, E. P.

Journal:

Journal of Biological Chemistry

Year:

2004

Language:

english

File:

PDF, 909 KB

english, 2004

40

Pas1, a G1 cyclin, regulates amino acid uptake and rescues a delay in G1 arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe

van Slegtenhorst, M.

Journal:

Human Molecular Genetics

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

41

Differential regulation of leucine-rich primary response gene 1 (LRPR1) mRNA expression in rat testis and ovary

Slegtenhorst-Eegdeman, K.

Journal:

Molecular Human Reproduction

Year:

1998

Language:

english

File:

PDF, 247 KB

english, 1998

42

PATIENTS WITH GENOTYPE-POSITIVE HYPERTROPHIC CARDIOMYOPATHY ARE AT INCREASED RISK OF HEART FAILURE RELATED DEATH

van Velzen, H.G., Vriesendorp, P.A., Oldenburg, R.A., van Slegtenhorst, M.A., Schinkel, A.F.L., Michels, M.

Journal:

Journal of the American College of Cardiology

Year:

2015

Language:

english

File:

PDF, 450 KB

english, 2015

43

Characterization of the Cytosolic Tuberin-Hamartin Complex: TUBERIN IS A CYTOSOLIC CHAPERONE FOR HAMARTIN

Nellist, M., van Slegtenhorst, M. A., Goedbloed, M., van den Ouweland, A. M. W., Halley, D. J. J., van der Sluijs, P.

Journal:

Journal of Biological Chemistry

Year:

1999

Language:

english

File:

PDF, 745 KB

english, 1999

44

The Birt-Hogg-Dube and Tuberous Sclerosis Complex Homologs Have Opposing Roles in Amino Acid Homeostasis in Schizosaccharomyces pombe

van Slegtenhorst, M., Khabibullin, D., Hartman, T. R., Nicolas, E., Kruger, W. D., Henske, E. P.

Journal:

Journal of Biological Chemistry

Year:

2007

Language:

english

File:

PDF, 886 KB

english, 2007

45

Contractile Dysfunction Irrespective of the Mutant Protein in Human Hypertrophic Cardiomyopathy With Normal Systolic Function

van Dijk, S. J., Paalberends, E. R., Najafi, A., Michels, M., Sadayappan, S., Carrier, L., Boontje, N. M., Kuster, D. W. D., van Slegtenhorst, M., Dooijes, D., dos Remedios, C., ten Cate, F. J., Stien

Journal:

Circulation Heart Failure

Year:

2012

Language:

english

File:

PDF, 1.91 MB

english, 2012

46

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

Slegtenhorst, Marjon A.van, T.Bassl, Maria, Borsanil, Gluseppe, Wapenaar, Martin C., Ferrero, Giovanni B., de Concillls, Lisa, Rugarli, Elena I., Grillo, Alessandra, Franco, Brunella, Y.Zoghbl, Huda,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.24 MB

english, 1994

47

Macroorchidism in FMR1 Knockout Mice Is Caused by Increased Sertoli Cell Proliferation during Testicular Development 1

Slegtenhorst-Eegdeman, Karin E., de Rooij, Dirk G., Verhoef-Post, Miriam, van de Kant, Henk J. G., Bakker, Cathy E., Oostra, Ben A., Grootegoed, J. Anton, Themmen, Axel P. N.

Journal:

Year:

1998

Language:

english

File:

PDF, 416 KB

english, 1998

48

Molecular and cellular events in spermatogenesis

Grootegoed, J.A., Baarends, W. M., Hendriksen, P. J.M., Hoogerbrugge, J. W., Slegtenhorst-Eegdeman, K. E., Themmen, A. P.N.

Journal:

Human Reproduction

Year:

1995

Language:

english

File:

PDF, 379 KB

english, 1995

49

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Mancini, G. M. S., Schot, R., de Wit, M. C. Y., de Coo, R. F., Oostenbrink, R., Berger, L. P. V., Lequin, M. H., de Vries, F. A. T., Wilke, M., van Slegtenhorst, M. A.

Journal:

Year:

2016

Language:

english

File:

PDF, 295 KB

english, 2016

50

Follow-up of patients with genotype positive-phenotype negative hypertrophic cardiomyopathy

Vriesendorp, P. A., Schinkel, A. F. L., Van Slegtenhorst, M. A., Wessels, M. W., Ten Cate, F. J., Michels, M.

Journal:

European Heart Journal

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013