Results 91 to 100 of about 495,016 (275)
Italian Association of Clinical Endocrinologists (AME) and International Chapter of Clinical Endocrinology (ICCE). Position statement for clinical practice: prolactin-secreting tumors. [PDF]
Eur J Endocrinol, 2022 Cozzi R, Ambrosio MR, Attanasio R, Battista C, Bozzao A, Caputo M, Ciccarelli E, De Marinis L, De Menis E, Faustini Fustini M, Grimaldi F, Lania A, Lasio G, Logoluso F, Losa M, Maffei P, Milani D, Poggi M, Zini M, Katznelson L, Luger A, Poiana C. +21 moreeuropepmc +1 more sourceApolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism
Hepatology, EarlyView., 2022 Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background
NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD, Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas +30 morewiley +1 more sourceTime spent with cats is never wasted: Lessons learned from feline acromegalic cardiomyopathy, a naturally occurring animal model of the human disease [PDF]
, 2018 BackgroundIn humans, acromegaly due to a pituitary somatotrophic adenoma is a recognized cause of increased left ventricular (LV) mass. Acromegalic cardiomyopathy is incompletely understood, and represents a major cause of morbidity and mortality.A Colao, A Colao, A Colao, A Colao, A Colao, A Colao, A Colao, A Colao, A Mestron, A Piovesan, AC Dirtu, AM Pereira, B Posch, BJ Maron, BPP Meij, BR Bond, C Paige, C-Y Liu, CJL Little, CR Lamb, David B. Church, David J. Connolly, DJ Connolly, F Fracassi, G Jacobs, G Lombardi, G Lombardi, J Dal, J Gilbert, JA Myers, JK Sangster, JM Fletcher, JR Payne, JT Lie, Kieran Borgeat, LJ Wilkie, Lois Wilkie, M Galderisi, M Lesser, M Maxie Grant, M Nishiki, M Rosca, M-LL Jaffrain-Rea, MD Kittleson, ME Peterson, ME Peterson, NJ Pereira, Norelene Harrington, NS Moise, NS Moise, O Kershaw, OM Dekkers, P Menaut, PR Fox, PR Fox, PR Fox, PR Fox, PR Fox, R Baldelli, R Gostelow, R Pivonello, RC Weichselbaum, S Brown, S Fazio, S Fazio, S Fazio, S Fieffe, S Murarka, S Niessen, SJM Niessen, SJM Niessen, SJM Niessen, SK Liu, SK Liu, Stijn J. M. Niessen, SV Keyte, T Wagner, T. Rosol, Vincenzo Lionetti, Virginia Luis Fuentes, WL McGuffin +80 morecore +2 more sourcesCase Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...Russell Stewart, Kimberly M. Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan, Rizwan Hamid, Lynette Rives, John A. Phillips III, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A. Ladha, Claudia Soler‐Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B. Sheedy, Undiagnosed Diseases Network, Aaron Quinlan, Abdul Elkadri, Adeline Vanderver, Adriana Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, Ali Al‐Beshri, Alistair Ward, Allen Bale, Allyn McConkie‐Rosell, Alyssa A. Tran, Andrea Gropman, Andres Vargas, Andrew B. Crouse, Andrew Stergachis, Anna Hurst, Anna Raper, Arjun Tarakad, Ashley Andrews, Ashley McMinn, Ashok Balasubramanyam, Barbara N. Pusey Swerdzewski, Beatriz Anguiano, Ben Solomon, Beth A. Martin, Bianca E. Russell, Brandon M Wilk, Breanna Mitchell, Brendan C. Lanpher, Brendan H. Lee, Brent L. Fogel, Brett Bordini, Brett H. Graham, Brian Corner, Brianna Tucker, Bruce Korf, Calum A. MacRae, Camilo Toro, Cara Skraban, Carlos A. Bacino, Carol Oladele, Caroline Hendry, Carson A. Smith, Cecilia Esteves, Changrui Xiao, Chloe M. Reuter, Christine M. Eng, Chun‐Hung Chan, Colleen E. Wahl, Corrine K. Welt, Cynthia J. Tifft, Dana Kiley, Daniel J. Rader, Daniel Wegner, Danny Miller, Daryl A. Scott, Dave Viskochil, David A. Sweetser, David R. Adams, Deborah Barbouth, Deepak A. Rao, Devin Oglesbee, Devon Bonner, Donald Basel, Donna Novacic, Dustin Baldridge, Edward Behrens, Edwin K. Silverman, Elaine Seto, Elijah Kravets, Elisabeth Rosenthal, Elizabeth A Worthey, Elizabeth A. Burke, Elizabeth Blue, Elizabeth C. Chao, Elizabeth L. Fieg, Ellen F. Macnamara, Elsa Balton, Emily Glanton, Emily Shelkowitz, Emily Wang, Eric Allenspach, Eric Klee, Eric Vilain, Erin Conboy, Erin E. Baldwin, Erin McRoy, Esteban C. Dell’Angelica, Euan A. Ashley, F. Sessions Cole, Filippo Pinto, Frances High, Francesco Vetrini, Francis Rossignol, Francisco Bustos, Fuki M. Hisama, Gabor Marth, Gail P. Jarvik, Gary D. Clark, George Carvalho, Gerard T. Berry, Ghayda Mirzaa, Giorgio Sirugo, Gonench Kilich, Guney Bademci, Hector Rodrigo Mendez, Heidi Wood, Herman