Dr. Nazli B Mcdonnell M.D., PH.D.
Geneticist | Clinical Genetics (M.D.)
3001 S Hanover St Nia Clinical Unit 5t Brooklyn MD, 21225Rating
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About
Dr. Nazli Mcdonnell practices Genetic Medicine in Brooklyn, MD. As a geneticist, Dr. Mcdonnell 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. Mcdonnell carries out studies, tests, and counsels patients with genetic diseases.
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Expert Publications
Data provided by the National Library of Medicine- Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue.
- Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.
- Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for
- Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
- Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase
- Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
- Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.
- Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.
- Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
- Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
- Beyond Marfan: the clinical impact of bronchiectasis and non-tuberculous mycobacteria in connective tissue diseases.
- Hydrophobic moieties in cations, anions, and alcohols promote the B-to-Z transition in poly[d(G-C)] and poly[d(G-m5C)].
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