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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

Transient effects in superfluid turbulence

R.P Slegtenhorst, G Marees, H van Beelen

Journal:

Year:

1982

Language:

english

File:

PDF, 850 KB

english, 1982

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

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

41

Left ventricular outflow tract gradient is associated with reduced capillary density in hypertrophic cardiomyopathy irrespective of genotype

Güçlü, Ahmet, Happé, Chris, Eren, Seyma, Korkmaz, Ibrahim H., Niessen, Hans W. M., Klein, Patrick, van Slegtenhorst, Marjon, Schinkel, Arend F., Michels, Michelle, van Rossum, Albert C., Germans, Tjee

Journal:

European Journal of Clinical Investigation

Year:

2015

Language:

english

File:

PDF, 549 KB

english, 2015

42

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëll

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.71 MB

english, 2017

43

Delayed and decreased LV untwist and unstrain rate in mutation carriers for hypertrophic cardiomyopathy

Kauer, Floris, van Dalen, Bas M., Michels, Michelle, Schinkel, Arend F.L., Vletter, Wim B., van Slegtenhorst, Marjon, Soliman, Osama I.I., Geleijnse, Marcel L.

Journal:

European Heart Journal - Cardiovascular Imaging

Year:

2016

Language:

english

File:

PDF, 546 KB

english, 2016

44

YIELD AND LONG-TERM OUTCOME OF FAMILY SCREENING IN HYPERTROPHIC CARDIOMYOPATHY

Van Velzen, Hannah, Schinkel, Arend F.L., Oldenburg, Rogier A., van Slegtenhorst, Marjon A., Michels, Michelle

Journal:

Journal of the American College of Cardiology

Year:

2017

Language:

english

File:

PDF, 402 KB

english, 2017

45

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.71 MB

english, 2017

46

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck

Journal:

Netherlands Heart Journal

Year:

2017

Language:

english

File:

PDF, 534 KB

english, 2017

47

Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder

Harper, Callista B., Mancini, Grazia M.S., van Slegtenhorst, Marjon, Cousin, Michael A.

Journal:

Neurobiology of Disease

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

48

Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Naidu, Sakkubai, Desai, Sonal, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, M

Journal:

Biophysical Journal

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

49

Sex Differences at the Time of Myectomy in Hypertrophic Cardiomyopathy

Nijenkamp, Louise L.A.M., Bollen, Ilse A.E., van Velzen, Hannah G., Regan, Jessica A., van Slegtenhorst, Marjon, Niessen, Hans W.M., Schinkel, Arend F.L., Krüger, Martina, Poggesi, Corrado, Ho, Caroly

Journal:

Circulation Heart Failure

Year:

2018

Language:

english

File:

PDF, 846 KB

english, 2018

50

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

Deden, A.C., van Slegtenhorst, M.A., Ruijter, G.J.G., Schoonderwoerd, G.C., Huidekoper, H.H., Oussoren, E., Brooks, A.S., Demirdas, S.

Journal:

Clinica Chimica Acta

Year:

2018

Language:

english

File:

PDF, 130 KB

english, 2018