Published in Ned Tijdschr Geneeskd on January 15, 2005
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands. Eur J Hum Genet (2014) 0.76
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet (1997) 4.95
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
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy. Lancet (1999) 3.41
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet (2009) 2.65
Conjunction dysfunction: CBP/p300 in human disease. Trends Genet (1998) 2.64
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet (1990) 2.60
How to assess the external validity of therapeutic trials: a conceptual approach. Int J Epidemiol (2009) 2.49
Safety of low dose glucocorticoid treatment in rheumatoid arthritis: published evidence and prospective trial data. Ann Rheum Dis (2005) 2.48
Insulin stimulation of gene expression mediated by p21ras activation. EMBO J (1991) 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
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
Fatty acid-induced mitochondrial uncoupling in adipocytes as a key protective factor against insulin resistance and beta cell dysfunction: a new concept in the pathogenesis of obesity-associated type 2 diabetes mellitus. Diabetologia (2007) 1.94
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
The long lifespan and low turnover of human islet beta cells estimated by mathematical modelling of lipofuscin accumulation. Diabetologia (2009) 1.87
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet (2001) 1.83
Lipodystrophy in HIV-1-positive patients is associated with insulin resistance in multiple metabolic pathways. AIDS (2001) 1.81
Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut (2007) 1.79
Hepatic steatosis: a mediator of the metabolic syndrome. Lessons from animal models. Arterioscler Thromb Vasc Biol (2004) 1.79
Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet (1987) 1.76
Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet (1997) 1.73
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
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 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
Mapping the short arm of human chromosome 16. Genomics (1989) 1.69
Insulin sensitivity and insulin clearance in human immunodeficiency virus-infected men. Metabolism (1991) 1.68
The suprachiasmatic nucleus generates the diurnal changes in plasma leptin levels. Endocrinology (2001) 1.63
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int (1999) 1.61
Glucagon-like peptide-1 receptor agonist treatment reduces beta cell mass in normoglycaemic mice. Diabetologia (2013) 1.59
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
Duplications in the DMD gene. Hum Mutat (2006) 1.58
Involvement of Shc in insulin- and epidermal growth factor-induced activation of p21ras. Mol Cell Biol (1994) 1.55
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis (1999) 1.54
Quality of life is decreased in female patients treated for microprolactinoma. Eur J Endocrinol (2007) 1.52
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet (2001) 1.51
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
Human CD34+/KDR+ cells are generated from circulating CD34+ cells after immobilization on activated platelets. Arterioscler Thromb Vasc Biol (2010) 1.47
[Cushing's syndrome. II. New forms of treatment]. Ned Tijdschr Geneeskd (2006) 1.47
Mortality in acromegaly: a metaanalysis. J Clin Endocrinol Metab (2007) 1.47
Endocrinologic and metabolic effects of interleukin-6 in humans. Am J Physiol (1995) 1.46
Catheter replacement in continuous arteriovenous hemodiafiltration: the balance between infectious and mechanical complications. Crit Care Med (2002) 1.44
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet (1991) 1.44
Progression of acromegalic arthropathy despite long-term biochemical control: a prospective, radiological study. Eur J Endocrinol (2012) 1.43
[From gene to disease; from hemoglobin genes to thalassemia and sickle cell anemia]. Ned Tijdschr Geneeskd (2000) 1.43
Six months of recombinant human GH therapy in patients with ischemic cardiac failure does not influence left ventricular function and mass. J Clin Endocrinol Metab (2001) 1.43
Lipid profiles in middle-aged men and women after famine exposure during gestation: the Dutch Hunger Winter Families Study. Am J Clin Nutr (2009) 1.42
Infusion of long-chain or medium-chain triglycerides inhibits peripheral glucose metabolism in men. JPEN J Parenter Enteral Nutr (1995) 1.42
Absence of the Gly40-Ser mutation in the glucagon receptor among diabetic patients in the Netherlands. Diabetes Care (1995) 1.42
Postprandial recruitment of neutrophils may contribute to endothelial dysfunction. J Lipid Res (2002) 1.42
