Instructor, Pediatrics, Washington University School of Medicine
Medical Genetics
Dr. Beth A. Kozel, MD
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Beth Kozel practices Medical Genetics. She attended Washington University School of Medicine in St. Louis. Beth Kozel is a published doctor and has 19 publications published. The lastest was: 'Skin findings in Williams syndrome.'
Publications
- Biomechanical properties of the skin in cutis laxa.
- Skin findings in Williams syndrome.
- Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
- Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency.
- Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
- Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1.
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
- Genetic modifiers of the cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic Noncomplementation.
- BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
- Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women.
- Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters.
- Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process.
- Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain.
- Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.
- Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
- Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells.
- Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Schools
Washington Center School of Medicine
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Washington University -
Washington University School of Medicine in St. Louis
Hospital
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Barnes-Jewish Hospital -
St. Louis Children's Hospital
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