Published in Eur J Hum Genet on March 01, 2000
Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells (2013) 1.13
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. J Inherit Metab Dis (2004) 0.96
Molecular characterization of WFS1 in patients with Wolfram syndrome. J Mol Diagn (2003) 0.87
Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant. Nucleic Acids Res (2016) 0.75
Heterogeneity in telomere length of human chromosomes. Hum Mol Genet (1996) 6.55
Telomeres in the mouse have large inter-chromosomal variations in the number of T2AG3 repeats. Proc Natl Acad Sci U S A (1997) 4.88
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet (1992) 3.76
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci (1983) 3.70
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
Rapid detection of human cytomegalovirus DNA in peripheral blood leukocytes of viremic transplant recipients by the polymerase chain reaction. Transplantation (1989) 2.67
In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors. Histochemistry (1988) 2.26
Insulin stimulation of gene expression mediated by p21ras activation. EMBO J (1991) 2.23
Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization. Hum Genet (1987) 2.23
The primary structure of the alpha subunit of human elongation factor 1. Structural aspects of guanine-nucleotide-binding sites. Eur J Biochem (1986) 2.12
Antibodies to a 64,000 Mr human islet cell antigen precede the clinical onset of insulin-dependent diabetes. J Clin Invest (1987) 2.09
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides. Hum Mol Genet (1995) 2.07
Molecular cloning and analysis of cDNA sequences for two ribosomal proteins from Artemia. The coordinate expression of genes for ribosomal proteins and elongation factor 1 during embryogenesis of Artemia. Eur J Biochem (1985) 2.05
Linear 2' O-Methyl RNA probes for the visualization of RNA in living cells. Nucleic Acids Res (2001) 2.03
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet (1999) 1.99
Fluorochrome-labeled tyramides: use in immunocytochemistry and fluorescence in situ hybridization. J Histochem Cytochem (1997) 1.71
Hypoglycaemia associated with the production of insulin-like growth factor II and insulin-like growth factor binding protein 6 by a haemangiopericytoma. Clin Endocrinol (Oxf) (1999) 1.70
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia (2009) 1.70
Cardiac dysfunction induced by high-fat diet is associated with altered myocardial insulin signalling in rats. Diabetologia (2005) 1.69
Variants of CDKAL1 and IGF2BP2 affect first-phase insulin secretion during hyperglycaemic clamps. Diabetologia (2008) 1.69
Urinary creatinine excretion and lean body mass. Am J Clin Nutr (1976) 1.66
Up-converting phosphor reporters for nucleic acid microarrays. Nat Biotechnol (2001) 1.65
Variants in the sulphonylurea receptor gene: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians. Diabetologia (1999) 1.59
Mutational analysis of fibrillarin and its mobility in living human cells. J Cell Biol (2000) 1.57
Involvement of Shc in insulin- and epidermal growth factor-induced activation of p21ras. Mol Cell Biol (1994) 1.55
Detection of the Philadelphia chromosome in interphase nuclei. Cytogenet Cell Genet (1990) 1.52
Association between infant growth before onset of juvenile type-1 diabetes and autoantibodies to IA-2. Netherlands Kolibrie study group of childhood diabetes. Lancet (2000) 1.52
Structure and phosphorylation of an acidic protein from 60S ribosomes and its involvement in elongation factor-2 dependent GTP hydrolysis. Biochem Biophys Res Commun (1977) 1.48
Increasing incidence of type I diabetes in The Netherlands. The second nationwide study among children under 20 years of age. Diabetes Care (1994) 1.47
Correlations between isochores and chromosomal bands in the human genome. Proc Natl Acad Sci U S A (1993) 1.45
Fatty acid activation: specificity, localization, and function. Adv Lipid Res (1976) 1.45
Absence of the Gly40-Ser mutation in the glucagon receptor among diabetic patients in the Netherlands. Diabetes Care (1995) 1.42
Ras activation by insulin and epidermal growth factor through enhanced exchange of guanine nucleotides on p21ras. Mol Cell Biol (1993) 1.41
Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo. Hum Mol Genet (1993) 1.40
The midgestational human fetal pancreas contains cells coexpressing islet hormones. Dev Biol (1992) 1.37
Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta (1995) 1.32
High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet (1992) 1.31
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med (2008) 1.29
Characterization and chromosomal localization of the human proto-oncogene BMI-1. Hum Mol Genet (1993) 1.28
Interphase cytogenetics of brain tumors. Genes Chromosomes Cancer (1991) 1.28
Spreading and staining of human metaphase chromosomes on aminoalkylsilane-treated glass slides. Histochem J (1982) 1.26
T-cell reactivity to 38 kD insulin-secretory-granule protein in patients with recent-onset type 1 diabetes. Lancet (1991) 1.26
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis (2001) 1.25
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet (1996) 1.23
