Published in Clin Genet on January 01, 1974
Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases. Can Med Assoc J (1975) 0.75
Adherence to protease inhibitor therapy and outcomes in patients with HIV infection. Ann Intern Med (2000) 23.10
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science (1985) 5.81
Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2001) 4.13
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet (2000) 3.73
Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology (1996) 3.54
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin Genet (1985) 2.96
Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat (1994) 2.44
Anticipation in myotonic dystrophy: fact or fiction? Brain (1989) 2.41
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci U S A (1982) 2.39
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature (1993) 2.36
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet (1997) 2.27
Rapid antibody test for fragile X syndrome. Lancet (1995) 2.22
[Familial forms of fronto-temporal dementia]. Ned Tijdschr Geneeskd (1995) 2.04
The fragile X syndrome. J Med Genet (1998) 2.00
European experience with prenatal diagnosis of congenital disease: a survey of 6121 cases. Cytogenet Cell Genet (1976) 1.89
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet (1999) 1.87
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet (1981) 1.84
Transabdominal fine needle biopsy from chorionic villi in the first trimester. Prenat Diagn (1984) 1.82
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Familial aggregation in frontotemporal dementia. Neurology (1998) 1.76
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. Cell (1988) 1.73
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet (1997) 1.59
Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain (2001) 1.59
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta (1990) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Trimodal low-dose X-ray tomography. Proc Natl Acad Sci U S A (2012) 1.55
Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy. Eur J Cancer (2004) 1.52
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet (1997) 1.49
FMRP is associated to the ribosomes via RNA. Hum Mol Genet (1996) 1.49
Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation. Am J Med Genet A (2003) 1.48
Use of ultrahigh frequency ventilation in patients with ARDS. A preliminary report. Chest (1993) 1.45
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest (1987) 1.45
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet (1996) 1.43
Does a cheaper mask save money? The cost of implementing a respiratory personal protective equipment program. Infect Control Hosp Epidemiol (1997) 1.42
Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations. Br J Dermatol (2014) 1.36
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. Hum Mol Genet (1999) 1.35
Quality of life in patients with human immunodeficiency virus infection: impact of social support, coping style and hopelessness. Int J STD AIDS (1999) 1.34
Predictive testing for Huntington disease: nonparticipants compared with participants in the Dutch program. Am J Hum Genet (1994) 1.34
Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization. Exp Cell Res (1974) 1.32
Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. J Med Genet (1979) 1.31
Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis (1995) 1.28
Presymptomatic DNA-testing for Huntington disease: pretest attitudes and expectations of applicants and their partners in the Dutch program. Am J Med Genet (1993) 1.25
Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its protective protein. Eur J Biochem (1985) 1.23
Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab (2001) 1.22
Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet (1983) 1.22
Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta (1983) 1.22
Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides. J Biol Chem (1989) 1.21
Biochemical, immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet (1978) 1.20
Genetics of paraoxonase. Ann Hum Genet (1981) 1.20
Frontotemporal dementia: behavioral symptoms and caregiver distress. Dement Geriatr Cogn Disord (2004) 1.19
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet (1994) 1.18
On attitudes and appreciation 6 months after predictive DNA testing for Huntington disease in the Dutch program. Am J Med Genet (1993) 1.18
First trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet (1983) 1.17
Genetic heterogeneity in human neuraminidase deficiency. Nature (1980) 1.16
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab (1999) 1.16
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup. J Med Genet (1997) 1.15
A prospective 10 year follow up study of patients with neurofibromatosis type 1. Arch Dis Child (1998) 1.13
Genetic heterogeneity in GM1-gangliosidosis. Nature (1975) 1.11
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. J Med Genet (1992) 1.11
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat (1997) 1.11
Combination therapy with ampicillin and daptomycin for treatment of Enterococcus faecalis endocarditis. Antimicrob Agents Chemother (2012) 1.10
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. J Med Genet (1996) 1.10
The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22. Hum Genet (1985) 1.10
Caregiver burden, health-related quality of life and coping in dementia caregivers: a comparison of frontotemporal dementia and Alzheimer's disease. Dement Geriatr Cogn Disord (2006) 1.10
Purification of acid beta-galactosidase and acid neuraminidase from bovine testis: evidence for an enzyme complex. Biochem Biophys Res Commun (1982) 1.10
Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet (2001) 1.09
Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants. Hum Genet (1980) 1.09
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol (1997) 1.09
The relation between human lysosomal beta-galactosidase and its protective protein. J Biol Chem (1983) 1.08
Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem (1983) 1.08
[Genetic carrier screening for hemoglobinopathies: the situation in the Netherlands compared with England]. Ned Tijdschr Geneeskd (1998) 1.08
Genetics of fourteen marker systems: associations and linkage relations. Acta Genet Stat Med (1966) 1.08
Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup. J Med Genet (1998) 1.08
Galactic and Extragalactic Studies: VII. Magnitudes of Forty Cepheids in the Large Magellanic Cloud. Proc Natl Acad Sci U S A (1940) 1.07
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer (2001) 1.07
Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet (1988) 1.06
Factors influencing the reproductive decision after genetic counseling. Am J Med Genet (1990) 1.06
Cloning a cDNA for the lysosomal alpha-glucosidase. Biochem Biophys Res Commun (1984) 1.06
Association of FMRP with ribosomal precursor particles in the nucleolus. Biochem Biophys Res Commun (1996) 1.05
delta-Aminolevulinatedehydrase: synteny with ABO-AK1-ORM (and assignment to chromosome 9). Clin Genet (1983) 1.05
Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16. Clin Genet (1989) 1.04
Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q. Eur J Hum Genet (1996) 1.03
Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency. Clin Genet (1979) 1.03
Prenatal diagnosis of fragile X syndrome. Lancet (1996) 1.03
Inhibition of prolyl hydroxylation and procollagen processing in chick-embryo calvaria by a derivative of pyridine-2,4-dicarboxylate. Characterization of the diethyl ester as a proinhibitor. Biochem J (1991) 1.03
BRCA1 in the family: a case description of the psychological implications. Am J Med Genet (1997) 1.03
Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group. J Med Genet (1999) 1.02
Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material. Clin Genet (1987) 1.02
Time-dependent inactivation of chick-embryo prolyl 4-hydroxylase by coumalic acid. Evidence for a syncatalytic mechanism. Biochem J (1987) 1.01
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. Biochem J (1999) 1.01