Sistermans, E A: search on Z-Library

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1

Apraxia in Mild Cognitive Impairment and Alzheimer's Disease: Validity and Reliability of the Van Heugten Test for Apraxia

Smits, Lieke L., Flapper, Marinke, Sistermans, Nicole, Pijnenburg, Yolande A.L., Scheltens, Philip, van der Flier, Wiesje M.

Journal:

Dementia and Geriatric Cognitive Disorders

Year:

2014

Language:

english

File:

PDF, 686 KB

english, 2014

2

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Louwersheimer, Eva, Cohn-Hokke, Petra E., Pijnenburg, Yolande A.L., Weiss, Marjan M., Sistermans, Erik A., Rozemuller, Annemieke J., Hulsman, Marc, van Swieten, John C., van Duijn, Cock M., Barkhof, F

Journal:

Journal of Alzheimer's Disease

Year:

2017

Language:

english

File:

PDF, 386 KB

english, 2017

3

Integrating competency-based education with a case-based or problem-based learning approach in online health sciences

Sistermans, Ilse Johanna

Journal:

Asia Pacific Education Review

Year:

2020

File:

PDF, 717 KB

2020

4

Benefit vs potential harm of genomeâwide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data

Bekker, M. N., Henneman, L., Macville, M. V. E., Sistermans, E. A., Galjaard, R. J. H.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2020

File:

PDF, 63 KB

2020

5

Association of intestinal disorders in cats with findings of abdominal radiography

Adams, William M., Sisterman, Laura A., Klauer, Julia M., Kirby, Barbara M., Lin, Ting-Li

Journal:

Journal of the American Veterinary Medical Association

Year:

2010

Language:

english

File:

PDF, 572 KB

english, 2010

6

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Kari

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 428 KB

english, 2019

7

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Palomaki, Glenn E., Chiu, Rossa W.K., Pertile, Mark D., Sistermans, Erik A., Yaron, Yuval, Vermeesch, Joris Robert, Vora, Neeta L., Best, Robert G., WilkinsâHaug, Louise

Journal:

Prenatal Diagnosis

Year:

2020

File:

PDF, 1.13 MB

2020

8

Trajectories of cognitive decline in different types of dementia

Smits, L. L., van Harten, A. C., Pijnenburg, Y. A. L., Koedam, E. L. G. E., Bouwman, F. H., Sistermans, N., Reuling, I. E. W., Prins, N. D., Lemstra, A. W., Scheltens, P., van der Flier, W. M.

Journal:

Psychological Medicine

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

9

Complete sequence analysis of the A*1103 allele

H.J. Tijssen, E.A. Sistermans, M. Van Den Beucken, P. Krausa, I. Joosten

Journal:

Tissue Antigens

Year:

2000

Language:

english

File:

PDF, 61 KB

english, 2000

10

Spinal phenotype of cerebrotendinous xanthomatosis

D. Bartholdi, D. Zumsteg, A. Verrips, R.A. Wevers, E. Sistermans, K. Hess, H.H. Jung

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 265 KB

english, 2004

11

The trajectory of cognitive decline in preclinical dementia in people attending a memory clinic: The 4C-MCI study

Hamel, Renske, Koehler, Sebastian, Sistermans, Nicole, Van der Flier, Wiesje, Visser, Pieter Jelle, Aalten, Pauline, Scheltens, Philip, Verhey, Frans R.J., Ramakers, Inez

Journal:

Alzheimer's & Dementia

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

12

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 495 KB

english, 2012

13

Guidelines for diagnostic next-generation sequencing

Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffe

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

14

TRAJECTORIES OF COGNITIVE DECLINE IN VARIOUS TYPES OF DEMENTIA

Smits, Lieke, Corien van Harten, Argonde, Pijnenburg, Yolande, Koedam, Esther, Sistermans, Nicole, Roos-Reuling, Ilona, Prins, Niels, Lemstra, Evelien, Scheltens, Philip, van der Flier, Wiesje M.

Journal:

Alzheimer's & Dementia

Year:

2014

Language:

english

File:

PDF, 53 KB

english, 2014

15

Multi-faceted analysis provides little evidence for recurrent whole-genome duplications during hexapod evolution

Roelofs, Dick, Zwaenepoel, Arthur, Sistermans, Tom, Nap, Joey, Kampfraath, Andries A., Van de Peer, Yves, Ellers, Jacintha, Kraaijeveld, Ken

Journal:

Year:

2020

File:

PDF, 883 KB

2020

16

[BMJ Publishing Group Ltd ESGO Annual Meeting Abstracts - ()] Poster exhibition Day 1 - P57âValue of circulating tumor DNA in the differentiation between malignant and benign ovarian tumors

Lof, P, Sistermans, EA, Wessels, L, Amant, F, van den Broek, D, Mom, CH, Hemelaar, M, van Baal, WM, Verbruggen, M, Rosier - van DunnÃ©, F, Hermsen, B, Horlings, HM, Lok, CAR

