Dr. Cornelius Boerkoel practices Genetic Medicine in SIOUX FALLS, SD. As a geneticist, Dr. Boerkoel performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Boerkoel carries out studies, tests, and counsels patients with genetic diseases.
- Molecular mechanisms for CMT1A duplication and HNPP deletion.
- Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
- EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
- Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
- The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
- Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
- Longevity in Schimke immuno-osseous dysplasia.
- Chromatin remodeling and human disease.
- Transcriptional interaction between retroviral long terminal repeats (LTRs): mechanism of 5' LTR suppression and 3' LTR promoter activation of c-myc in avian B-cell lymphomas.
- Advances in chromatin remodeling and human disease.
- SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
- Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
- Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.
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