Zobrazeno 1 - 10
of 273
pro vyhledávání: '"M, Mansukhani"'
Autor:
Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed w
Externí odkaz:
https://doaj.org/article/558d0ed72fd84caf809686f06ec0780f
Autor:
Carleigh R. Canterbury, DDS, Helen Fernandes, PhD, John P. Crapanzano, MD, Vundavalli V. Murty, PhD, Mahesh M. Mansukhani, MD, Catherine A. Shu, MD, Matthias Szabolcs, MD, Anjali Saqi, MD, MBA
Publikováno v:
JTO Clinical and Research Reports, Vol 2, Iss 10, Pp 100223- (2021)
Introduction: The 2018 updated molecular testing guidelines for patients with advanced lung cancer incorporated ALK immunohistochemistry (IHC) analysis as an equivalent to fluorescence in situ hybridization (FISH) method recommended in 2013. Neverthe
Externí odkaz:
https://doaj.org/article/ea710891386e4a8a9b64d55a12b4bb23
Publikováno v:
Pediatric and Developmental Pathology. 26:166-171
Papillary intralymphatic angioendothelioma (PILA) is an extremely rare vascular tumor and its pathogenesis is unknown. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PROS) is a heterogeneo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ee206f9b4cc8ec11bba27824fab6c85
https://doi.org/10.1177/10935266231152370
https://doi.org/10.1177/10935266231152370
Autor:
Rebecca J. Leeman-Neill, Craig R. Soderquist, Francesca Montanari, Patricia Raciti, David Park, Dejan Radeski, Mahesh M. Mansukhani, Vundavalli V. Murty, Susan Hsiao, Bachir Alobeid, Govind Bhagat
Publikováno v:
Haematologica, Vol 107, Iss 1 (2020)
Plasmablastic lymphoma (PBL) is a rare and clinically aggressive neoplasm that typically occurs in immunocompromised individuals, including those infected with human immunodeficiency virus (HIV) and solid organ allograft recipients. Most prior studie
Externí odkaz:
https://doaj.org/article/252f392f937d47819103a14e653b32a6
Autor:
Craig R. Soderquist, Nupam Patel, Vundavalli V. Murty, Shane Betman, Nidhi Aggarwal, Ken H. Young, Luc Xerri, Rebecca Leeman-Neill, Suzanne K. Lewis, Peter H. Green, Susan Hsiao, Mahesh M. Mansukhani, Eric D. Hsi, Laurence de Leval, Bachir Alobeid, Govind Bhagat
Publikováno v:
Haematologica, Vol 105, Iss 7 (2020)
Indolent T-cell lymphoproliferative disorders of the gastrointestinal tract are rare clonal T-cell diseases that more commonly occur in the intestines and have a protracted clinical course. Different immunophenotypic subsets have been described, but
Externí odkaz:
https://doaj.org/article/ab19d298533c49e19e40f1923103fda2
Autor:
Ladan Fazlollahi, MD, Susan J. Hsiao, MD, PhD, Mahesh M. Mansukhani, MD, Julia L. Glade Bender, MD, Andrew L. Kung, MD, PhD, Darrell J. Yamashiro, MD, PhD, Helen E. Remotti, MD
Publikováno v:
Human Pathology: Case Reports, Vol 12, Iss C, Pp 42-47 (2018)
Malignant rhabdoid tumors (MRT) represent a distinct group of aggressive tumors usually occurring in infancy involving a variety of anatomic locations including the kidney, brain, soft tissue and liver. The molecular hallmark of these tumors is the p
Externí odkaz:
https://doaj.org/article/dc27268e4e3543e79f9438027a079702
Autor:
Thomas D. Lee, Dara L. Aisner, Marjorie Parker David, Celeste C. Eno, Jeffrey Gagan, Christopher D. Gocke, Natalya V. Guseva, Lisa Haley, Audrey N. Jajosky, Daniel Jones, Mahesh M. Mansukhani, Pawel Mroz, Sarah S. Murray, Kimberly J. Newsom, Vera Ashley Paulson, Somak Roy, Chase Rushton, Jeremy P. Segal, T. Niroshini Senaratne, Alexa J. Siddon, Petr Starostik, Jessica A. G. Van Ziffle, David Wu, Rena R. Xian, Sophia Yohe, Annette S. Kim
Publikováno v:
Blood Advances.
While molecular testing of hematologic malignancies is now standard of care, there is variability in practice and testing capabilities between different academic laboratories, with common questions arising on how to best meet clinical expectations. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::466997e7f0665dda7f860d141b300963
https://doi.org/10.1182/bloodadvances.2023010149
https://doi.org/10.1182/bloodadvances.2023010149
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Autor:
Filemon S. Dela Cruz, Daniel Diolaiti, Andrew T. Turk, Allison R. Rainey, Alberto Ambesi-Impiombato, Stuart J. Andrews, Mahesh M. Mansukhani, Peter L. Nagy, Mariano J. Alvarez, Andrea Califano, Farhad Forouhar, Beata Modzelewski, Chelsey M. Mitchell, Darrell J. Yamashiro, Lianna J. Marks, Julia L. Glade Bender, Andrew L. Kung
Publikováno v:
Genome Medicine, Vol 8, Iss 1, Pp 1-17 (2016)
Abstract Background Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular characterization of an adole
Externí odkaz:
https://doaj.org/article/d3e2f19cbddb43b485ebb884633c5a3a
Publikováno v:
Cancer Genetics. :47-52
Targetable NTRK gene fusions can be detected across tumor types using methodologies such as pan-TRK IHC, DNA or RNA NGS testing, or FISH. Challenges for implementation of clinical testing for NTRK fusions may arise due to the range in NTRK fusion pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12bf3c8bffc9a897d25986db8bd9cca
https://doi.org/10.1016/j.cancergen.2021.12.010
https://doi.org/10.1016/j.cancergen.2021.12.010