Results 81 to 90 of about 202,134 (217)
Efficacy and Safety of Subcutaneous Efgartigimod PH20 in Adults With Primary Immune Thrombocytopenia (ADVANCE SC): A Multicenter, Randomized, Double‐Blinded, Placebo‐Controlled, Phase 3 Trial
American Journal of Hematology, EarlyView.ABSTRACT
Primary autoimmune thrombocytopenia (ITP) is characterized by thrombocytopenia, bleeding, and reduced health‐related quality of life. In the Phase 3 ADVANCE IV study, intravenous efgartigimod induced significant platelet count responses versus placebo in patients with chronic ITP. ADVANCE SC, a Phase 3, multicenter, randomized, double‐blinded, Nichola Cooper, Catherine M. Broome, Yoshitaka Miyakawa, Vickie McDonald, Hanny Al‐Samkari, Abderrahim Khelif, Spero R. Cataland, Wilma Barcellini, Renchi Yang, Heng Mei, Filip Matthijssens, Anna Hultberg, Giorgia Ciurlia, Domenica Gandini, Jaume Ayguasanosa, Kristof De Beuf, Ségolène Pastouret, Waleed Ghanima, Francesco Rodeghiero, James B. Bussel, the ADVANCE SC Investigator Trial Group, Marcela Sarmiento, Anahi Rollheiser, Hugo Ferro, Victoria Caula, Edgardo Garcia Espina, Sebastian Pastoriza, Ross I Baker, Maan Alwan, Peter Thian Guan Tan, Jir‐Ping Boey, Jack Karel Driml, Jennifer Curnow, Emily Blyth, Taryn Freeman, Amanda Johnston, John Kwan, Chun Ma, Jonathan Marwick, Kenneth Micklethwaite, Lachlin Vaughan, Zane Kaplan, Gareth Gregory, Emma Leitinger, Christopher Leow, Alexandra Murton, Jeremy Ong, Ross Salvaris, Maciej Jan Tatarczuch, Jonathan Wong, Ahmad Zargari, Michael Leahy, Philip Young‐Ill Choi, Angeline Audrey Achola Josiah, Kisoth Arasaratnam, Fathima Ayyalil, Samuel Bennett, Philip Crispin, James D’Rozario, Melanie D’Souza, Thomas Gleeson, Maya Latimer, Edwin Lee, Jun Lim, Ross Lindell‐Innes, Mridula Mokoonlall, Jun Ng, Nalini Pati, Michael Pidcock, Kristy Natasha Rady, Caitllin Thirunavukarasu, Pencho Georgiev, Maria Dimitrova, Zhanet Grudeva‐Popova, Bulent Nihat, Alexander M. Arellano Rojas, Christine M. Rojas Hopkins, Eugenia Loredo Fort, Eduardo P. Yáñez Ruiz, Mauro Leandro Morales Sanhueza, Patricio Yanez Weber, Renchi Yang, Yunfei Chen, Ting Sun, Yun Zhuang, Lei Yang, Feng Zhang, Jiajia Li, Jun Li, Lin Liu, Meng Wang, Yanli Yang, Fangbing Zhu, Junfeng Zhu, Heng Mei, Danying Liao, Quizhe Wei, Hu Zhou, Bingjie Ding, Mengjuan Li, Xuewen Song, Lina Zhang, Yuanyuan Zhang, Liang Wang, Jia Cong, Liqiang Wei, Na Yao, Hongyu Zhang, Silang Chen, Jia Feng, Lihua Sun, Haichan Xu, Lei Xu, Qian Zhang, Fengluan Zhong, Guo wei Li, Guoshu Chen, Li Chen, Xiaoyu Chen, Dongting Liu, Xiaohua Qin, Xiaoling Xie, Xiaoming Fei, D. Wenping Lu, Yilong Lu, Ming Luo, Lixia Wang, Xianqiu Yu, Xin Wang, Chao Ding, Xiaoqiong Duan, Wenhua He, Liping Huan, Yanqiu Li, Juan Liu, Ningning Tang, Wei Yin, Mamia Zodelva, Irine Datikashvili‐David, Nino Sharashenidze, Levan Makhaldiani, Teano Gamezardashvili, Ekaterine Gaprindashvili, Tamar Gersamia, Magdana Betaneli, Tamta Makharadze, Anargyros Symeonidis, Maria‐Lamprini Kasti, Alexandra Kourakli, Vasileios Lazaris, Andi Prekazi, Angelos Sarantopoulos, Marina Mantzourani, Vasiliki Antoniadou, Dimitra Vlachopoulou, Antonia Syrigou, Achilles Anagnostopoulos, Eleni Gavriilaki, Michail Iskas, Ioanna Sakellari, Christos Varelas, Ronan G. Desmond, Paraic Behan, Helen Enright, Christopher Fox, John McHugh, Grace Rothwell‐Kelly, Louisa Shackleton, Ilana Levy‐Yurkovski, Natalia Kreiniz, Sarah Matarasso‐Greenfeld, Tamar Tadmor, Anatoly Nemets, Alexander