Published in Am J Med Genet on May 03, 1996
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Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia. Dis Model Mech (2015) 0.79
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. Horm Res Paediatr (2016) 0.75
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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87
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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
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Duplicate publication and related problems. Pediatrics (1990) 1.46
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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
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A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
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Activation of collagen type II expression in osteoarthritic and rheumatoid cartilage. Virchows Arch B Cell Pathol Incl Mol Pathol (1992) 1.23
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Cell types infected in human cytomegalovirus placentitis identified by immunohistochemical double staining. Virchows Arch A Pathol Anat Histopathol (1993) 1.17
Impact of cereal fibre on glucose-regulating factors. Diabetologia (2005) 1.15
Differential expression of collagen types I, II, III, and X in human osteophytes. Lab Invest (1995) 1.14
Effect of human body weight changes on circulating levels of peptide YY and peptide YY3-36. J Clin Endocrinol Metab (2006) 1.13
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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
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
The clinical spectrum of alpha-L-iduronidase deficiency. Am J Med Genet (1985) 1.08
Preferential cellular and humoral immune reactivities to native and denatured collagen types IX and XI in a patient with fatal relapsing polychondritis. J Rheumatol (1993) 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
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
A molecular approach to dominance in hypophosphatasia. Hum Genet (2001) 1.04
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr (1997) 1.03
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics (2000) 1.03
The spondylometaphyseal dysplasias. A tentative classification. Pediatr Radiol (1991) 1.03
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03
The systemic mucopolysaccharidoses. Ergeb Inn Med Kinderheilkd (1972) 1.03
Two peculiar types of enchondromatosis. Pediatr Radiol (1978) 1.02
In situ hybridization studies on the expression of type X collagen in fetal human cartilage. Dev Biol (1991) 1.01
[A new (brachymelic) type of primordial dwarfism (author's transl)]. Monatsschr Kinderheilkd (1976) 1.00
Heterogeneity of Dyggve-Melchior-Clausen dwarfism. Hum Genet (1976) 0.99
The phenotypic variability of diastrophic dysplasia. J Pediatr (1978) 0.99
Antibodies TC-12 ("unique") and TH-111 (CD96) characterize T-cell acute lymphoblastic leukemia and a subgroup of acute myeloid leukemia. Exp Hematol (1998) 0.98
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
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
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet (1998) 0.94
Growth factor alterations in advanced diabetic retinopathy: a possible role of blood retina barrier breakdown. Diabetes (1997) 0.94
Etiology and pathogenesis of the prune belly syndrome. Kidney Int (1981) 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
Arthritis induced by continuous infusion of hr-interleukin-1 alpha into the rabbit knee-joint. Int J Tissue React (1989) 0.93
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
Recurrence of a solitary bone cyst of the mandibular condyle in a bone graft. A case report. Oral Surg Oral Med Oral Pathol (1992) 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
Pathomorphological and biochemical alterations in Ehlers-Danlos-syndrome type IV. Pathol Res Pract (1994) 0.92
[Congenital alpha-cell deficiency as cause of a chronic infantile hypoglycemia?]. Monatsschr Kinderheilkd (1969) 0.92
Increased serum levels of vascular endothelial growth factor in patients with inflammatory bowel disease. Scand J Gastroenterol (1998) 0.91
[Exomphalos-makroglossy-gigantism-syndrome, gneralized muscular hypertrophy, progressive lipodystrophy and Miescher's syndrome--congenital diencephalic syndromes?]. Z Kinderheilkd (1968) 0.91
Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. Am J Med Genet (1983) 0.91
Collagen fibrils of osteoid in osteogenesis imperfecta: morphometrical analysis of the fibril diameter. Am J Med Genet (1993) 0.90
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. J Med Genet (2001) 0.90
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Am J Med Genet (1996) 0.90
[Kniest's disease]. Arch Fr Pediatr (1974) 0.90
Helicobacter pylori-negative gastric ulcerations associated with celiac disease at first presentation. Z Gastroenterol (2001) 0.89
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[Hereditary arthro-ophthalmopathy]. Ann Radiol (Paris) (1968) 0.89
Jaffe-Campanacci syndrome: case report and review of literature. Clin Dysmorphol (1994) 0.89
Stippled epiphyses in fetal alcohol syndrome. Pediatr Radiol (1990) 0.88