Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability von CUNNINGHAM, J. M, CHRISTENSEN, E. R, TESTER, D. J, KIM, C.-Y, ROCHE, P. C, BURGART, L. J, THIBODEAU, S. N

Volltext

Swimming, a Gene-Specific Arrhythmogenic Trigger for Inherited Long QT Syndrome von Ackerman, Michael J., Tester, David J., Porter, Co-Burn J.

Volltext

A Ubiquitous Splice Variant and a Common Polymorphism Affect Heterologous Expression of Recombinant Human SCN5A Heart Sodium Channels von Makielski, Jonathan C, Ye, Bin, Valdivia, Carmen R, Pagel, Matthew D, Pu, Jielin, Tester, David J, Ackerman, Michael J

Volltext

Methodology and integrity monitoring of foundation concrete piles using Bragg grating optical fibre sensors von Kister, G., Winter, D., Gebremichael, Y.M., Leighton, J., Badcock, R.A., Tester, P.D., Krishnamurthy, S., Boyle, W.J.O., Grattan, K.T.V., Fernando, G.F.

Volltext

Postmortem Molecular Analysis of SCN5A Defects in Sudden Infant Death Syndrome von Ackerman, Michael J, Siu, Benjamin L, Sturner, William Q, Tester, David J, Valdivia, Carmen R, Makielski, Jonathan C, Towbin, Jeffrey A

Volltext

Molecular Diagnosis of the Inherited Long-QT Syndrome in a Woman Who Died after Near-Drowning von Ackerman, Michael J, Tester, David J, Porter, Co-burn J, Edwards, William D

Volltext

The Frequency of Hereditary Defective Mismatch Repair in a Prospective Series of Unselected Colorectal Carcinomas von Cunningham, Julie M., Kim, Cheong-Yong, Christensen, Eric R., Tester, David J., Parc, Yann, Burgart, Lawrence J., Halling, Kevin C., McDonnell, Shannon K., Schaid, Daniel J., Walsh Vockley, Catherine, Kubly, Vickie, Nelson, Heidi, Michels, Virginia V., Thibodeau, Stephen N.

Volltext

P4172Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse von Giudicessi, J, Tester, D, Ackerman, M

Volltext

Microsatellite Instability and Mutation Analysis of hMSH2 and hMLH1 in Patients with Sporadic, Familial and Hereditary Colorectal Cancer von Moslein, Gabriela, Tester, David J., Lindor, Noralane M., Honchel, Ronald, Cunningham, Julie M., French, Amy J., Halling, Kevin C., Schwab, Manfred, Goretzki, Peter, Thibodeau, Stephen N.

Volltext

Allelic imbalance and microsatellite instability in prostatic adenocarcinoma von CUNNINGHAM, J. M, SHAN, A, THIBODEAU, S. N, WICK, M. J, MDCONNELL, S. K, SCHAID, D. J, TESTER, D. J, QIAN, J, TAKAHASHI, S, JENKINS, R. B, BOSTWICK, D. G

Volltext

Reduced COX-2 protein in colorectal cancer with defective mismatch repair von KARNES, W. E, SHATTUCK-BRANDT, R, BURGART, L. J, DUBOIS, R. N, TESTER, D. J, CUNNINGHAM, J. M, KIM, C.-Y, MCDONNELL, S. K, SCHAID, D. J, THIBODEAU, S. N

Volltext

Clinical genetic testing in arrhythmogenic mitral valve prolapse syndrome highlights a potential overlap with familial dilated cardiomyopathy von Giudicessi, J, Tester, D, Bos, J, Siontis, K, Del-Carpio Munoz, F, Simpson, M, Macintyre, C, Behr, E, Ackerman, M

Volltext

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer von Berry, Rebecca, Schaid, Daniel J., Smith, Jeffrey R., French, Amy J., Schroeder, Jennifer J., McDonnell, Shannon K., Peterson, Brett J., Wang, Zheng-Yuan, Carpten, John D., Roberts, Steven G., Tester, David J., Blute, Michael L., Trent, Jeffrey M., Thibodeau, Stephen N.

Volltext

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes von Thibodeau, S N, French, A J, Roche, P C, Cunningham, J M, Tester, D J, Lindor, N M, Moslein, G, Baker, S M, Liskay, R M, Burgart, L J, Honchel, R, Halling, K C

Volltext

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation von Snow, Karen, Tester, David J., Kruckeberg, Kent E., Schaid, Daniel J., Thibodeau, Stephen N.

Volltext

Providing Cognitive Behavioral Group Therapy via Videoconferencing: Lessons Learned From a Rapid Scale-Up of Telehealth Services von Kneeland, Elizabeth T., Hilton, Blake T., Fitzgerald, Hayley E., Castro-Ramirez, Franckie, Tester, Rachel D., Demers, Caleb, McHugh, R. Kathryn

Volltext

Molecular autopsy of sudden unexplained death in the young von Ackerman, M J, Tester, D J, Driscoll, D J

Volltext

In vivo KCNQ1-suppression-replacement gene therapy in transgenic LQT1 rabbits restores a physiological QT interval at baseline and under catecholamine infusion von Giammarino, L, Bains, S, Louradour, J, Nimani, S, Alerni, N, Tester, D, Christoforou, N, Horvath, A, Beslac, O, Koren, G, Brunner, M, Casoni, D, Haeberlin, A, Ackerman, M J, Odening, K E

Volltext

In vivo KCNH2-suppression-replacement gene therapy attenuates the pathogenic phenotype in transgenic rabbits with short QT syndrome type 1 von Nimani, S, Bains, S, Alerni, N, Giammarino, L, Louradour, J, Horvath, A, Beslac, O, Tester, D J, Christoforou, N, Brunner, M, Casoni, D, Haeberlin, A, Brooks, G, Ackerman, M J, Odening, K E

Volltext

P.444 - Congenital myopathy associated with the Triadin knockout syndrome von Engel, A., Redhage, K., Tester, D., Ackerman, M., Selcen, D.

Volltext