Research Topics
Species | DAVID ANDREW STEVENSONSummaryAffiliation: University of Utah Country: USA Publications
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Publications
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities ConsortiumDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
J Pediatr Orthop 33:269-75. 2013..On the basis of current knowledge, we propose a number of concepts to consider as a theoretical approach to the optimal management of tibial pseudarthrosis...- Peripheral muscle weakness in RASopathiesDavid A Stevenson
University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
Muscle Nerve 46:394-9. 2012..Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies... - Mosaicism in Stickler syndromeDavid A Stevenson
Dept of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
Eur J Med Genet 55:418-22. 2012..This scenario encourages consideration of molecular testing in seemingly unaffected parents for recurrence risks and potential screening for mild age-related manifestations... 
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasiaKristy Damjanovich
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
Orphanet J Rare Dis 6:85. 2011..Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG...- Analysis of skeletal dysplasias in the Utah populationDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 158:1046-54. 2012..Understanding the range for survival within each group/diagnosis is beneficial for health care providers when counseling families... - Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvementDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
J Clin Endocrinol Metab 93:3443-8. 2008..Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality... - Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomographyDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, SLC, UT 84132, USA
Bone 44:585-9. 2009..The objective of the study is to determine if the geometry of the lower limb in individuals with neurofibromatosis type 1 (NF1) differs from controls, and to characterize the osseous components of the tibia in NF1... - Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1David A Stevenson
Shriners Hospitals for Children, Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
J Pediatr Orthop 29:385-92. 2009..Anterolateral leg bowing is associated with neurofibromatosis type 1 (NF1) frequently leading to fracture and nonunion of the tibia. The objective of the study was to characterize the radiographic findings of tibial dysplasia in NF1... - Familial predisposition to developmental dysplasia of the hipDavid A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
J Pediatr Orthop 29:463-6. 2009..The purpose of this study is to assess the degree of relationship between individuals with DDH... - Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trialsDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
Am J Med Genet C Semin Med Genet 151:255-60. 2009..While traditional clinical outcomes are important, these newly developed instruments should be considered along with clinical indicators as measures of effect in clinical trials of interventions in genetic disorders... - Bone resorption in syndromes of the Ras/MAPK pathwayD A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
Clin Genet 80:566-73. 2011..0001) in all three conditions compared to controls suggesting that collagen degradation was predominantly from bone. The data suggest that the Ras/MAPK signal transduction pathway is important in bone homeostasis... - The musculoskeletal phenotype of the RASopathiesDavid A Stevenson
Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
Am J Med Genet C Semin Med Genet 157:90-103. 2011..However, there are also discordant skeletal phenotypes such as sphenoid wing dysplasia and tibial pseudarthrosis seen only in NF1. We provide an overview of the concordant and discordant musculoskeletal manifestations in the RASopathies... - Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1David A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
J Pediatr Endocrinol Metab 24:169-74. 2011..We report 25OHD concentrations in 109 children with NF1 and 218 controls matched for age, sex, geographic location, and time of year... - Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysisDavid A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Pediatr Res 63:697-701. 2008..The effects of NF1 haploinsufficiency likely contribute to abnormal bone remodeling, either directly or indirectly by aberrant Ras signaling, potentially predisposing NF1 individuals to localized skeletal defects... - Gastric rupture and necrosis in Prader-Willi syndromeDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
J Pediatr Gastroenterol Nutr 45:272-4. 2007..The physician should consider an emergent evaluation for gastric rupture and necrosis in individuals with PWS who present with vomiting and abdominal pain... 
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individualsDavid A Stevenson
Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA
Am J Med Genet A 124:158-64. 2004..Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended...- Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasiaDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 140:368-72. 2006.... - Double inactivation of NF1 in tibial pseudarthrosisDavid A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA
Am J Hum Genet 79:143-8. 2006..These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1... - Deaths due to choking in Prader-Willi syndromeDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:484-7. 2007.... - A new distal arthrogryposis syndrome characterized by plantar flexion contracturesD A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 140:2797-801. 2006..All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10)... - Bone mineral density in children and adolescents with neurofibromatosis type 1David A Stevenson
Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
J Pediatr 150:83-8. 2007..To assess whether children and adolescents with neurofibromatosis type 1 (NF1) have decreased bone mineral density (BMD)... - Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene clusterDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:1053-9. 2007..Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient... - Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomographyD A Stevenson
Department of Paediatrics, University of Utah, Salt Lake City, UT 84132, USA
J Musculoskelet Neuronal Interact 5:145-9. 2005..001], and decreased Stress Strain Index [p=0.010]. These data indicate that NF1 individuals have decreased muscle cross-sectional area and decreased bone strength than individuals without NF1... - Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotypeDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 130:88-91. 2004..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14... - 6q subtelomeric deletion: is there a recognizable syndrome?David A Stevenson
Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
Clin Dysmorphol 13:103-6. 2004..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families... - Speech-language characteristics of children with neurofibromatosis type 1Heather L Thompson
Department of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT 84112 0252, USA
Am J Med Genet A 152:284-90. 2010..Results of this study support the need for early assessment of speech and language problems for children diagnosed with NF1 and implementation of appropriate timely intervention as needed... - Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven B Bleyl
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
Am J Med Genet A 143:2785-95. 2007..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye... - Contribution of malformations and genetic disorders to mortality in a children's hospitalDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 126:393-7. 2004..This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management... - Clinical characteristics and natural history of Freeman-Sheldon syndromeDavid A Stevenson
Pediatrics, University of Utah, Salt Lake City, Utah, USA
Pediatrics 117:754-62. 2006..Such intensive therapeutic demands differ substantially from most other congenital contracture syndromes. These findings underscore the necessity of making an accurate diagnosis... - The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1David A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Genet Med 9:409-12. 2007..Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1... - 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotypeDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
J Pediatr 145:840-2. 2004..Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray... - NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1Talia M Muram-Zborovski
Department of Pathology, University of Utah, SLC, Utah, USA
Am J Med Genet A 152:1973-8. 2010.... - Familial clustering of hemangiomasJ Fredrik Grimmer
Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA
Arch Otolaryngol Head Neck Surg 137:757-60. 2011..To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas... - Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minorsFallon R Levine
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
J Genet Couns 19:269-79. 2010..Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing)... - A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sistersDavid A Stevenson
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 143:2221-6. 2007..We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance...
Research Grants
- Osseous Abnormalities in Neurofibromatosis Type 1David Stevenson; Fiscal Year: 2007..abstract_text> ..