Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Mohammad K. Eldomery"'
Autor:
Julieann C. Lee, Selene C. Koo, Larissa V. Furtado, Alex Breuer, Mohammad K. Eldomery, Asim K. Bag, Pat Stow, Gary Rose, Trisha Larkin, Rick Sances, Bette K. Kleinschmidt-DeMasters, Jenna L. Bodmer, Nicholas Willard, Murat Gokden, Sonika Dahiya, Kaleigh Roberts, Kelsey C. Bertrand, Daniel C. Moreira, Giles W. Robinson, Jun Qin Mo, David W. Ellison, Brent A. Orr
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-14 (2024)
Abstract Neuroepithelial tumors with fusion of PLAGL1 or amplification of PLAGL1/PLAGL2 have recently been described often with ependymoma-like or embryonal histology respectively. To further evaluate emerging entities with PLAG-family genetic altera
Externí odkaz:
https://doaj.org/article/010d827f4cd9482a8210e6cd47d6e696
Autor:
Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V. Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar A. Abdul-Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-13 (2016)
Abstract Background Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequ
Externí odkaz:
https://doaj.org/article/7f523fab43c141578a90e6f14b7220f7
Autor:
Monica Penon‐Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban‐Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Publikováno v:
American Journal of Medical Genetics Part A. 188:2360-2366
Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver disease
Autor:
Sarah Scollon, Mohammad K. Eldomery, Jacquelyn Reuther, Frank Y. Lin, Samara L. Potter, Lauren Desrosiers, Kenneth L. McClain, Valeria Smith, Jack Meng‐Fen Su, Rajkumar Venkatramani, Jianhong Hu, Viktoriya Korchina, Neda Zarrin‐Khameh, Richard A. Gibbs, Donna M. Muzny, Christine Eng, Angshumoy Roy, D. Williams Parsons, Sharon E. Plon
Publikováno v:
Pediatric Blood & Cancer. 69
The association of childhood cancer with Lynch syndrome is not established compared with the significant pediatric cancer risk in recessive constitutional mismatch repair deficiency syndrome (CMMRD).We describe the clinical features, germline analysi
Autor:
Oudai Hassan, Muhammad T. Idrees, Sean R. Williamson, David J. Grignon, John N. Eble, Mohammad K. Eldomery, Liang Cheng, Khaleel I Al-Obaidy, Mehdi Nassiri, W. A. Sakr, Nilesh S. Gupta
Publikováno v:
Modern Pathology. 33:1157-1164
We recently proposed that an epithelial renal tumor “papillary renal neoplasm with reverse polarity” represents a distinct entity. It constituted 4% of previously diagnosed papillary renal cell carcinoma at the participating institutions. Histolo
Autor:
Michael F. Ferguson, Alexander O. Vortmeyer, Scott L. Coven, Katrina Ducis, Mark S. Marshall, Jessica Thoe, Jeffrey S. Raskin, Mohammad K. Eldomery
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 80
Neonatal germ cell tumors are rare and comprise both benign and malignant neoplasms. Teratoma with nephroblastoma is a malignant subset defined pathologically by the presence of nephroblastoma and teratoma elements. Although teratoma with nephroblast
Autor:
Alper Gezdirici, Christine M. Eng, Shan Chen, John W. Belmont, Elif Yilmaz Gulec, James R. Lupski, Yi-Chien Lee, Mohammad K. Eldomery, Rui Xiao, Magalie S. Leduc, Donna M. Muzny, Jennifer E. Posey, Fernando Scaglia, Zeynep Coban Akdemir, Jill A. Rosenfeld, Xia Wang, Francesco Vetrini, Michael M. Khayat, Richard A. Gibbs, Magdalena Walkiewicz, LaDonna Immken, Lionel Van Maldergem, Paolo Moretti, Theresa Mihalic Mosher, Yaping Yang, Anne Slavotinek, Brendan Lee, Jill M. Harris, Fan Xia, Weimin He, Adam W. Hansen, Pengfei Liu, Carlos A. Bacino, Yunru Shao, Yunyun Jiang, Davut Pehlivan, Neil A. Hanchard, Juliette Piard, Jing Zhang, Sandra Darilek, Brett H. Graham, Weimin Bi, Adekunle M. Adesina, Scott E. Hickey, Joke Beuten
Publikováno v:
Annals of Clinical and Translational Neurology. 5:1277-1285
De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 addition
Autor:
Naomi Meeks, Stefan Kindler, Anya Revah-Politi, Alexander P.A. Stegmann, Vinodh Narayanan, Dominique Bonneau, Claudia Schob, Jill A. Rosenfeld, Jennifer E. Posey, Tim M. Strom, LaDonna Immken, Tjitske Kleefstra, Jolanda H. Schieving, Katherine L. Helbig, Estelle Colin, Magalie Barth, Tamar Harel, Matthew J. Huentelman, James R. Lupski, Benjamin Cogné, Han G. Brunner, Yaping Yang, Sébastien Küry, Jenny Morton, Erica H. Gerkes, Keri Ramsey, Marine Tessarech, Zeynep Coban-Akdemir, Shimon Edvardson, Hans-Jürgen Kreienkamp, Nelly Oundjian, Davor Lessel, Christian Kubisch, Thomas Besnard, Jonas Denecke, Orly Elpeleg, Ana M. Claasen, Kelsey Zegar, Mohammad K. Eldomery, Sandra Mercier, Margot R.F. Reijnders, Stéphane Bézieau
Publikováno v:
American Journal of Human Genetics, 101(5), 716-724. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
Contains fulltext : 182457.pdf (Publisher’s version ) (Open Access) DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in D
Autor:
Christine M. Eng, Frank Y. Lin, Mohammad K. Eldomery, Sharon E. Plon, Sarah Scollon, Angshumoy Roy, Donald W. Parsons, Samara L. Potter, Jacquelyn Reuther, Lauren Desrosiers
Publikováno v:
Molecular Genetics and Metabolism. 132:S48-S49
Autor:
Khaleel I, Al-Obaidy, John N, Eble, Mehdi, Nassiri, Liang, Cheng, Mohammad K, Eldomery, Sean R, Williamson, Wael A, Sakr, Nilesh, Gupta, Oudai, Hassan, Muhammad T, Idrees, David J, Grignon
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 33(6)
We recently proposed that an epithelial renal tumor "papillary renal neoplasm with reverse polarity" represents a distinct entity. It constituted 4% of previously diagnosed papillary renal cell carcinoma at the participating institutions. Histologica