Physician
Medical Genetics
Dr. Stephen B. Dowton, MD
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Stephen Dowton works in the field of Medical Genetics. Stephen Dowton is a published doctor as well. He has 62 publications published. The latest was: Methylmalonic aciduria (cblF): case report and response to therapy.
Publications
- An opportunity to reinforce ethical values: declarations made by graduating medical students in Australia and New Zealand.
- An innovative outcomes-based medical education program built on adult learning principles.
- Plasma proteins in health and disease: a scientific symposium to celebrate the career and accomplishments of Harvey R. Colten, M.D.
- Imperatives in medical education and training in response to demands for a sustainable workforce.
- Postgraduate medical education: rethinking and integrating a complex landscape.
- Leadership in medicine: where are the leaders?
- Training our future rural medical workforce.
- Declarations made by graduating medical students in Australia and New Zealand.
- Reinventing ourselves.
- Vertebral anomalies in a new family with ODED syndrome.
- Partial monosomy of distal 10q: three new cases and a review.
- Deletion of 1q in a patient with acrofacial dysostosis.
- Methylmalonic aciduria (cblF): case report and response to therapy.
- Unique cardiac and cerebral anomalies with chondrodysplasia punctata.
- Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
- Respiratory complications of Ehlers-Danlos syndrome type IV.
- Need for velopharyngeal management following palatoplasty: an outcome analysis of syndromic and nonsyndromic patients with Robin sequence.
- Serum amyloid A gene expression in rabbit, mink and mouse.
- Grouped papules in Hurler-Scheie syndrome.
- A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
- Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.
- Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.
- Linkage of preaxial polydactyly type 2 to 7q36.
- Schinzel-Giedion syndrome and congenital megacalyces.
- Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.
- Aase syndrome: novel radiographic features.
- Serum amyloid-P component of the Armenian hamster: gene structure and comparison with structure and expression of the SAP gene from Syrian hamster.
- Fetus in fetu: molecular analysis of a fetiform mass.
- Interhemispheric transfer in children with early-treated phenylketonuria.
- Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.
- Lesions in oculocerebrorenal syndrome.
- Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome.
- Diagnosis of human heritable diseases--laboratory approaches and outcomes.
- Serum amyloid P (female protein) of the Syrian hamster. Gene structure and expression.
- Serum amyloid A: an acute phase apolipoprotein and precursor of AA amyloid.
- Familial polyposis coli associated with familial meningiomas.
- Sex difference in human erythrocyte potassium levels.
- Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
- Diphtheria immunity in Massachusetts--a study of three urban patient populations.
- Studies of a familial platelet disorder.
- Congenital heart defect in a patient with deletion of chromosome 7q.
- Cerebroretinal vasculopathy. A new hereditary syndrome.
- Regulation of complement gene expression.
- Human serum amyloid P component. cDNA isolation, complete sequence of pre-serum amyloid P component, and localization of the gene to chromosome 1.
- Expression and sequence analyses of serum amyloid A in the Syrian hamster.
- Congenital microgastria and hypoplastic upper limb anomalies.
- Armenian hamster female protein (serum amyloid P component). Comparison with the sex-regulated homolog in Syrian hamster.
- Acute phase reactants in inflammation and infection.
- Syrian hamster female protein: analysis of female protein primary structure and gene expression.
- Rat serum amyloid P component. Analysis of cDNA sequence and gene expression.
- Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring.
- Mink serum amyloid A protein. Expression and primary structure based on cDNA sequences.
- C-reactive protein (CRP) of the Syrian hamster.
- Father and two children with total anomalous pulmonary venous connection.
- Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.
- Regulation of serum amyloid A gene expression in Syrian hamsters by cytokines.
- Developmental regulation of expression of C-reactive protein and serum amyloid A in Syrian hamsters.
- Rabbit serum amyloid protein A: expression and primary structure deduced from cDNA sequences.
- Lateralized deficits in visual attention in males with developmental dopamine depletion.
- Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding.
- A lethal syndrome resembling branchio-oculo-facial syndrome.
Schools
University Of Sydney Faculty Of Medicine
Chldns Hospital Mc
Repatriation Genl Hospital
Harvard Med School
Doctors Specialties
- Clinical Genetics
- Medical Genetics