Taylor, Holly K. Tabor, Hongzheng Dai, Hsiao‐Tuan Chao, Hua Xu, Hugo J. Bellen, Hui Zhang, Ian Glass, Ian R. Lanza, Ingrid A. Holm, Isaac S. Kohane, Isum Ward, Ivan Chinn, J. Carl Pallais, Jacinda B. Sampson, James P. Orengo, James Verbsky, Jared Sninsky, Jason Hom, Jason Schend, Jennefer N. Kohler, Jennifer E. Posey, Jennifer Morgan, Jennifer Schymick, Jennifer Wambach, Jessica Douglas, Jiayu Fu, Jill A. Rosenfeld, Jimann Shin, Joan M. Stoler, Joanna M. Gonzalez, John A. Phillips, John Carey, John E. Gorzynski, John J. Mulvihill, Joie Davis, Jonathan A. Bernstein, Jordan Whitlock, Jose Abdenur, Joseph Loscalzo, Joy D. Cogan, Julian A. Martínez‐Agosto, Julie McCarrier, Justin Alvey, Kahlen Darr, Kaitlin Callaway, Kathleen A. Leppig, Kathleen Sullivan, Kathy Sisco, Kathyrn Singh, Katrina Dipple, Kayla M. Treat, Kelly Hassey, Kelly Schoch, Kevin S. Smith, Khurram Liaqat, Kim Worley, Kimberly Ezell, Kimberly LeBlanc, Kumarie Latchman, Lance H. Rodan, Laura Keehan, Laura Pace, Laurel A. Cobban, Lauren Blieden, Lauren C. Briere, Lauren Jeffries, Laurens Wiel, Layal F. Abi Farraj, Leoyklang Petcharet, LéShon Peart, Lili Mantcheva, Lilianna Solnica‐Krezel, Lindsay C. Burrage, Lindsay Mulvihill, Lisa Schimmenti, Lisa T. Emrick, Lorenzo Botto, Lorraine Potocki, Lynette Rives, Lynne A. Wolfe, Maija‐Rikka Steenari, Manish J. Butte, Margaret Delgado, María José Ortuño Romero, Maria T. Acosta, Marie Morimoto, Mariko Nakano‐Okuno, Mark Gerstein, Mark Wener, Marla Sabaii, Martha Horike‐Pyne, Martin G. Martin, Martin Rodriguez, Matt Velinder, Matthew Coggins, Matthew Might, Matthew T. Wheeler, MayChristine V. Malicdan, Megan Bell, Meghan C. Halley, Melissa Walker, Mia Levanto, Michael Bamshad, Michael F. Wangler, Michael Muriello, Michael Zimmermann, Michele Spencer‐Manzon, Miranda Leitheiser, Mohamad Mikati, Mohamad Saifeddine, Monika Weisz Hubshman, Monkol Lek, Monte Westerfield, Mustafa Tekin, Nada Derar, Naghmeh Dorrani, Neil H. Parker, Neil Hanchard, Nicholas Borja, Nicola Longo, Nicole M. Walley, Nitsuh K. Dargie, Odelya Kaufman, Oguz Kanca, Orpa Jean‐Marie, Page C. Goddard, Paolo Moretti, Patricia A. Ward, Patricia Dickson, Paul Berger, Paul G. Fisher, Pengfei Liu, Peter Byers, Pinar Bayrak‐Toydemir, Precilla D’Souza, Queenie Tan, Rachel A. Ungar, Rachel Li, Rachel Mahoney, Ramakrishnan Rajagopalan, Raquel L. Alvarez, Rebecca C. Spillmann, Rebecca Ganetzky, Rebecca Overbury, Rebekah Barrick, Richard A. Lewis, Richard L. Maas, Rizwan Hamid, Rong Mao, Ronit Marom, Rosario I. Corona, Runjun Kumar, Russell Butterfield, Sanaz Attaripour, Sandesh Nagamani, Sara Emami, Seema R. Lalani, Serena Neumann, Seth Perlman, Shamika Ketkar, Shamil R. Sunyaev, Shilpa N. Kobren, Shinya Yamamoto, Shrikant Mane, Shruti Marwaha, Sirisak Chanprasert, Stanley F. Nelson, Stephan Zuchner, Stephanie Bivona, Stephanie M. Ware, Stephen B Montgomery, Stephen Pak, Steven Boyden, Suha Bachir, Surendra Dasari, Susan Korrick, Suzanne Sandmeyer, Tahseen Mozaffar, Tammi Skelton, Tanner D Jensen, Tarun KK Mamidi, Taylor Beagle, Taylor Maurer, Teodoro Jerves Serrano, Terra R. Coakley, Thomas Cassini, Thomas J. Nicholas, Timothy Schedl, Tiphanie P. Vogel, Vaidehi Jobanputra, Valerie V. Maduro, Vandana Shashi, Vasilis Vasiliou, Virginia Sybert, Vishnu Cuddapah, Wendy Introne, Wendy Raskind, Willa Thorson, William A. Gahl, William E. Byrd, William J. Craigen, Winston Halstead, Yan Huang, Yigit Karasozen, Yong‐Hui Jiang, Thomas Cassini +336 morewiley +1 more sourceAdeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy
Hepatology, EarlyView., 2022 Abstract Background and Aims
Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning +25 morewiley +1 more sourceNeurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft +19 morewiley +1 more sourceNoninvasive tests for nonalcoholic fatty liver disease in a multi‐ethnic population: The HELIUS study
Hepatology Communications, EarlyView., 2022 Abstract
Nonalcoholic fatty liver disease (NAFLD) is increasing in prevalence and severity globally, prompting noninvasive testing, yet limited data exist on noninvasive liver tests (NITs) including transient elastography (TE) in ethnically diverse populations.Anne‐Marieke van Dijk, Yasaman Vali, Anne Linde Mak, Henrike Galenkamp, Max Nieuwdorp, Bert‐Jan van den Born, Adriaan Georgius Holleboom +6 morewiley +1 more source
