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101

Clinical and neuropathological features of a family with hereditary frontotemporal dementia without tau mutations

Sonia M. Rosso, Martijn Stevens, Rivka Ravid, Wouter Kamphorst, Martinus F. Niermeijer, John C. van Swieten

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 191 KB

english, 2000

102

748 Frontal lobe dementia; linkage to chromosome 17 in two large Dutch families

M. Stevens, J.C. v Swieten, M.F. Niermeijer, A. Tibben, B.A. Oostra, P. Heutink

Journal:

Neurobiology of Aging

Year:

1996

Language:

english

File:

PDF, 146 KB

english, 1996

103

Mutations in the BRCA1 and BRCA2 genes: Uptake of presymptomatic DMA test, preventive choices and breast cancer risk after prophylactic mastectomy

Hanne Meijers-Heijboer, Leon Verhoog, Cecile Brekelmans, Bert van Geel, Caroline Seynaeve, Anja Wagner, Ans van den Ouweland, Petra Frets, Martinus Niermeijer, Jan Klijn

Journal:

European Journal of Cancer

Year:

1998

Language:

english

File:

PDF, 152 KB

english, 1998

104

Presymptomatic testing for hereditary breast/ovarian cancer (HBOC): Is there psychological distress in the pre-test period?

L.N. Lodder, P.G. Frets, R.W. Trijsburg, A.C. Dudok de Wit, A. Tibben, E.J. Meijers-Heijboiar, J.G.M. Klijn, C. Seynaeve, M.F. Niermeijer

Journal:

European Journal of Cancer

Year:

1998

Language:

english

File:

PDF, 157 KB

english, 1998

105

Preimplantation genetic diagnosis for cancer

Martinus F Niermeijer, Guido de Wert, Wybo Dondorp

Journal:

The Lancet Oncology

Year:

2006

Language:

english

File:

PDF, 81 KB

english, 2006

106

Cancer Genetics and Insurance

M.F. Niermeijer

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 31 KB

english, 1999

107

High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands

Patrizia Rizzu, John C. Van Swieten, Marijke Joosse, Masato Hasegawa, Martijn Stevens, Aad Tibben, Martinus F. Niermeijer, Marcel Hillebrand, Rivka Ravid, Ben A. Oostra, Michel Goedert, Cornelia M. va

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 167 KB

english, 1999

108

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Bert B.A. de Vries, Willem F.M. Arts, Guido J. Breedveld, Jeannette J.M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

109

Genetic counselling before intracytoplasmic sperm injection

PA In't Veld, DJJ Halley, JO van Hemel, MF Niermeijer, G Dohle, RFA Weber

Journal:

Year:

1997

Language:

english

File:

PDF, 49 KB

english, 1997

110

Effect on a Dutch family of predictive DNA-testing for hereditary breast and ovarian cancer

A.C. Dudok de Wit, E.J. Meijers-Heijboer, A. Tibben, P.G. Frets, J.G.M. Klijn, P. Devilee, M.F. Niermeijer

Journal:

Year:

1994

Language:

english

File:

PDF, 161 KB

english, 1994

111

Preliminary experience with predictive testing for insulin-dependent diabetes mellitus

A. Wagner, A. Tibben, G.J. Bruining, H.J. Aanstoot, I. Tiems, M.J.C.E. Blondeau, M.F. Niermeijer

Journal:

Year:

1995

Language:

english

File:

PDF, 329 KB

english, 1995

112

IS HIGH-RESOLUTION ARRAY-BASED COMPARATIVE GENOMIC HYBRIDISATION ABLE TO PICK UP GERMLINE GENOMIC ABERRATIONS IN HEREDITARY BLADDER CANCER?

L.A. Kiemeney, R.P. Kuiper, R. Pfundt, S. Van Reijmersdal, M.P. Schoenberg, K.A. Aben, M.F. Niermeijer, J.A. Witjes, E.F.P.M. Schoenmakers

Journal:

European Urology Supplements

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

113

Reproductive planning after genetic counselling: a perspective from the last decade

Petra G. Frets, Martinus F. Niermeijer

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 871 KB

english, 1990

114

Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells

Marilyn J. Heukels-Dully, M.F. Niermeijer

Journal:

Experimental Cell Research

Year:

1976

Language:

english

File:

PDF, 709 KB

english, 1976

115

Psychological consequences of presymptomatic testing for Huntington's disease

A Tibben, RAC Roos, MF Niermeijer

Journal:

Year:

1997

Language:

english

File:

PDF, 38 KB

english, 1997

116

Perinatal necropsy by magnetic resonance imaging

Journal:

Year:

1997

Language:

english

File:

PDF, 18 KB

english, 1997

117

Prenatal diagnosis of sialidosis with combined neuraminidase and ø-galactosidase deficiency

