Published in Pediatr Radiol on November 23, 2014
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Hajdu-Cheney syndrome with severe dural ectasia. Am J Med Genet A (2011) 1.44
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res (2005) 1.27
'Hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart disease. Pediatr Radiol (2005) 1.24
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet (2008) 1.17
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A (2003) 1.15
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. Hum Mutat (2005) 1.12
Scimitar vein draining to the left atrium and a historical review of the scimitar syndrome. Pediatr Radiol (2004) 1.12
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A (2004) 1.10
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clin Endocrinol (Oxf) (2009) 1.10
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. J Pediatr (2008) 1.10
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Vitamin D is a major determinant of bone mineral density at school age. PLoS One (2012) 1.08
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet (2013) 1.08
Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet (2012) 1.07
Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat (2006) 1.06
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med (2009) 1.06
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. Eur J Hum Genet (2002) 1.06
Hepatic pulmonary fusion in an infant with a right-sided congenital diaphragmatic hernia and contralateral mediastinal shift. J Pediatr Surg (2010) 1.04
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Hum Mol Genet (2007) 1.02
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet (2003) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
The skeletal dysplasias: clinical-molecular correlations. Ann N Y Acad Sci (2007) 1.02
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet (2012) 1.02
Where we are since ALARA and the series of articles on CT dose in children and risk of long-term cancers: what has changed? Pediatr Radiol (2002) 1.01
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet (2012) 1.00
The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am J Med Genet A (2009) 1.00
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. Bone (2007) 0.99
Decreased bone mineral density in adults born with very low birth weight: a cohort study. PLoS Med (2009) 0.97
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet (2005) 0.96
Osteochondromas and growth retardation secondary to externally or internally administered radiation in childhood. Pediatr Radiol (2007) 0.95
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol (2011) 0.95
The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men. Bone (2007) 0.95
Dual effect of adipose tissue on bone health during growth. Bone (2010) 0.95
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet (2007) 0.94
The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood. J Pediatr (2009) 0.94
Bone densitometry in the diagnosis of vertebral fractures in children: accuracy of vertebral fracture assessment. Bone (2007) 0.94
Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. J Bone Miner Res (2010) 0.93
Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis. J Rheumatol (2007) 0.93
Thoracolumbar fracture with listhesis--an uncommon manifestation of child abuse. Pediatr Radiol (2003) 0.92
Impact of aromatase inhibitor therapy on bone turnover, cortical bone growth and vertebral morphology in pre- and peripubertal boys with idiopathic short stature. Horm Res (2009) 0.92
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A (2011) 0.92
Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Genet (2002) 0.91
Neuroblastoma-remembering the three physicians who described it a century ago: James Homer Wright, William Pepper, and Robert Hutchison. Pediatr Radiol (2008) 0.91
Value of postmortem thoracic CT over radiography in imaging of pediatric rib fractures. Pediatr Radiol (2011) 0.90
MRI assessment of bronchial compression in absent pulmonary valve syndrome and review of the syndrome. Pediatr Radiol (2005) 0.90
Impaired bone health in inflammatory bowel disease: a case-control study in 80 pediatric patients. Calcif Tissue Int (2012) 0.89
Iatrogenic esophageal perforation in children. Pediatr Surg Int (2009) 0.89
Ossification sequence in infants who die during the perinatal period: population-based references. Radiology (2002) 0.89
Subcutaneous emphysema and pneumomediastinum as presenting manifestations of neonatal tracheal injury. J Perinatol (2002) 0.89
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. Am J Med Genet A (2007) 0.89
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. Am J Med Genet A (2008) 0.89
Differentiating campomelic dysplasia from Cumming syndrome. Am J Med Genet A (2005) 0.89
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. Am J Med Genet A (2003) 0.89
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. Am J Med Genet A (2006) 0.88
Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: a case-control study. J Bone Miner Res (2012) 0.88
Bisphosphonate treatment in craniofacial fibrous dysplasia--a case report and review of the literature. Clin Rheumatol (2008) 0.88
Periostitis secondary to interleukin-11 (Oprelvekin, Neumega). Treatment for thrombocytopenia in pediatric patients. Pediatr Radiol (2003) 0.88
A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis. J Bone Miner Res (2015) 0.88
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet (2013) 0.88
Bone biopsy findings and correlation with clinical, radiological, and biochemical parameters in children with fractures. J Bone Miner Res (2011) 0.87
Suppressed bone turnover in obesity: a link to energy metabolism? A case-control study. J Clin Endocrinol Metab (2014) 0.87
A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol (2011) 0.86
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. Am J Med Genet A (2007) 0.86
Incidence and predictors of fractures in children after solid organ transplantation: a 5-year prospective, population-based study. J Bone Miner Res (2005) 0.86
More on Kartagener's syndrome and the contributions of Afzelius and A.K. Siewert. Pediatr Radiol (2004) 0.86
Transient enhancement of pericardium, peritoneum, soft tissues and perhaps lymphatics after large doses of contrast administration: an overlooked phenomenon? Pediatr Radiol (2011) 0.85
Low bone mass in patients with motor disability: prevalence and risk factors in 59 Finnish children. Dev Med Child Neurol (2010) 0.85
Infant milk feeding influences adult bone health: a prospective study from birth to 32 years. PLoS One (2011) 0.85
Hypervitaminosis A-induced premature closure of epiphyses (physeal obliteration) in humans and calves (hyena disease): a historical review of the human and veterinary literature. Pediatr Radiol (2007) 0.85
Perfect is the enemy of the very good. Pediatr Radiol (2002) 0.85
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A (2014) 0.85
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. Am J Med Genet A (2011) 0.85
Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities. Am J Med Genet A (2009) 0.84
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis. Eur J Med Genet (2012) 0.84
Skeletal measurements among infants who die during the perinatal period: new population-based reference. Pediatr Radiol (2002) 0.84
Vitamin D deficiency in children with a chronic illness-seasonal and age-related variations in serum 25-hydroxy Vitamin D concentrations. PLoS One (2013) 0.84