Establishment of a rat cell line inducible for the expression of human cytomegalovirus immediate-early gene products by protein synthesis inhibition. J Virol (1986) 1.23
Multiple fluorescence in situ hybridization. Cytometry (1990) 1.22
Rapid detection of human parvovirus B19 DNA by dot-hybridization and the polymerase chain reaction. J Virol Methods (1989) 1.22
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr (1990) 1.21
Association of a leucine(7)-to-proline(7) polymorphism in the signal peptide of neuropeptide Y with high serum cholesterol and LDL cholesterol levels. Nat Med (1998) 1.20
Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk. Diabetologia (2009) 1.20
Subnuclear localization of the active variant surface glycoprotein gene expression site in Trypanosoma brucei. Proc Natl Acad Sci U S A (1998) 1.20
Characteristic pattern of chromosomal gains and losses in marginal zone B cell lymphoma detected by comparative genomic hybridization. Leukemia (1997) 1.19
New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling. Eur J Hum Genet (1999) 1.19
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat (1996) 1.18
The glial and mesenchymal elements of gliosarcomas share similar genetic alterations. J Neuropathol Exp Neurol (1996) 1.17
ULS: a versatile method of labeling nucleic acids for FISH based on a monofunctional reaction of cisplatin derivatives with guanine moieties. Cytogenet Cell Genet (1999) 1.16
Differential expression in blood stages of the gene coding for the 21-kilodalton surface protein of ookinetes of Plasmodium berghei as detected by RNA in situ hybridisation. Mol Biochem Parasitol (1994) 1.16
Ribosomal proteins L7/L12 of Escherichia coli. Localization and possible molecular mechanism in translation. J Mol Biol (1983) 1.16
Prenatal diagnosis of Sanfilippo disease type B. Hum Genet (1984) 1.14
Universal linkage system: an improved method for labeling archival DNA for comparative genomic hybridization. Genes Chromosomes Cancer (1999) 1.13
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13
Expression, enzyme activity, and subcellular localization of mammalian target of rapamycin in insulin-responsive cells. Biochem Biophys Res Commun (1997) 1.13
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr (1996) 1.13
Analysis of antifading reagents for fluorescence microscopy. Cytometry (1995) 1.13
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. Neurogenetics (2006) 1.12
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res (2000) 1.12
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr (1996) 1.12
Fluorescence in situ hybridization using horseradish peroxidase-labeled oligodeoxynucleotides and tyramide signal amplification for sensitive DNA and mRNA detection. Histochem Cell Biol (1998) 1.11
A rapid and simple procedure to deplete rat-liver mitochondria of lysosomal activity. Biochim Biophys Acta (1970) 1.10
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet (1996) 1.10
The role of nitric oxide in bacterial meningitis in children. J Infect Dis (1996) 1.10
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A (1998) 1.09
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09
In situ hybridization with fluoresceinated DNA. Nucleic Acids Res (1991) 1.09
Sensitive mRNA detection by fluorescence in situ hybridization using horseradish peroxidase-labeled oligodeoxynucleotides and tyramide signal amplification. J Histochem Cytochem (1998) 1.09
Somatic pairing of chromosome 1 centromeres in interphase nuclei of human cerebellum. Hum Genet (1989) 1.07
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Diabetes (1994) 1.06
Incidence of childhood diabetes in The Netherlands: a decrease from north to south over north-western Europe? Diabetologia (1984) 1.06
Sensitivity of various visualization methods for peroxidase and alkaline phosphatase activity in immunoenzyme histochemistry. Histochem J (1985) 1.06
-to: Waldhäusl W (2001) Editorial: Finally we have arrived in a new millennium. Diabetologia 44: 1-2. Diabetologia (2001) 1.06
T-cell reactivity to beta-cell membrane antigens associated with beta-cell destruction in IDDM. Diabetes (1995) 1.05
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Hum Genet (2000) 1.05
Methodologies for specific intron and exon RNA localization in cultured cells by haptenized and fluorochromized probes. J Cell Sci (1993) 1.05
Detection of chromosome aberrations in interphase tumor nuclei by nonradioactive in situ hybridization. Cancer Genet Cytogenet (1989) 1.05
Specific metaphase and interphase detection of the breakpoint region in 8q24 of Burkitt lymphoma cells by triple-color fluorescence in situ hybridization. Genes Chromosomes Cancer (1992) 1.04
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet (1983) 1.03
Feasibility of in situ hybridisation with chromosome specific DNA probes on paraffin wax embedded tissue. J Clin Pathol (1991) 1.03
The localization of mitochondrial creatine kinase, and its use for the determination of the sidedness of submitochondrial particles. Biochim Biophys Acta (1973) 1.03
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. J Neurol Sci (1979) 1.02
Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. Eur J Pediatr (1984) 1.02
Detection of trisomy 8 in hematological disorders by in situ hybridization. Cytogenet Cell Genet (1991) 1.02