Dr. Robert L Nussbaum M.D.
Geneticist | Clinical Molecular Genetics
513 Parnassus Ave Hse901e San Francisco CA, 94143About
Dr. Robert Nussbaum practices Genetic Medicine in San Francisco, CA. As a geneticist, Dr. Nussbaum 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. Nussbaum carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Harvard Medical School 1975
Board Certification
Internal MedicineAmerican Board of Internal MedicineABIM
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- A murine model for juvenile NCL: gene targeting of mouse Cln3.
- Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase.
- Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].
- Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells.
- alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases.
- Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element.
- Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter.
- High resolution MRI reveals global changes in brains of Cln3 mutant mice.
- Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein.
- Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system.
- Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b.
- Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase.
- Proposed guidelines for papers describing DNA polymorphism-disease associations.
- Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase.
- Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival.
Treatments
- Birth Defects
Fellowships
- Baylor College Of Medicine 1981
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