Assistant Professor, Pediatrics, University of Utah School of Medicine

Medical Genetics

Dr. Steven B. Bleyl, MD

Doctor Steven B. Bleyl, MD is an expert in the field of Medical Genetics. He went to medical school at University of Utah School of Medicine. Steven Bleyl is also published. He has 25 publications published. The lastest publication: "Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.'

Publications

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum.
Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy.
Family-based studies to identify genetic variants that cause congenital heart defects.
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.
Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system.
Redundant and dosage sensitive requirements for Fgf3 and Fgf10 in cardiovascular development.
Detection of isoform-specific fibroblast growth factor receptors by whole-mount in situ hybridization in early chick embryos.
Cardiac malformations in Pdgfralpha mutant embryos are associated with increased expression of WT1 and Nkx2.5 in the second heart field.
Platelet-derived growth factor is involved in the differentiation of second heart field-derived cardiac structures in chicken embryos.
Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation.
Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.
Restricted expression of Fgf16 within the developing chick inner ear.
Vasculogenesis drives pulmonary vascular growth in the developing chick embryo.
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.
Improvements in histological quality and signal retention following in situ hybridization in early chick embryos using plastic resin and recolorization.
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.
Identification of differentially expressed genes in early inner ear development.

Schools

University of Utah
University Of Az College Of Med

Doctors Specialties

Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

University of Utah
University of Arizona
University of Utah School of Medicine

Hospital

University of Utah Health Care - Hospital and Clinics

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