Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Thomas V. McDonald"'
Publikováno v:
HeartRhythm Case Reports, Vol 9, Iss 8, Pp 560-564 (2023)
Externí odkaz:
https://doaj.org/article/9434fce1f57b42989881d6bba1754635
Autor:
Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein
Publikováno v:
Pilot and Feasibility Studies, Vol 9, Iss 1, Pp 1-13 (2023)
Abstract Background The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase acc
Externí odkaz:
https://doaj.org/article/7f48af20b3204a4caf929dd7fb55d159
Autor:
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded
Externí odkaz:
https://doaj.org/article/f794ec56edff47938221c71b1ce133d7
Autor:
Jiajia Yang, Mariana A. Argenziano, Mariana Burgos Angulo, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/9f0a97d6fc0d47bdbf0a2b44f22f75c1
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-6 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/334447b3e3c141bca2619d554c1ef946
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-14 (2021)
Abstract Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populati
Externí odkaz:
https://doaj.org/article/819f1a1336f847c3a8fb64afc91c6e0a
Autor:
Jiajia Yang, Mariana A. Argenziano, Mariana Burgos Angulo, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Mutations in the LMNA gene (encoding lamin A/C) are a significant cause of familial arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable phenotypic variability in disease onset, rate of progression, arrhythmias, and s
Externí odkaz:
https://doaj.org/article/3d7d5bbed12746729c768f39cd494a6e
Autor:
Jiajia Yang, Mariana Burgos Angulo, Mariana A. Argenziano, Alexander Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102396- (2021)
Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we descri
Externí odkaz:
https://doaj.org/article/abe0a35ca9ea47d79d944ad8131a99ab
Autor:
Mariana Burgos Angulo, Jiajia Yang, Mariana A. Argenziano, Alexander C. Bertalovitz, Maliheh Najari Beidokhti, Thomas V. McDonald
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102399- (2021)
Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the
Externí odkaz:
https://doaj.org/article/e3d97582025a47539054298a73344460
Publikováno v:
Stem Cell Research, Vol 54, Iss , Pp 102398- (2021)
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal ge
Externí odkaz:
https://doaj.org/article/90e90ee693f04c80a41ba3077b93c5f0