Dr. Nazli B Mcdonnell M.D., PH.D.
Geneticist | Clinical Genetics (M.D.)
3001 S Hanover St Nia Clinical Unit 5t Brooklyn MD, 21225Rating
4/5
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.
Provider Details
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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