Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Sung-Hae L. Kang"'
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Ashwini K. Yenamandra, Rebecca B. Smith, T. Niroshi Senaratne, Sung-Hae L Kang, James M. Fink, Gregory Corboy, Casey A Hodge, Xinyan Lu, Susan Mathew, Susan Crocker, Min Fang
Publikováno v:
Cancer Genetics. :1-21
Diffuse large B cell lymphoma, not otherwise specified (DLBCL, NOS) is the most common type of non-Hodgkin lymphoma (NHL). The 2016 World Health Organization (WHO) classification defined DLBCL, NOS and its subtypes based on clinical findings, morphol
Autor:
Patrick Devine, Adib A. Abla, Joseph T. Shieh, Yan Hu, Patricia Cornett, Christopher F. Dowd, Vivian Y. Chang, Hane Lee, Sung Hae L. Kang, Iwei Yeh, Daniel L Cooke, Ilona J. Frieden, Bianca E Russell, Julian A. Martinez-Agosto, Steven W. Hetts, Jirat Chenbhanich
Publikováno v:
American Journal of Medical Genetics Part A. 185:1430-1436
Activating variants in the platelet-derived growth factor receptor β gene (PDGFRB) have been associated with Kosaki overgrowth syndrome, infantile myofibromatosis, and Penttinen premature aging syndrome. A recently described phenotype with fusiform
Autor:
Grace E. McAuley, Gloria Yiu, Patrick C Chang, Gregory A. Newby, Beatriz Campo-Fernandez, Sorel T. Fitz-Gibbon, Xiaomeng Wu, Sung-Hae L. Kang, Amber Garibay, Jeffrey Butler, Valentina Christian, Ryan L. Wong, Kelcee A. Everette, Anthony Azzun, Hila Gelfer, Christopher S. Seet, Aru Narendran, Luis Murguia-Favela, Zulema Romero, Nicola Wright, David R. Liu, Gay M. Crooks, Donald B. Kohn
Publikováno v:
Cell. 186:1398-1416.e23
Autor:
Anica M. Wandler, Aparna Murali, Thalia C. Mok, P. Nagesh Rao, Yalda Afshar, Sung-Hae L. Kang
Publikováno v:
Cancer Genetics. :10-11
Autor:
Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann
Publikováno v:
Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), sei
Autor:
Thomas D. Lee, Sheeja T. Pullarkat, Fabiola Quintero-Rivera, P. Nagesh Rao, Dinesh S. Rao, Sung Hae L. Kang, Sophie X. Song, T. Niroshi Senaratne, Celeste Eno
Publikováno v:
Cancer Genetics. :S5-S6
Autor:
Anthony Sisk, Adebowale J. Adeniran, Neil Mendhiratta, Jaclyn B. Murry, Sung Hae L. Kang, Huihui Ye, Celeste Eno, Brian Shuch
Publikováno v:
Cancer Genetics. :S14
Autor:
Ian D. Krantz, Sung Hae L. Kang, Christian P. Schaaf, Yi Heng Hao, Michael D. Fountain, Fan Xia, Jean P. Pfotenhauer, Sarah E. Noon, Patrick Ryan Potts, Jill A. Rosenfeld, Robert C. Pedersen, Klementina Fon Tacer, Margarita Saenz, Bertrand Isidor, Weimin Bi, Ankita Patel, Cédric Le Caignec, Thomas M. Morgan, Rocio Moran
Publikováno v:
Molecular Cell. 59(6):956-969
Endosomal protein recycling is a fundamental cellular process important for cellular homeostasis, signaling, and fate determination that is implicated in several diseases. WASH is an actin-nucleating protein essential for this process, and its activi
Autor:
Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi
Publikováno v:
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Background Exon-targeted microarrays can detect small (