Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Filippo Pinto E. Vairo"'
Autor:
Abhishek A. Mangaonkar, Alejandro Ferrer, Filippo Pinto E. Vairo, Caleb W. Hammel, Carri Prochnow, Naseema Gangat, William J. Hogan, Mark R. Litzow, Steve G. Peters, J. P. Scott, James P. Utz, Misbah Baqir, Eva M. Carmona-Porquera, Sanjay Kalra, Hiroshi Sekiguchi, Shakila P. Khan, Douglas A. Simonetto, Eric W. Klee, Patrick S. Kamath, Anja C. Roden, Avni Y. Joshi, Cassie C. Kennedy, Mark E. Wylam, Mrinal M. Patnaik
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 10, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/27e9092325134f4fbeacfa52f84d9291
Autor:
Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limi
Externí odkaz:
https://doaj.org/article/972503d913ba4e5d89b1ba27347069e3
Autor:
Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either t
Externí odkaz:
https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f
Autor:
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referre
Externí odkaz:
https://doaj.org/article/c8126f3045e9484785b14d1f1aa59e81
Autor:
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological
Externí odkaz:
https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/7330cbbda97649539c05138a79d450aa
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause
Externí odkaz:
https://doaj.org/article/379d322058a142068b8b67a35317dec9
Autor:
Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
Externí odkaz:
https://doaj.org/article/b527ee7bd72c43f48b7b5dc695356788
Autor:
Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101148- (2024)
Externí odkaz:
https://doaj.org/article/1cd58182024b48cfacc41ea8e4d2a0cd
Autor:
Jan Verheijen, Nancy William, Marta Figueiral, Rory Olson, Deepak Panwar, Collin Osborne, Filippo Pinto e Vairo, Eric Klee
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101242- (2024)
Externí odkaz:
https://doaj.org/article/292cb0b8a99c4570b14efe714421f81c