Avi Orr-urtreger, Anat Bar-shira, Dani Bercovich, Noa Matarasso, Uri Rozovsky, Serena Rosner, ...
Epidemiologic and genetic studies support the considerable effect of heritable factors on prostate tumorigenesis, although to date, no unequivocal susceptibility gene has been identified. The...
SMN1dosage analysis in spinal muscular atrophy from India (2005)
Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj
Abstract Background Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this...
SMN1 dosage analysis in spinal muscular atrophy from India
Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj
Rennert, Hanna, Zeigler-Johnson, Charnita M., Addya, Kathakali, Finley, Matthew J., Walker, Amy H., Spangler, Elaine, ...
Reported associations of ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer have been inconsistent and understudied in African Americans. We evaluated the role of 16 sequence variants in these...
Rennert, Hanna, Bercovich, Dani, Hubert, Ayala, Abeliovich, Dvora, Rozovsky, Uri, Bar-Shira, Anat, ...
HPC1/RNASEL was recently identified as a candidate gene for hereditary prostate cancer. We identified a novel founder frameshift mutation in RNASEL, 471delAAAG, in Ashkenazi Jews. The mutation...
SMN1 dosage analysis in spinal muscular atrophy from India
Kesari, Akanchha, Rennert, Hanna, Leonard, Debra GB, Mittal, Balraj
Heteroduplex Formation in SMN Gene Dosage Analysis
Ogino, Shuji, Leonard, Debra G. B., Rennert, Hanna, Gao, Sizhen, Wilson, Robert B.
Most spinal muscular atrophy patients lack both copies of SMN1 exon 7 and most carriers have only one copy of SMN1 exon 7. We investigated the effect of SMN1/SMN2 heteroduplex formation on SMN gene...
Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center
Ogino, Shuji, Leonard, Debra G. B., Rennert, Hanna, Wilson, Robert B.
Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families),...
Salto-Tellez, Manuel, Shelat, Suresh G., Benoit, Bernice, Rennert, Hanna, Carroll, Martin, Leonard, Debra G.B., ...
The aim of this study was to validate the application of a commercially available multiplex reverse transcription polymerase chain reaction (RT-PCR) assay [Hemavision-7 System] for the seven most...