Avroutine, Yosef Barshay, Tatiana Boulygin, Shirley Zafrir‐Haver, Andrea Patriarca, Riccardo Moia, Maura Nocolosi, Wilma Barcellini, Bruno Fattizzo, Juri Giannotta, Felicetto Ferrara, Barbara Pocali, Antonio Cuneo, Maurizio Cavallari, Francesco Cavazzini, Maria Ciccone, Gian Matteo, Mariarosaria Sessa, Paolo Tomasi, Antonio Urso, Fabrizio Pane, Federico Chiurazzi, Giada Muccioli Casadei, Alessandro Lucchesi, Maria Giannini, Giovanni Marconi, Giorgia Micucci, Marianna Norata, Monica Poggiaspalla, Elena Rossi, Valerio De Stefano, Tomoki Ito, Shinya Fujita, Masaaki Hotta, Akiko Konishi, Takahisa Nakanishi, Atsushi Satake, Hideaki Yoshimura, Akio Saito, Naoki Akashi, Hirono Iriuchishima, Akira Matsumoto, Morio Matsumoto, Masahiro Mihara, Keita Nakayama, Morio Sawamura, Yukie Terasaki, Yoshitaka Miyakawa, Ryohei Abe, Atsushi Ohsaki, Kohei Saito, Rie Shiomi, Kodai Suzuki, Kento Umino, Shoko Ito, Masahiro Ashiwaza, Shinichiro Fujiwara, Kaoru Morita, Yoshinobu Kanda, Daisuke Minakata, Rui Murahashi, Hirotomo Nakashima, Ken Ohmine, Tsukasa Ohmori, Kazuya Sato, Yumiko Toda, Masuzu Ueda, Chihiro Yamamoto, Katsutoshi Ozaki, Yuya Kishida, Yasuko Kuribayashi, Keita Kirito, Eriko Hosokawa, Hideto Hyuga, Ichiro Kawashima, Megumi Koshiishi, Takuma Kumagai, Minori Matsuura, Kei Nakajima, Yuma Sakamotot, Masaru Tanaka, Takeo Yamamoto, Ryosuke Ogawa, Kenichi Aoki, Kentaro Kohno, Akihiko Numata, Teppei Obara, Yotaro Tamai, Wataru Kamata, Teiko Kawahigashi, Shuku Sato, Shun Tsunado, Shigeki Ito, Shugo Kowata, Tatsuo Oyake, Suleimman Al‐Sweedan, Dalia Alsweedan, Raghad Irshaid, Nour Sameeh, Muath Thiabat, Abdalla Awidi Abbadi, Feras Al Fararjeh, Alaa Alshorman, Jong‐Ho Won, Kyoung Ha Kim, Seug Yun Yoon, Soo‐Mee Bang, Sang‐A Kim, Jeong‐Ok Lee, Ji Yun Lee, June‐Won Cheong, Ji Eun Jang, Hyun Soo Cho, Haerim Chung, Doh Yu Hwang, Yu Ri Kim, Hyewon Kook, Yunsuk Choi, Kyoo‐Hyung Lee, Eun‐Ji Choi, Je‐Hwan Lee, Jung‐Hee Lee, Hang‐Seung Park, Mariela Cardiel Silva, Ivan Gamez Valdez, Karen Miranda Fernandez, Carlos Chavez Trillo, Alva Zaragoza Vazquez, Marco A. Velasco Rojas, Ximena Arenas Reyes, Jessica Graciela Reyes Contreras, Francisco Hernandez Rodriguez, Kirsty Marshall, Sharon Jackson, Amy J. Holmes, Peter Ganly, Andrew Butler, Wei‐Hsun Hsu, Sean Macpherson, Emma‐Jane McDonald, Wendy Stewart, Waleed Ghanima, Eiriki Tjonnfjord, Sebastian Grosicki, Ewa Bodzenta, Marek Kriegler, Zofia Spyra‐Gorny, Maria Soroka‐Wojtaszko, Oliwia Bachanek‐Mitura, Justyna Kozinska, Szymon Fornagiel, Beata Kumiega, Grzegorz Basak, Jagoda Rytel, Maciej Kazmierczak, Piotr Cieslak, Emil Durka, Marek Kotlarski, Michal Kwiatek, Justyna Pieronkiewicz, Lukasz Pruchniewski, Teresa Melo, Mafalda Alpoim, Margarida Badoir, Henrique Coelho, Cristina Fereira, Marta Nunes, Sofie Ramalheira, Antonio Medina de Almeida, Paulo Bernardo, Paula Braga, Maria Fátima Ferreira, Pedro Afonso Costa Baptista, Marta Henriques, Celina Afonso, Guadalupe Gomes, Francisca Miranda, Filipa Mousinho, Ana Ramalhal Jorge, Mariana Vasilica, Andra Tomescu, Luminita Ocroteala, Gabriela Diana Baluta, Doriana Duta, Ioan Macarie, Marcela Candea, Georgeta Daniela Georgescu, Lidia Mihai, Florina Patrinoiu, Alina Catana, Alice Dumitrescu, Gabriela Borsaru, Anca Ciobanu, Laura Cristina Predescu, Delia‐Monica Dima, Ana Maria Bancos, Daniela Dragancea, Simona Galdean, Nicoleta Negru, Sergey Zakharov, Yulia Dubinina, Alvetina Lidzhieva, Uruzmag Tomaev, I Pospelova Tatiana, Tatiana