Published in Eur J Pediatr on May 01, 1980
Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study. Diabetologia (2011) 2.43
Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol (1988) 2.06
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr (1982) 2.04
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr (1983) 1.98
A dietary pattern protective against type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)--Potsdam Study cohort. Diabetologia (2005) 1.79
Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet (2002) 1.79
Spondyloepiphyseal dysplasia. Birth Defects Orig Artic Ser (1974) 1.60
Cardiac puncture of fetus with Hurler's disease avoiding abortion of unaffected co-twin. Lancet (1978) 1.52
"New" dwarfing syndromes. Birth Defects Orig Artic Ser (1977) 1.49
Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics (2007) 1.49
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd (1974) 1.48
Duplicate publication and related problems. Pediatrics (1990) 1.46
Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet (1987) 1.43
Osteogenesis imperfecta: a clinical study of the first ten years of life. Calcif Tissue Int (1992) 1.43
Mental retardation syndrome with renal concentration deficiency and intracerebral calcification. Eur J Pediatr (1990) 1.40
[Lipomucopolysaccharidosis, A new storage disease]. Z Kinderheilkd (1968) 1.38
Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology (1979) 1.34
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet (1993) 1.31
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet (1999) 1.29
Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. Humangenetik (1974) 1.26
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
[Dysosteosclerosis--a special form of generalized osteosclerosis]. Fortschr Geb Rontgenstr Nuklearmed (1968) 1.22
Wormian bones in osteogenesis imperfecta and other disorders. Skeletal Radiol (1982) 1.21
[Metatrophic dwarfism]. Arch Kinderheilkd (1966) 1.21
[The campomelic syndrome]. Presse Med (1971) 1.21
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts. Biochem Biophys Res Commun (1977) 1.18
Euglycemic hyperinsulinemia, but not lipid infusion, decreases circulating ghrelin levels in humans. J Endocrinol Invest (2002) 1.17
Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. Biochem Biophys Res Commun (1974) 1.17
Impact of cereal fibre on glucose-regulating factors. Diabetologia (2005) 1.15
Effect of human body weight changes on circulating levels of peptide YY and peptide YY3-36. J Clin Endocrinol Metab (2006) 1.13
The Dyggve-Melchior-Clausen syndrome. Radiology (1975) 1.13
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (2001) 1.13
The pallister mosaic syndrome. Birth Defects Orig Artic Ser (1977) 1.12
Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia. Eur J Pediatr (1982) 1.12
Congenital anomalies in children of epileptic mothers and fathers. Neuropediatrics (1980) 1.09
Microalbuminuria is a major determinant of elevated plasma retinol-binding protein 4 in type 2 diabetic patients. Kidney Int (2007) 1.09
The clinical spectrum of alpha-L-iduronidase deficiency. Am J Med Genet (1985) 1.08
Effects of marked weight loss on plasma levels of adiponectin, markers of chronic subclinical inflammation and insulin resistance in morbidly obese women. Int J Obes (Lond) (2005) 1.08
An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta (1979) 1.08
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia. J Bone Joint Surg Am (1970) 1.08
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. J Med Genet (2003) 1.07
The effect of moderate alcohol consumption on adiponectin oligomers and muscle oxidative capacity: a human intervention study. Diabetologia (2007) 1.07
Environmental aspects in pediatrics. New item in the European Journal of Pediatrics. Eur J Pediatr (1995) 1.06
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet (1998) 1.06
Duplicate publication and related problems. Arch Dis Child (1990) 1.05
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. Am J Med Genet (1996) 1.05
Heterogeneity of Morquio disease. Clin Genet (1986) 1.05
