Published in Am J Med Genet on August 06, 1998
Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]. Am J Med Genet (1998) 1.40
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet (2006) 1.14
Help! Unusual X-ray appearances of a congenital bone disease of unknown aetiology. Pediatr Radiol (2001) 2.01
Osteoglophonic dwarfism. Pediatr Radiol (1980) 1.76
Complete cartilage-ring tracheal stenosis associated with anomalous left pulmonary artery: the ring-sling complex. Radiology (1984) 1.64
Ability of patients to accurately recall the severity of acute painful events. Acad Emerg Med (2001) 1.49
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology (2000) 1.48
Dysplasia epiphysealis hemimelica: clinical features and management. J Pediatr Orthop (1998) 1.47
Free radical adducts induce alterations in DNA cytosine methylation. Proc Natl Acad Sci U S A (1994) 1.38
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet (2001) 1.33
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol (1997) 1.31
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet (1998) 1.17
Holt-Oram syndrome associated with ectromelia and chromosomal aberrations. Am J Dis Child (1971) 1.16
Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy. Australas Radiol (1972) 1.15
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin Genet (1984) 1.11
Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. J Pediatr (1984) 1.10
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol (1980) 1.08
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet (2001) 1.08
Comparison of patient and practitioner assessments of pain from commonly performed emergency department procedures. Ann Emerg Med (1999) 1.07
Radiological case of the month. Right-upper-lobe esophageal bronchus (with VATER anomalies). Am J Dis Child (1989) 1.05
Multiple exostoses-mental retardation syndrome (Ale-Calo or M.E.M.R. syndrome). Clin Pediatr (Phila) (1977) 1.04
Social, emotional, and behavioral functioning of children with juvenile rheumatoid arthritis. Arthritis Rheum (2000) 1.04
Pycnodysostosis. A variant form with visceral manifestations. Arch Dis Child (1972) 1.03
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. S Afr Med J (1983) 1.03
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene. Am J Med Genet A (2005) 1.00
Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. J Paediatr Child Health (2005) 1.00
Kniest syndrome (report of two cases). Australas Radiol (1977) 0.99
Review article: the therapeutic potential of 5-HT3 receptor antagonists in the treatment of irritable bowel syndrome. Aliment Pharmacol Ther (1999) 0.97
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar). Skeletal Radiol (2004) 0.97
Hereditary dysplasia epiphysealis multiplex. Clin Radiol (1967) 0.95
Hypophosphatasia. Review of 24 cases. Pediatr Radiol (1976) 0.95
Precocious type of osteodysplasia. A new autosomal recessive form. Acta Radiol Diagn (Stockh) (1973) 0.95
The battered child syndrome. Australas Radiol (1979) 0.95
Atelosteogenesis: evidence for heterogeneity. Pediatr Radiol (1987) 0.94
Osteoid osteoma and osteoblastoma of the spine in children. Report of 22 cases with brief literature review. Pediatr Radiol (1986) 0.94
Radiography of stillborn infants. Australas Radiol (1971) 0.94
Difficulties in the classification of the epiphyseal dysplasias. Birth Defects Orig Artic Ser (1975) 0.93
3-M syndrome in two sisters. J Paediatr Child Health (2002) 0.93
Spondylo-Metaphyseal Dysplasia. (Report of 7 cases and essay of classification). Prog Clin Biol Res (1982) 0.92
Bone changes in Menkes' kinky hair syndrome. Radiol Diagn (Berl) (1973) 0.92
Metaphyseal chondrodysplasia calcificans. A report on two cases. Br J Radiol (1971) 0.92
Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families. Pediatr Radiol (1978) 0.92
Types and complications of femoral neck fractures in children. Pediatr Radiol (1993) 0.92
Mucolipidosis II: correlation between radiological features and histopathology of the bones. Pediatr Radiol (1989) 0.92
Induction of senescence in MYCN amplified neuroblastoma cell lines by hydroxyurea. Genes Chromosomes Cancer (2007) 0.91
New forms of neonatal death dwarfism. Report of 3 cases. Pediatr Radiol (1981) 0.91
Thanatophoric dwarfism. Br J Radiol (1970) 0.91
Larsen's syndrome;. Clin Pediatr (Phila) (1975) 0.90
Cell cycle and cell size regulation in Down syndrome cells. J Neural Transm Suppl (2003) 0.90
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet (1992) 0.89
A novel syndrome resembling Desbuquois dysplasia. Am J Med Genet A (2005) 0.89
