Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Gisele E. Ishak"'
Publikováno v:
Radiology Case Reports, Vol 11, Iss 3, Pp 266-270 (2016)
Cervical dysraphism is rare, and the 3 recognized subtypes manifest as cystic, skin-covered masses. To our knowledge, no case of cervical lipomyelocele has been reported in the literature so far. We present a case of surgically and pathologically con
Externí odkaz:
https://doaj.org/article/2d424eca0d344d1d9993a0caae4e484b
Autor:
Murat Alp Oztek, Sakura M. Noda, Erin K. Romberg, Bonnie L. Cole, Jason N. Wright, Gisele E. Ishak, Francisco A. Perez
Publikováno v:
Pediatric radiology.
New tumor types are continuously being described with advances in molecular testing and genomic analysis resulting in better prognostics, new targeted therapy options and improved patient outcomes. As a result of these advances, pathological classifi
Autor:
Hedieh Khalatbari, Gisele E. Ishak
Publikováno v:
Pediatric Radiology. 51:205-215
Neuroblastoma is the most common neoplasm associated with pediatric Horner syndrome. The laboratory and imaging evaluation of isolated pediatric Horner syndrome is controversial. We review the literature published in the last several decades and pres
Autor:
Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey
Publikováno v:
The American Journal of Human Genetics. 105:606-615
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-e
Autor:
Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang
Publikováno v:
Journal of medical genetics, vol. 59, no. 9, pp. 888-894
BackgroundJoubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161
http://hdl.handle.net/11573/1582161
Autor:
Dennis W. W. Shaw, Jason N. Wright, Hedieh Khalatbari, Catherine Amlie-Lefond, Francisco A. Perez, Gisele E. Ishak
Publikováno v:
Pediatric radiology. 51(5)
Perinatal venous stroke has classically been attributed to cerebral sinovenous thrombosis with resultant congestion or thrombosis of the small veins draining the cerebrum. Advances in brain MRI, in particular susceptibility-weighted imaging, have ena
Autor:
Géraldine Viot, Sara Halbach, Sandra Yang, William T. Gibson, Megan T. Cho, Sabine Luettgen, Pierre-Marie Martin, Karen W. Gripp, Christopher T. Gordon, Michael J. Bamshad, Jonas Denecke, Benjamin Apple, Thierry Bienvenu, William B. Dobyns, Elizabeth Francisco, Jill R. Murrell, Deborah A. Nickerson, Nadja Ehmke, Angela E. Lin, Kelly Radtke, Lisenka E.L.M. Vissers, Shelagh Joss, Farah R. Zahir, Louise Amlie-Wolf, Francisca Millan, Joan M. Stoler, Michael Parker, Youngha Lee, Carey McDougall, Denise Horn, Ruth McGowan, Elaine H. Zackai, Nicolas Lebrun, Ingrid M. Wentzensen, Zöe Powis, Oliver Puk, Nancy Vegas, Dan Doherty, Noa Lev-El, Amanda Barone Pritchard, Joseph T. Shieh, Francesca Filippini, Mariëtte J.V. Hoffer, Russell R. Reid, Valérie Cormier-Daire, Murim Choi, Michele G. Mehaffey, Stanislas Lyonnet, Jan M. Friedman, Sarina G. Kant, Yuri A. Zarate, David Viskochil, Gordon K.C. Leung, Angela M. Kaindl, Steven L.C. Pei, Christopher C.Y. Mak, Clémantine Dimartino, Koenraad Devriendt, Tiong Yang Tan, Mullin H.C. Yu, Chumei Li, Brian H.Y. Chung, Tim M. Strom, Lindsay B. Henderson, Elliot S. Stolerman, Trevor L Hoffman, Lina Basel-Salmon, Davor Lessel, Chelsea Roadhouse, Gisele E. Ishak, Caitlin Troyer, Jong-Hee Chae, Claudia Gonzaga-Jauregui, Ann Seman, Naama Orenstein, Marcie A. Steeves, Eric G. Bend, James D. Weisfeld-Adams, Jamel Chelly, William G. Wilson, Jeanne Amiel, Darrel Waggoner
Publikováno v:
Brain, 143, 55-68. OXFORD UNIV PRESS
Brain, 143, 1, pp. 55-68
Brain, 143, 55-68
Brain
Brain, 143, 1, pp. 55-68
Brain, 143, 55-68
Brain
Contains fulltext : 218289.pdf (Publisher’s version ) (Closed access) MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ec397c293d381da181f748c538b1db
https://academic.oup.com/brain/article/143/1/55/5675541
https://academic.oup.com/brain/article/143/1/55/5675541
Autor:
Felice D'Arco, V. Ganesan, A. J. Barkovich, Gisele E. Ishak, S. Ramji, C. Raybaud, César Augusto Pinheiro Ferreira Alves, M. Grima, W.K.K. Chong
Publikováno v:
American Journal of Neuroradiology. 39:2126-2131
BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid a
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Focal signal abnormalities at the depth of the cerebellar fissures in children have recently been reported to represent a novel pattern of bottom-of-fissure dysplasia. We describe a series of patients with a similar distributi
Autor:
Sarah Ringold, Amit K Chakraborty, Ramesh S. Iyer, Sarah J. Menashe, Ezekiel Maloney, Gisele E. Ishak
Publikováno v:
Pediatric Radiology. 48:1642-1654
Localized craniofacial scleroderma is a rare pediatric disease that involves a spectrum of discoloration, fibrosis and hemiatrophy of the face and scalp. Children with localized craniofacial scleroderma may have neurological symptoms, and in this con