Debra G B Leonard
Affiliation: University of Pennsylvania
- Medical practice and gene patents: a personal perspectiveDebra G B Leonard
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Acad Med 77:1388-91. 2002
- Diagnostic testing fails the testJon F Merz
Center for Bioethics, University of Pennsylvania, Philadelphia, Pennsylvania 19104 3308, USA
Nature 415:577-9. 2002
- Changes in food reward following smoking cessation: a pharmacogenetic investigationCaryn Lerman
Department of Psychiatry, Abramson Cancer Center, University of Pennsylvania, 3535 Market Street, Suite 4100, Philadelphia, PA 19104, USA
Psychopharmacology (Berl) 174:571-7. 2004..Despite the high prevalence and public health significance of weight gain following smoking cessation, little is known about the underlying bio-behavioral mechanisms or effective therapies...
- Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American menHanna Rennert
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Health System, 7 Gates West, 3400 Spruce Street, Philadelphia, PA 19104, USA
Cancer Epidemiol Biomarkers Prev 14:949-57. 2005..Therefore, MSR1 and RNASEL may play a role in prostate cancer progression and severity...
- Spinal muscular atrophy genetic testing experience at an academic medical centerShuji Ogino
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
J Mol Diagn 4:53-8. 2002..We conclude that comprehensive SMA testing, including SMN1 deletion analysis, SMN1 gene dosage analysis, and linkage analysis, offers the most complete evaluation of SMA patients and their families...
- Genetic risk assessment in carrier testing for spinal muscular atrophyShuji Ogino
Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
Am J Med Genet 110:301-7. 2002..We present updated calculations for disease and non-disease allele frequencies and we describe how these frequencies can be used for genetic risk assessment in carrier testing for SMA...
- Effects of patents and licenses on the provision of clinical genetic testing servicesMildred K Cho
Center for Biomedical Ethics, Stanford University, Palo Alto, California, USA
J Mol Diagn 5:3-8. 2003..Furthermore, our findings suggest that clinical geneticists feel that their research is inhibited by patents. The effects of patents and licenses on patients' access to tests, and the costs and quality thereof, remains to be determined...
- Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1Shuji Ogino
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Eur J Hum Genet 11:275-7. 2003..In conclusion, our data provide evidence that gene conversion from SMN2 to SMN1 occurs, and that SMN1 converted from SMN2 is present in the general population...
- Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practiceManuel Salto-Tellez
Department of Pathology, National University of Singapore, Singapore
J Mol Diagn 5:231-6. 2003..This study illustrates the utility of a kit-based multiplex RT-PCR assay for the molecular diagnosis and monitoring of leukemias and reinforces the complementary roles of molecular testing and cytogenetics in diagnostic hematopathology...