File:

PDF, 66 KB

17

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

Kleefstra, Tjitske, Yntema, Helger G, Nillesen, Willy M, Oudakker, Astrid R, Mullaart, Reinier A, Geerdink, Niels, van Bokhoven, Hans, de Vries, Bert B A, Sistermans, Erik A, Hamel, Ben C J

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

18

Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsia

Oudejans, C. B. M., Michel, O. J., Janssen, R., Habets, R., Poutsma, A., Sistermans, E. A., Weiss, M. M., Incarnato, D., Oliviero, S., Kleiverda, G., Van Dijk, M., Arngrimsson, R.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 717 KB

english, 2015

19

L1 retrotransposition can occur early in human embryonic development

van den Hurk, J. A.J.M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., de Jong, P. T.V.M., Kazazian

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 356 KB

english, 2007

20

Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy

Schuelke, M., Finckh, B., Sistermans, E. A., Ausems, M. G. E. M., Hubner, C., von Moers, A.

Journal:

Year:

2000

Language:

english

File:

PDF, 647 KB

english, 2000

21

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.97 MB

english, 2017

22

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

23

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Ni

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 293 KB

english, 2013

24

Slow gait speed and low grip strength are related to worse attention and mental speed in patients with subjective cognitive decline and mild cognitive impairment

Hooghiemstra, Astrid M., Ramakers, Inez H.G.B., Sistermans, Nicole, Pijnenburg, Yolande A.L., Aalten, Pauline, Hamel, Renske E.G., Melis, René J.F., Verhey, Frans R.J., Olde Rikkert, Marcel G.M., Sche

Journal:

Alzheimer's & Dementia

Year:

2015

Language:

english

File:

PDF, 108 KB

english, 2015

25

Cerebrotendinous xanthomatosis: report of two Brazilian brothers

Lange, Marcos Christiano, Zétola, Viviane Flumignan, Teive, Helio A.G., Scola, Rosana H., Trentin, Ana Paula, Zavala, Jorge A., Pereira, Eduardo R., Raskin, Salmo, Werneck, Lineu C., Sistermans, Erik

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2004

Language:

english

File:

PDF, 130 KB

english, 2004

26

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

Hestand, Matthew S., Bessem, Mark, van Rijn, Peter, de Menezes, Renee X., Sie, Daoud, Bakker, Ingrid, Boon, Elles M. J., Sistermans, Erik A., Weiss, Marjan M.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 789 KB

english, 2018

27

Novel mutation in theSPASTgene in a patient with spastic paraparesis

M. D. I. Vergouwen, E. A. Sistermans, F. Baas, J. H. Koelman, M. de Visser

Journal:

Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 231 KB

english, 2008

28

Tissue- and cell-specific distribution of creatine kinase B: A new and highly specific monoclonal antibody for use in immunohistochemistry

Erik A. Sistermans, Yvette J. M. Kok, Wilma Peters, Leo A. Ginsel, Paul H. K. Jap, Bé Wieringa

Journal:

Cell and Tissue Research

Year:

1995

Language:

english

File:

PDF, 3.23 MB

english, 1995

29

Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations

Rubin D.L. Hundscheid, Erik A. Sistermans, Chris M.G. Thomas, Didi D.M. Braat, Huub Straatman, Lambertus A.L.M. Kiemeney, Ben A. Oostra, Arie P.T. Smits

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

30

[American Society of Civil Engineers Fourth Conference on Coastal Dynamics - Lund, Sweden (June 11-15, 2001)] Coastal Dynamics '01 - Multi-Fraction Net Sediment Transports by Irregular Waves and a Current

Sistermans, Paul G. J.

Year:

2001

Language:

english

File:

PDF, 449 KB

english, 2001

31

Response to letter to the editor PD-17-0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”

van Beek, Daphne M., Straver, Roy, Weiss, Marjan M., Boon, Elles M.J., Huijsdens-van Amsterdam, Karin, Oudejans, Cees B.M., Reinders, Marcel J.T., Sistermans, Erik A.

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 538 KB

english, 2017

32

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M., Sistermans, E. A.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 882 KB

english, 2010

33

Recommended practice for laboratory reporting of non-invasive prenatal testing ( NIPT) of trisomies 13, 18 and 21: a consensus opinion

Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Hastings, Ros J., Mann, Kathy, Patton, Simon J., Sistermans, Erik A., Chitty, Lyn S.

Journal:

Prenatal Diagnosis

Year:

2017

Language:

english

File:

PDF, 586 KB

english, 2017

34

Cancer Rehabilitation

Swenson, Karen K., Nissen, Mary Jo, Knippenberg, Kathryn, Sistermans, Annemiek, Spilde, Paul, Bell, Elaine M., Nissen, Julia, Chen, Cathleen, Tsai, Michaela L.

