Physician
Medical Genetics
Dr. Nazli B. McDonnell, MD
Nazli B. McDonnell works in the field of Medical Genetics. She researched medicine at University of Maryland School of Medicine. University of Maryland School of Medicine is ranked 37 in research and 52 in primary care medicine Nazli McDonnell is a published doctor. She has 22 papers published. The most current publication "Azodicarbonamide inhibits HIV-1 replication by targeting the nucleocapsid protein."
Publications
- Beyond Marfan: the clinical impact of bronchiectasis and non-tuberculous mycobacteria in connective tissue diseases.
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
- Tenascin-X gene defects and cardiovascular disease.
- Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.
- Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia.
- Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
- Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency.
- Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
- Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of ehlers-danlos syndrome.
- Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.
- Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.
- The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
- Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.
- Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.
- Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes.
- Safe duration of postoperative monitoring for malignant hyperthermia susceptible patients.
- Malignant hyperthermia and day stay surgery.
- Azodicarbonamide inhibits HIV-1 replication by targeting the nucleocapsid protein.
- Involvement of notch signaling in wound healing.
- Circulating transforming growth factor-beta in Marfan syndrome.
Schools
University of Maryland At Baltimore Professional Schools
Doctors Specialties
- Medical Genetics
Accepted Insurances
Education
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National Institutes of Health Clinical Center -
Wellspan York Hospital -
University of Maryland School of Medicine