Assistant Professor, Pediatrics, University of Iowa College of Medicine

Medical Genetics

Dr. Oleg A. Shchelochkov, MD

Oleg A. Shchelochkov works in the field of Medical Genetics. He graduated from Baylor College of Medicine. Oleg Shchelochkov is also published. He has 37 publications published. The lastest publication: "A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.'

Publications

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
The influence of maternal disease on metabolites measured as part of newborn screening.
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.
Association of amino acids with common complications of prematurity.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Genetic associations with neonatal thyroid stimulating hormone levels.
Clinical and environmental influences on metabolic biomarkers collected for newborn screening.
The heritability of metabolic profiles in newborn twins.
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster.
Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns.
Requirement of argininosuccinate lyase for systemic nitric oxide production.
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hyperten...
Molecular characterization of CPS1 deletions by array CGH.
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Genomic and clinical characteristics of microduplications in chromosome 17.
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Increased LIS1 expression affects human and mouse brain development.
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
Signaling pathways in human skeletal dysplasias.
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control.
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Doctors Specialties

Clinical Genetics
Medical Biochemical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

Baylor College of Medicine
University of Iowa Hospitals and Clinics

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