Insulin decreases human adiponectin plasma levels. Horm Metab Res (2003) 1.05
Atelosteogenesis. Am J Med Genet (1982) 1.04
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics (2000) 1.03
The systemic mucopolysaccharidoses. Ergeb Inn Med Kinderheilkd (1972) 1.03
The spondylometaphyseal dysplasias. A tentative classification. Pediatr Radiol (1991) 1.03
Two peculiar types of enchondromatosis. Pediatr Radiol (1978) 1.02
[A new (brachymelic) type of primordial dwarfism (author's transl)]. Monatsschr Kinderheilkd (1976) 1.00
The phenotypic variability of diastrophic dysplasia. J Pediatr (1978) 0.99
Heterogeneity of Dyggve-Melchior-Clausen dwarfism. Hum Genet (1976) 0.99
Pattern recognition in bone dysplasias. Prog Clin Biol Res (1985) 0.98
Elevation of blood glucose following anaesthetic treatment in C57BL/6 mice. Horm Metab Res (2004) 0.97
The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism. Hum Genet (1976) 0.97
Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. J Med Genet (1978) 0.96
Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature. Clin Genet (1982) 0.96
Heterogeneity of metatropic dysplasia. Eur J Pediatr (1983) 0.95
Geleophysic dysplasia. Am J Med Genet (1984) 0.95
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn (2000) 0.95
Etiology and pathogenesis of the prune belly syndrome. Kidney Int (1981) 0.94
Growth factor alterations in advanced diabetic retinopathy: a possible role of blood retina barrier breakdown. Diabetes (1997) 0.94
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. Am J Hum Genet (1999) 0.94
Difficulties in the classification of the epiphyseal dysplasias. Birth Defects Orig Artic Ser (1975) 0.93
Osteogenesis imperfecta congenita. Features and prognosis of a heterogenous condition. Pediatr Radiol (1982) 0.93
Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr (2001) 0.92
[Congenital alpha-cell deficiency as cause of a chronic infantile hypoglycemia?]. Monatsschr Kinderheilkd (1969) 0.92
SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med (2013) 0.92
Increased serum levels of vascular endothelial growth factor in patients with inflammatory bowel disease. Scand J Gastroenterol (1998) 0.91
Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. Am J Med Genet (1983) 0.91
[Exomphalos-makroglossy-gigantism-syndrome, gneralized muscular hypertrophy, progressive lipodystrophy and Miescher's syndrome--congenital diencephalic syndromes?]. Z Kinderheilkd (1968) 0.91
Mucolipidosis I--a sialidosis. Am J Med Genet (1977) 0.91
N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr (1999) 0.90
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Am J Med Genet (1996) 0.90
Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum Genet (1986) 0.90
Fetal presentation of Morquio disease type A. Prenat Diagn (1992) 0.90
[Kniest's disease]. Arch Fr Pediatr (1974) 0.90
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet (2001) 0.90
[Vater or Vacterl syndrome (author's transl)]. Klin Padiatr (1976) 0.89
[Hereditary arthro-ophthalmopathy]. Ann Radiol (Paris) (1968) 0.89
Stippled epiphyses in fetal alcohol syndrome. Pediatr Radiol (1990) 0.88
Osteogenesis imperfecta: a pasture for splitters and lumpers. Am J Med Genet (1984) 0.88
[Metaphyseal chondrodysplasia (metaphyseal dysostosis)--a new type?]. Z Kinderheilkd (1970) 0.88
Intravenous lipid and heparin infusion-induced elevation in free fatty acids and triglycerides modifies circulating androgen levels in women: a randomized, controlled trial. J Clin Endocrinol Metab (2008) 0.88
Novel approaches in the treatment of angiogenic eye disease. Curr Pharm Des (2005) 0.88
Improved insulin sensitivity, preserved beta cell function and improved whole-body glucose metabolism after low-dose growth hormone replacement therapy in adults with severe growth hormone deficiency: a pilot study. Diabetologia (2010) 0.88
Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am J Med Genet (1990) 0.87
Enantioselective multidimensional gas chromatography-mass spectrometry in the analysis of urinary organic acids. J Chromatogr B Biomed Sci Appl (1998) 0.87
Omenn phenotype with short-limbed dwarfism. J Pediatr (1991) 0.87