Babaeva, Olga Seregina, Svetlana A. Volkova, Elena Kiseleva, Valeria Turetskova, Maria Novikova, Zhanna Davydova, Irina Novokreschenova, Svetlana Valerievna Samarina, Marina Kokoreva, Zorica Cvetkovic, Tamara Bibic, Milica Tanasjievic, Andrew B. McDonald, David Brittain, Philippa Ashmore, Karen Gunther, Johnny Mahlangu, Ching Yu Wang, Vernon Johan Louw, Cecile Du Toit, Elzanne Jansen van Rensburg, Gerdlen Johanna Kritzinger, Perry Loebenberg, Gamuchirai Tadzimirwa, Estelle Verburgh, Blanca Sanchez Gonzalez, Sara Garcia Avila, Yao‐yu Hsieh, Yu‐Sheng Chang, Tsu‐Yi Chao, Wei‐Hong Cheng, Po‐Ya Chuang, Sheng‐Hong Lin, Hui‐Wen Liu, Archrob Khuhapinant, Rarinee Rungjirajittranon, Noppacharn Uaprasert, Chatphatai Moonla, Suporn Chuncharunee, Pichika Chantrathammachart, Teeraya Puavilai, Chatree Chai‐Adisaksopha, Pokpong Piriyakhuntorn, Tontanai Numbenjapon, Wittawat Jandamnernpong, Rattapan Lamool, Nonglak Kanitsap, Lantarima Bhoopat, Nattiya Teawtrakul, Kanchana Chansung, Theerin Lanamtieng, Chinadol Wanitpongpun, Abderrahim Khelif, Bechir Achour, Walid Bouteraa, Raihane Ben Lakhal, Yosr Abdnnebi, Dorra Dhaouadi, Emna Maaloul, Moez Elloumi, Moez Medhaffa, Selami Kocak Toprak, Bulent Karakaya, Ekin Kircali, Gul Yavuz, Filiz Vural, Nigar Abdullayeva, Aysenur Arslan, Ajda Gunes, Fatma Keklik Karadag, Tural Pashayev, Denis Sabriye Bozer, Bahar Sevgili, Nur Soyer, Tuba Hacibekiroglu, Yasin Kalpakci, Cenk Sunu, Fevzi Altuntas, Semih Basci, Merih Kizil Cakar, Sema Secilmis, Mehmet Sinan Dal, Bahar Uncu Ulu, Samet Yaman, Tugce Nur Yigenoglu, Anil Tombak, Fatma Akbas, Meliha Nalcaci, Simge Erdem, Dilek Ozden Kubilay, Tarik Tiryaki, Ozgur Mehtap, Ayfer Geduk, Meltem Ayli, Tuba Bulduk, Alparslan Merdin, Melda Ozkan, Selim Sayin, Bilge Ugur, Murat Yildirim, Ahmet Muzaffer Demir, Ufuk Demirici, Elif Umit, Ahmet Yigitbasi, Burhan Turgut, Seval Akpinar, Mehmet Sonmez, Ozlen Bektas, Nergiz Erkut, Benjamin Bailiff, Salama Abosaod, Rabia Afghan, Amy Gudger, Tsan Hei Luk, Timothy Moorby, Maria Mushkbar, Beena Salhan, Elizabeth Tebbet, Adam Forbes, Michale Creagh, Nicole Fowler, Michelle Furtado, Cristina Maria Thiebaud Alvarez, David Tucker, Martha Vickers, Nichola Cooper, Christine Ademokun, Nehal Joshi, Lucy Kamuriwo, Clare Rees, Steven Lentz, Mark Karwal, Usha Perepu, Grerk Sutamtewagul, Catherine M. Broome, Pedro Alcedo, Julia Cunningham, Graig Kessler, Sunil Babu, Farrukh Adhami, Carrie Boots, Shalini Chitneni, Ryan Gonzales, Yasolatha Nalamolu, Sreenivasa Nattam, Guinevere Nilles, Ahad Sadiq, Shelley Seabolt, David Zimmerman, Bashar Alasad, Loralei Floden, Samer Hassan, Nasser Janbay, Kellie Larsen‐Dyer, Eric S. Schaefer, Joseph Beck, Daniel Bradford, Brooke Brander, Lynsay Brautnick, Mikaila Calcagni, K’Anne Cash‐Arthur, Rita Draggs, Diane Glendinning, Cristina Hernandez, Sarah Jewell, Matthew Lockwood, Gregory Oakhill, Stephan Rosenfeld, Patrick Travis +546 morewiley +1 more sourceOptimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli +16 morewiley +1 more sourceThe Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis +9 morewiley +1 more sourcem.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen +5 morewiley +1 more sourceExpanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque +2 morewiley +1 more sourcePhenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish +10 morewiley +1 more sourceTargeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner +9 morewiley +1 more source
