The FMR1 Gene and Fragile X-Associated Tremor/Ataxia Syndrome

Yazar: Brouwer, J.R., Willemsen, R., Oostra, B.A.
Yayımlandı Am J Med Genet B Neuropsychiatr Genet (2009)

Chest pain triage: gut feeling or protocol-based care?

Yazar: Willemsen, R. T. A., van ’t Hof, A. W. J.
Yayımlandı Neth Heart J (2021)

Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

Yazar: Willemsen, R., Olmer, R., Otero, Y. D., Oostra, B.
Baskı/Yayın Bilgisi 2000

Hepatic lipase is localized at the parenchymal cell microvilli in rat liver.

Yazar: Breedveld, B, Schoonderwoerd, K, Verhoeven, A J, Willemsen, R, Jansen, H
Baskı/Yayın Bilgisi 1997

Competence of general practitioners in requesting and interpreting ECGs - a case vignette study

Yazar: Compiet, S. A. M., Willemsen, R. T. A., Konings, K. T. S., Stoffers, H. E. J. H.
Yayımlandı Neth Heart J (2018)

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

Yazar: Reuser, A J, Kroos, M, Willemsen, R, Swallow, D, Tager, J M, Galjaard, H
Baskı/Yayın Bilgisi 1987

Interpretations of and management actions following electrocardiograms in symptomatic patients in primary care: a retrospective dossier study

Yazar: Wagenvoort, L. M. E., Willemsen, R. T. A., Konings, K. T. S., Stoffers, H. E. J. H.
Yayımlandı Neth Heart J (2019)

Interpretations of and management actions following ECGs in programmatic cardiovascular care in primary care: A retrospective dossier study

Yazar: Van den Nieuwenhof, N., Willemsen, R. T. A., Konings, K. T. S., Stoffers, H. E. J. H.
Yayımlandı Neth Heart J (2020)

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.

Yazar: Van der Ploeg, A T, Kroos, M A, Willemsen, R, Brons, N H, Reuser, A J
Baskı/Yayın Bilgisi 1991

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

Yazar: Zhou, X Y, Galjart, N J, Willemsen, R, Gillemans, N, Galjaard, H, d'Azzo, A
Baskı/Yayın Bilgisi 1991

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

Yazar: Willemsen, R, Los, F, Mohkamsing, S, van den Ouweland, A, Deelen, W, Galjaard, H, Oostra, B
Baskı/Yayın Bilgisi 1997

Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis

Yazar: Willemsen, R, Smits, A, Severijnen, L, Jansen, M, Jacobs, A, De Bruyn, E, Oostra, B
Baskı/Yayın Bilgisi 2003

Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome

Yazar: Brouwer, JR, Severijnen, E, de Jong, FH, Hessl, D, Hagerman, RJ, Oostra, BA, Willemsen, R
Yayımlandı Psychoneuroendocrinology (2008)

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

Yazar: de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Baskı/Yayın Bilgisi 2003

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

Yazar: d Helderman-van, Maaswinkel-Mooij, P, Hoogendoorn, E, Willemsen, R, Maat-Kievit, J, Losekoot, M, Oostra, B
Baskı/Yayın Bilgisi 1999

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

Yazar: de Graaff, E, Willemsen, R, Zhong, N, de Die-Smulders, C E, Brown, W T, Freling, G, Oostra, B
Baskı/Yayın Bilgisi 1995

Genes, pathways, and animal models in primary open-angle glaucoma

Yazar: Iglesias, A I, Springelkamp, H, Ramdas, W D, Klaver, C C W, Willemsen, R, van Duijn, C M
Yayımlandı Eye (Lond) (2015)

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease typ...

Yazar: Hermans, M M, de Graaff, E, Kroos, M A, Wisselaar, H A, Willemsen, R, Oostra, B A, Reuser, A J
Baskı/Yayın Bilgisi 1993

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

Yazar: Brouwer, JR, Mientjes, EJ, Bakker, CE, Nieuwenhuizen, IM, Severijnen, LA, Van der Linde, H, Nelson, DL, Oostra, BA, Willemsen, R
Baskı/Yayın Bilgisi 2006

Proteomics investigation identifies prominent changes in synapse-related proteins in a fragile X mouse model

Yazar: Broek, Jantine AC, Lin, Z, Van't Spijker, H, Ozcan, S, De Gruiter, HM, Haasdijk, ED, Willemsen, R, De Zeeuw, CI, Bahn, S
Yayımlandı BMC Neurosci (2015)