Journal:

Year:

2014

Language:

english

File:

PDF, 143 KB

english, 2014

35

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Du

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.62 MB

english, 2016

36

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

Paff, T., Kooi, I. E., Moutaouakil, Y., Riesebos, E., Sistermans, E. A., Daniels, J. M. A., Weiss, M. M., Niessen, H. W. M., Haarman, E. G., Pals, G., Micha, D.

Journal:

Year:

2018

Language:

english

File:

PDF, 1.73 MB

english, 2018

37

Automatic stabilization of inspiratory oxygen pressure and endexpiratory carbon dioxide pressure in a closed spirometer system

H. Th. Folgering, J. A. Bernards, J. F. Sistermans, B. Michels

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1974

Language:

english

File:

PDF, 375 KB

english, 1974

38

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Stikkelbroeck, Nike M. M. L., Hoefsloot, Lies H., de Wijs, Ilse J., Otten, Barto J., Hermus, Ad R. M. M., Sistermans, Erik A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2003

Language:

english

File:

PDF, 113 KB

english, 2003

39

The influence of severity of total comorbidity on cognitive decline and conversion to dementia in memory clinic visitors

Hamel, Renske E.G., Ramakers, Inez H.G.B., Oosterveld, Saskia M., Melis, René J.F., Olde Rikkert, Marcel G.M., Sistermans, Nicole, van der Flier, Wiesje M., Scheltens, Philip, Aalten, Pauline, Jansen,

Journal:

Alzheimer's & Dementia

Year:

2015

Language:

english

File:

PDF, 68 KB

english, 2015

40

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, Rintu J. Jacob, Renu Saxena, Anil Jalan, Eric A. Sistermans, Saqib Mahmood, Ishwar Chander Verma

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

41

A mitochondrial tRNAVal gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

de Coo, I. F. M., Sistermans, E. A., de Wijs, I. J., Catsman-Berrevoets, C., Busch, H. F. M., Scholte, H. R., de Klerk, J. B. C., van Oost, B. A., Smeets, H. J. M.

Journal:

Year:

1998

Language:

english

File:

PDF, 501 KB

english, 1998

42

Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles

Straver, Roy, Oudejans, Cees B. M., Sistermans, Erik A., Reinders, Marcel J. T.

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 2.57 MB

english, 2016

43

Holoprosencephaly and preaxial polydactyly associated with a 1.24

David A. Koolen, Jos Herbergs, Joris A. Veltman, Rolph Pfundt, Hans van Bokhoven, Hans Stroink, Erik A. Sistermans, Han G. Brunner, Ad Geurts van Kessel, Bert B. A. de Vries

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 298 KB

english, 2006

44

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Hobson, G. M., Davis, A. P., Stowell, N. C., Kolodny, E. H., Sistermans, E. A., de Coo, I. F. M., Funanage, V. L., Marks, H. G.

Journal:

Year:

2000

Language:

english

File:

PDF, 622 KB

english, 2000

45

THE INFLUENCE OF COMORBIDITIES ON COGNITIVE DECLINE AND CONVERSION TO DEMENTIA IN PATIENTS WITH MILD COGNITIVE IMPAIRMENT

Hamel, Renske, Ramakers, Inez, Oosterveld, Saskia, Melis, René J.F., Rikkert, Marcel Olde, Sistermans, Nicole, Van der Flier, Wiesje M., Scheltens, Philip, Visser, Pieter Jelle, Aalten, Pauline, Koehl

Journal:

Alzheimer's & Dementia

Year:

2014

Language:

english

File:

PDF, 56 KB

english, 2014

46

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population

Sistermans, Erik A, de Coo, René FM, van Beerendonk, Hetty M, Poll-The, Bwee Tien, Kleijer, Wim J, van Oost, Bernard A

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 160 KB

english, 2000

47

The trajectory of cognitive decline in the pre-dementia phase in memory clinic visitors: findings from the 4C-MCI study

Hamel, R., Köhler, S., Sistermans, N., Koene, T., Pijnenburg, Y., van der Flier, W., Scheltens, P., Aalten, P., Verhey, F., Visser, P. J., Ramakers, I.

Journal:

Psychological Medicine

Year:

2015

Language:

english

File:

PDF, 270 KB

english, 2015

48

Guidelines for diagnostic next-generation sequencing

Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffe

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 53 KB

english, 2016

49

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

Tjitske Kleefstra, David A. Koolen, Willy M. Nillesen, Nicole de Leeuw, Ben C.J. Hamel, Joris A. Veltman, Erik A. Sistermans, Hans van Bokhoven, Conny van Ravenswaay, Bert B.A. de Vries

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 375 KB

english, 2006

50

A unique second donor splice site in the intron 5 sequence of the HLA-A*11 alleles results in a class I transcript encoding a molecule with an elongated cytoplasmic domain

H.J. Tijssen, E.A. Sistermans, I. Joosten

Journal:

Tissue Antigens

Year:

2000

Language:

english

File:

PDF, 453 KB

english, 2000

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