Anencephaly in the Netherlands: a remarkable decline. Lancet (1983) 1.41
Ras activation by insulin and epidermal growth factor through enhanced exchange of guanine nucleotides on p21ras. Mol Cell Biol (1993) 1.41
[Increased frequency of icterus in parenterally fed patients after a change of lipid emulsion]. Ned Tijdschr Geneeskd (1999) 1.40
[Transsphenoidal resection of pituitary adenomas: long-term results from the Leiden University Medical Center]. Ned Tijdschr Geneeskd (2008) 1.40
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet (1996) 1.40
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet (2005) 1.38
[Acne vulgaris: endocrine aspects]. Ned Tijdschr Geneeskd (2006) 1.38
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet (2011) 1.38
Hungry bone syndrome: still a challenge in the post-operative management of primary hyperparathyroidism: a systematic review of the literature. Eur J Endocrinol (2013) 1.36
Cushing's syndrome complicated by multiple opportunistic infections. J Endocrinol Invest (1998) 1.35
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab (2005) 1.35
PCOS, coronary heart disease, stroke and the influence of obesity: a systematic review and meta-analysis. Hum Reprod Update (2011) 1.35
Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta (1995) 1.32
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet (2007) 1.32
Tumor necrosis factor mimics the metabolic response to acute infection in healthy humans. Am J Physiol (1991) 1.29
Effects of interferon-alpha (IFN-alpha) administration on leucocytes in healthy humans. Clin Exp Immunol (1997) 1.28
Impaired NO-dependent vasodilation in patients with Type II (non-insulin-dependent) diabetes mellitus is restored by acute administration of folate. Diabetologia (2002) 1.28
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. Am J Hum Genet (1995) 1.27
A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum Genet (1987) 1.27
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet (2000) 1.26
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J Am Soc Nephrol (1999) 1.26
In muscle-specific lipoprotein lipase-overexpressing mice, muscle triglyceride content is increased without inhibition of insulin-stimulated whole-body and muscle-specific glucose uptake. Diabetes (2001) 1.25
Quality of life in patients after long-term biochemical cure of Cushing's disease. J Clin Endocrinol Metab (2005) 1.22
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
Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. Hum Mol Genet (2000) 1.20
Tumor necrosis factor: a putative mediator of the sick euthyroid syndrome in man. J Clin Endocrinol Metab (1990) 1.19
Cellular localization and tissue distribution of polycystin-1. J Pathol (1999) 1.18
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat (1996) 1.18
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet (2009) 1.17
Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab (2007) 1.17
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet (1993) 1.16
Ribosomal proteins L7/L12 of Escherichia coli. Localization and possible molecular mechanism in translation. J Mol Biol (1983) 1.16
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics (1997) 1.15
Diagnostic value of serum thyroglobulin measurements in the follow-up of differentiated thyroid carcinoma, a structured meta-analysis. Clin Endocrinol (Oxf) (2004) 1.15
Aortic stiffness is associated with cardiac function and cerebral small vessel disease in patients with type 1 diabetes mellitus: assessment by magnetic resonance imaging. Eur Radiol (2009) 1.14
Mortality in patients treated for Cushing's disease is increased, compared with patients treated for nonfunctioning pituitary macroadenoma. J Clin Endocrinol Metab (2007) 1.13
Expression, enzyme activity, and subcellular localization of mammalian target of rapamycin in insulin-responsive cells. Biochem Biophys Res Commun (1997) 1.13
Cerebral microbleeds in CADASIL. Neurology (2001) 1.13
Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations. Blood (1992) 1.12
The natural course of non-functioning pituitary macroadenomas. Eur J Endocrinol (2007) 1.12
Treatment and follow-up of clinically nonfunctioning pituitary macroadenomas. J Clin Endocrinol Metab (2008) 1.12
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? Hum Genet (1977) 1.12
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Am J Med Genet (2000) 1.11
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat (1997) 1.11
Protection from obesity and insulin resistance in mice overexpressing human apolipoprotein C1. Diabetes (2001) 1.10
Variation of CNV distribution in five different ethnic populations. Cytogenet Genome Res (2007) 1.10
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet (1996) 1.10