W. J. Kleijer, A. Hoogeveen, F. W. Verheijen, M. F. Niermeijer, H. Galjaard, J. S. O'Brien, T. G. Warner

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 138 KB

english, 1979

118

Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus

W. J. KLEIJER, P. D. MOOY, I. LIEBAERS, J. J. P. VAN DE KAMP, M. F. NIERMEIJER

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 285 KB

english, 1979

119

Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay

D. A. Aitken, W. J. Kleijer, M. F. Niermeijer, E. Herbschleb-Voogt, H. Galjaard

Journal:

Clinical Genetics

Year:

1980

Language:

english

File:

PDF, 409 KB

english, 1980

120

Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

M. C. B. Loonen, A. W. Schram, J. F. Koster, M. F. Niermeijer, H. F. M. Busch, J. J. Martin, B. Brouwer-Kelder, W. Mekes, R. G. Slee, J. M. Tager

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 538 KB

english, 1981

121

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

J. J. P. VAN DE Kamp, M. F. Niermeijer, K. VON Figura, M. A. H. Giesberts

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 627 KB

english, 1981

122

The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance

M. J. VAN DE VOOREN, M. F. NIERMEIJER, A. J. M. HOOGEBOOM

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 451 KB

english, 1983

123

Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting

Johan F. Jongkind, Anton Verker, Martinus F. Niermeijer

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 333 KB

english, 1983

124

Approaches to Genetic Counseling

D. LINDHOUT, P. G. FRETS, M. F. NIERMEIJER

Journal:

Annals of the New York Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 460 KB

english, 1991

125

Caregiver Burden, Health-Related Quality of Life and Coping in Dementia Caregivers: A Comparison of Frontotemporal Dementia and Alzheimer’s Disease

Riedijk, S.R., De Vugt, M.E., Duivenvoorden, H.J., Niermeijer, M.F., Van Swieten, J.C., Verhey, F.R.J., Tibben, A.

Journal:

Dementia and Geriatric Cognitive Disorders

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

126

Anti- TPO detectable in children with encephalopathy: diagnostic marker or a chance finding?

B Dontje, JM Niermeijer, D Schonenberg…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

127

Pyridoxin dependent epilepsy: Clinical features and progressive serial MRI abnormalities

J.M.F. Niermeijer, N.G. Abeling, J.H. Koelman…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

128

Manifestation, clinical course and genotype/phenotype correlation of Charcot-Marie-Tooth disease in a cohort of children

L. Rustenburg, J.M.F. Niermeijer, F. van Ruissen…

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

129

ANTICIPATION IN MYOTONIC DYSTROPHY: FACT OR FICTION?

HÖWELER, C. J., BUSCH, H. F. M., GERAEDTS, J. P. M., NIERMEIJER, M. F., STAAL, A.

Journal:

Year:

1989

Language:

english

File:

PDF, 916 KB

english, 1989

130

ETIOLOGICAL STUDIES OF SEVERE OR FAMILIAL HYPOSPADIAS

BOEHMER, ANNEMIE L.M., NIJMAN, RIEN J.M., LAMMERS, BRIGITTE A.S., DE CONINCK, SJEF J.F., VAN HEMEL, JAN O., THEMMEN, AXEL P.N., MUREAU, MARC A.M., DE JONG, FRANK H., BRINKMANN, ALBERT O., NIERMEIJER,

Journal:

The Journal of Urology

Year:

2001

Language:

english

File:

PDF, 292 KB

english, 2001

131

Computer assistance in the practice of internal medicine

Journal:

The Netherlands Journal of Medicine

Year:

1995

Language:

english

File:

PDF, 425 KB

english, 1995

132

UNIVERSITY OF EDINBURGH.

Journal:

Year:

1894

Language:

english

File:

PDF, 478 KB

english, 1894

133

Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia

Caan, Matthan W.A., Barth, Peter G., Niermeijer, Jikke-Mien, Majoie, Charles B., Poll-The, Bwee Tien

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.17 MB

english, 2014

134

Prenatal ultrasonographic diagnosis of osteogenesis imperfecta

Brons, Jozien T.J., van der Harten, Hans J., Wladimiroff, Juri W., van Geijn, Herman P., Dijkstra, Piet F., Exalto, Niek, Reuss, Annette, Niermeijer, Martinus F., Meijer, Chris J.L.M., Arts, Nico F.Th

Journal:

American Journal of Obstetrics and Gynecology

Year:

1988

Language:

english

File:

PDF, 809 KB

english, 1988

135

Testing for Huntington's disease with support for all parties

Tibben, A., VEGTER-V.D.VLIS, M., Niermeijer, M.F., Kamp, J.J.P.V.D., Roos, R.A.C., Rooijmans, H.G.M., Frets, P.G., Verhage, F.