Spondylo-metaphyseal dysplasias (report of a case of common type and three pairs of siblings of new varieties). Australas Radiol (1976) 0.89
Neonatal death dwarfism. Australas Radiol (1977) 0.89
Robinow syndrome: report of two cases and review of the literature. Australas Radiol (2007) 0.88
Radiographic features of progressive pseudorheumatoid arthritis. Australas Radiol (1986) 0.88
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. Am J Med Genet (1992) 0.88
Familial osteochondritis dissecans: a dysplasia of articular cartilage? Skeletal Radiol (1985) 0.87
Iodine-induced hyperthyroidism--an epidemiological survey several years after institution of iodine prophylaxis in Poland. J Endocrinol Invest (2003) 0.87
Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol (2001) 0.86
The suitability of DNA extracted from formalin-fixed, paraffin-embedded tissues for double differential polymerase chain reaction analysis. Int J Mol Med (2001) 0.86
Osteosclerotic metaphyseal dysplasia. Pediatr Radiol (1993) 0.86
Neonatal death dwarfism. (A further report). Rofo (1978) 0.86
Soft-tissue tumors of the hand and wrist of children. Can Assoc Radiol J (1989) 0.85
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. Rofo (1984) 0.85
Thyroid gland dysfunctions during antiviral therapy of chronic hepatitis C. Med Sci Monit (2001) 0.85
Calvarial doughnut lesions with osteoporosis, multiple fractures, dentinogenesis imperfecta and tumorous changes in the jaws. (Report of a case). Australas Radiol (1984) 0.85
Dappled diaphyseal dysplasias. Rofo (1989) 0.85
Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). Radiol Diagn (Berl) (1974) 0.84
Familial frontotemporal dementia with a P301L tau mutation in Japan. J Neurol Sci (2000) 0.84
Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. Pediatr Radiol (1976) 0.84
Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes. Pediatr Radiol (1987) 0.83
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype. Am J Med Genet (1998) 0.83
Acampomelic campomelic dysplasia with SOX9 mutation. Am J Med Genet (2000) 0.83
Bilateral glenoid dysplasia (report of 8 cases). Australas Radiol (1985) 0.83
Early osseous abnormalities in Menkes' kinky hair syndrome. Pediatr Radiol (1979) 0.83
Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature. Pediatr Radiol (1985) 0.83
Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome. Am J Med Genet (1991) 0.83
Achondroplasia and enchondromatosis in a female child. Skeletal Radiol (2003) 0.83
Radiographic findings in Larsen's syndrome. Australas Radiol (1974) 0.83
Werner mesomelic dysplasia. Report of two variant cases. J Belge Radiol (1987) 0.83
Familial expansile osteolysis--not exclusively an adult disorder. Skeletal Radiol (2006) 0.82
Dysosteosclerosis. Australas Radiol (1996) 0.82
Primary rib tumours in children (report of 27 cases with short literature review). Australas Radiol (1989) 0.82
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. Am J Med Genet Suppl (1987) 0.82
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol (1997) 0.82
[Pulmonary changes in a child with generalized granulomatous candidiasis]. Fortschr Geb Rontgenstr Nuklearmed (1969) 0.82
Spondylo-metaphyseal dysplasia (report of a case of common type and three cases of "new varities"). Rofo (1979) 0.82
Variability of spondylo-metaphyseal dysplasia, common type. Radiol Diagn (Berl) (1980) 0.82
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. Pediatr Radiol (1997) 0.82
Metachondromatosis. Can Assoc Radiol J (1995) 0.81
Japanese type of spondylo-metaphyseal dysplasia. Pediatr Radiol (1994) 0.81
The prevalence of tobacco smoking among public health students at Medical University of Białystok. Adv Med Sci (2007) 0.81
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Genet (1991) 0.81
Unclassified demineralising bone disease in an 8 years old girl (report of a case). Australas Radiol (1981) 0.80
Proteus syndrome (report of three cases). Australas Radiol (1990) 0.80
Brodie's abscess in the first decade of life. Report of eleven cases. Pediatr Radiol (1980) 0.80
Jansen type of spondylometaphyseal dysplasia. Skeletal Radiol (2000) 0.80
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. Eur J Pediatr (1999) 0.80
Pseudoachondroplastic dysplasia (Maroteaux-Lamy): a critical analysis. Australas Radiol (1976) 0.80
Metatropic dysplasia and its variants (analysis of 14 cases). Australas Radiol (1988) 0.80
Idiopathic chondrolysis--diagnostic difficulties. Report of four cases. Pediatr Radiol (1984) 0.79
Radiographic abnormalities in Laron dwarfism. Pediatr Radiol (1994) 0.79