Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Marie C, Hogan"'
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:
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:
Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, Marie C. Hogan
Publikováno v:
Kidney Medicine, Vol 3, Iss 5, Pp 785-798 (2021)
Rationale & Objective: The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identi
Externí odkaz:
https://doaj.org/article/04c369ed9d8440b18c17f55de117a3b3
Autor:
William P. Martin, MBChB, MSc, Lisa E. Vaughan, MS, Kotaro Yoshida, MD, PhD, Naoki Takahashi, MD, Marie E. Edwards, BSE, Andrew Metzger, MS, Sarah R. Senum, BS, Tetyana V. Masyuk, PhD, Nicholas F. LaRusso, MD, Matthew D. Griffin, MBChB, DMed, Ziad El-Zoghby, MD, Peter C. Harris, PhD, Walter K. Kremers, PhD, David M. Nagorney, MD, Patrick S. Kamath, MD, Vicente E. Torres, MD, PhD, Marie C. Hogan, MD, PhD
Publikováno v:
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 3, Iss 2, Pp 149-159 (2019)
Objective: To describe first episodes of bacterial cholangitis complicating autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) and to identify risk factors for cholangitis episodes among patie
Externí odkaz:
https://doaj.org/article/4088a39c872b4493bd6a251e5cdc7eb7
Autor:
Matthew R. D’Costa, Lauren A. Dalvin, Sandhya Manohar, Leo J. Maguire, Joseph P. Grande, Wilson I. Gonsalves, Samih H. Nasr, Marie C. Hogan
Publikováno v:
Kidney Medicine, Vol 1, Iss 2, Pp 71-74 (2019)
Crystalglobulinemia, a rare manifestation of monoclonal gammopathy, results from vascular deposition of crystallized monoclonal proteins leading to tissue injury. A 56-year-old man initially presented several years earlier with migratory polyarthralg
Externí odkaz:
https://doaj.org/article/d36c6c8727a640f78764d944b0879fef
Autor:
Theodora A. Potretzke, Panagiotis Korfiatis, Daniel J. Blezek, Marie E. Edwards, Jason R. Klug, Cole J. Cook, Adriana V. Gregory, Peter C. Harris, Fouad T. Chebib, Marie C. Hogan, Vicente E. Torres, Candice W. Bolan, Kumaresan Sandrasegaran, Akira Kawashima, Jeremy D. Collins, Naoki Takahashi, Robert P. Hartman, Eric E. Williamson, Bernard F. King, Matthew R. Callstrom, Bradley J. Erickson, Timothy L. Kline
Publikováno v:
Mayo Clinic Proceedings. 98:689-700
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f31c44a6d3c66cddbd185ee72beffbb9
https://doi.org/10.1016/j.mayocp.2022.12.019
https://doi.org/10.1016/j.mayocp.2022.12.019
Autor:
Tatsuya Suwabe, Francisco J Barrera, Rene Rodriguez-Gutierrez, Yoshifumi Ubara, Marie C Hogan
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0257606 (2021)
BackgroundUncertainty underlies the effectiveness of somatostatin analogues for slowing the progression of polycystic kidney or liver disease.MethodsEligible studies included randomized controlled trials (RCTs) evaluating somatostatin analog as thera
Externí odkaz:
https://doaj.org/article/6f9ca9a7b2574d088b588da4331f0ab4
Autor:
Tatsuya Suwabe, Alanna M. Chamberlain, Jill M. Killian, Bernard F. King, Adriana V. Gregory, Charles D. Madsen, Xiaofang Wang, Timothy L. Kline, Fouad T. Chebib, Marie C. Hogan, Patrick S. Kamath, Peter C. Harris, Vicente E. Torres
Publikováno v:
JHEP Reports, Vol 2, Iss 6, Pp 100166- (2020)
Background & Aims: Isolated autosomal-dominant polycystic liver disease (ADPLD) is generally considered a rare disease. However, the frequency of truncating mutations to ADPLD genes in large, population sequencing databases is 1:496. With the increas
Externí odkaz:
https://doaj.org/article/b0a46e63d2e441f8913c41529029e50d
Autor:
Taimur Dad, Kaleab Z. Abebe, K. Ty Bae, Diane Comer, Vicente E. Torres, Peter G. Czarnecki, Robert W. Schrier, Theodore I. Steinman, Charity G. Moore, Arlene B. Chapman, Diana Kaya, Cheng Tao, William E. Braun, Franz T. Winklhofer, Godela Brosnahan, Marie C. Hogan, Dana C. Miskulin, Frederic Rahbari Oskoui, Michael F. Flessner, Ronald D. Perrone
Publikováno v:
Kidney International Reports, Vol 3, Iss 3, Pp 619-624 (2018)
Introduction: The high burden of cardiovascular morbidity and mortality in autosomal dominant polycystic kidney disease (ADPKD) is related to development of hypertension and left ventricular hypertrophy. Blood pressure reduction has been shown to red
Externí odkaz:
https://doaj.org/article/6a879692ab8a41efa2db792d422b2020