Journal:

Year:

1990

Language:

english

File:

PDF, 169 KB

english, 1990

136

Prenatal diagnosis and management of omphalocele

Wladimiroff, J.W., Molenaar, J.C., Niermeijer, M.F., Stewart, P.A., Van Eyck, J.

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

1983

Language:

english

File:

PDF, 375 KB

english, 1983

137

Fetal hydrocephaly: Diagnosis, prognosis and management

van Egmond-Linden, A., Wladimiroff, J.W., Niermeijer, M.F., Stewart, P.A.

Journal:

Ultrasound in Medicine & Biology

Year:

1986

Language:

english

File:

PDF, 628 KB

english, 1986

138

Understanding the low uptake of presymptomatic DNA testing for Huntington's disease

Tibben, A, Niermeijer, M.F, Roos, R.A.C, Van De Vlis, M.Vegter, Frets, P.G, Van Ommen, G.J.B, Van De Kamp, J.J.P, Verhage, F

Journal:

Year:

1992

Language:

english

File:

PDF, 172 KB

english, 1992

139

CLINICAL EVIDENCE FOR LOCALISATION OF HLA PROXIMAL OF CHROMOSOME 6p22

Sachs, E.S., Hoogeboom, A.J.M., Niermeijer, M.F., Schreuder, G.M.Th

Journal:

Year:

1983

Language:

english

File:

PDF, 157 KB

english, 1983

140

PRENATAL DIAGNOSIS OF MAROTEAUX-LAMY SYNDROME

Kleijer, W.J., Wolffers, G.M., Hoogeveen, A., Niermeijer, M.F.

Journal:

Year:

1976

Language:

english

File:

PDF, 151 KB

english, 1976

141

O51 – 2115 Clinical presentation and genetic causes of Charcot Marie Tooth disease in a paediatric cohort

Niermeijer, JMF, Rustenburg, L, Van Ruissen, F, Verhamme, C, Baas, F, Poll-The, BT

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 83 KB

english, 2013

142

PRENATAL DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE A USING CHROMOGENIC SUBSTRATE

Patrick, A.D., Young, Elisabeth, Kleijer, W.J., Niermeijer, M.F.

Journal:

Year:

1977

Language:

english

File:

PDF, 164 KB

english, 1977

143

FIRST TRIMESTER CHROMOSOMAL ANALYSIS OF COMPLEX STRUCTURAL REARRANGEMENTS WITH RHA BANDING ON CHORIONIC VILLI

Sachs, E.S., Van Hemel, J.O., Galjaard, H., Niermeijer, M.F., Jahoda, M.G.J.

Journal:

Year:

1983

Language:

english

File:

PDF, 194 KB

english, 1983

144

Fc receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy

Stork, A. C. J., Notermans, N. C., van den Berg, L. H., Schellevis, R. D., Niermeijer, J.-M. F., Nederend, M., Leusen, J. H. W., van der Pol, W.-L.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2014

Language:

english

File:

PDF, 188 KB

english, 2014

145

Who is prone to high levels of distress after prophylactic mastectomy and/or salpingo-ovariectomy?

Bresser, P. J. C., Van Gool, A. R., Seynaeve, C., Duivenvoorden, H. J., Niermeijer, M. F., van Geel, A. N., Menke, M., Klijn, J. G. M., Tibben, A.

Journal:

Annals of Oncology

Year:

2007

Language:

english

File:

PDF, 79 KB

english, 2007

146

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

Van Hemel, J O, Schaap, C, Van Opstal, D, Mulder, M P, Niermeijer, M F, Meijers, J H

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 434 KB

english, 1995

147

17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations 1

Boehmer, Annemie L. M., Brinkmann, Albert O., Sandkuijl, Lodewijk A., Halley, Dicky J. J., Niermeijer, Martinus F., Andersson, Stefan, de Jong, Frank H., Kayserili, Hülya, de Vroede, Monique A., Otten

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 1.58 MB

english, 1999

148

Follow-Up Study in a Family with Dominant Progressive Hereditary Sensorineural Hearing Impairment II. Clinical Aspects

van den Wijngaart, W.S.I.M., Huizing, E. H., Niermeijer, M. F., Verschuure, J., Brocaar, M. P., Blom, W.

Journal:

International Journal of Audiology

Year:

1985

File:

PDF, 127 KB

1985

149

Thermotolerance induced by heat and ethanol

Boon-niermeijer, Elida K., Souren, Jan E. M., De Waal, Adrienne M., Wijk, Roeland van

Journal:

International Journal of Hyperthermia

Year:

1988

Language:

english

File:

PDF, 876 KB

english, 1988

150

Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.

Tibben, A, Stevens, M, de Wert, G M, Niermeijer, M F, van Duijn, C M, van Swieten, J C

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.96 MB

english, 1997