Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Nicole L, Hoppman"'
Autor:
Beth A. Pitel, Cinthya Zepeda-Mendoza, Zohar Sachs, Hongwei Tang, Suganti Shivaram, Neeraj Sharma, James B. Smadbeck, Stephanie A. Smoley, Kathryn E. Pearce, Ivy M. Luoma, Joselle Cook, Mark R. Litzow, Nicole L. Hoppman, David Viswanatha, Xinjie Xu, Rhett P. Ketterling, Patricia T. Greipp, Jess F. Peterson, Linda B. Baughn
Publikováno v:
Blood Cancer Journal, Vol 13, Iss 1, Pp 1-5 (2023)
Externí odkaz:
https://doaj.org/article/aeebb67adf5c4359bd02b1d433a4766a
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Publikováno v:
Case Reports in Genetics, Vol 2024 (2024)
Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in c
Externí odkaz:
https://doaj.org/article/57aeece3fa0245abb7b71a83e8f6556c
Autor:
Michael Phan, Maria A. Gomes, Victoria Stinnett, Laura Morsberger, Nicole L. Hoppman, Kathryn E. Pearce, Kirstin Smith, Brian Phan, Liqun Jiang, Ying S. Zou
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 598 (2024)
Complex structural chromosome abnormalities such as chromoanagenesis have been reported in acute myeloid leukemia (AML). They are usually not well characterized by conventional genetic methods, and the characterization of chromoanagenesis structural
Externí odkaz:
https://doaj.org/article/8b773efe20884d7cacf0d9bc3f123143
Autor:
Marie-France Gagnon, Kathryn E. Pearce, Patricia T. Greipp, Xinjie Xu, Nicole L. Hoppman, Rhett P. Ketterling, Ellen D. McPhail, Rebecca L. King, Linda B. Baughn, Jess F. Peterson
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 11, Pp 1-3 (2021)
Externí odkaz:
https://doaj.org/article/350091080c5044ed9431bcbcd17a2e70
Autor:
Cinthya J. Zepeda‐Mendoza, Anna Essendrup, Stephanie A. Smoley, Sarah H. Johnson, Nicole L Hoppman, George Vasmatzis, Daniel L. Jackson, Hutton M. Kearney, Linda B. Baughn
Publikováno v:
Clinical Case Reports, Vol 9, Iss 2, Pp 769-774 (2021)
Abstract This case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.
Externí odkaz:
https://doaj.org/article/b75342e9196e4580a66a44c90a6d35e5
Autor:
Beth A. Pitel, Neeraj Sharma, Cinthya Zepeda-Mendoza, James B. Smadbeck, Kathryn E. Pearce, Joselle M. Cook, George Vasmatzis, Zohar Sachs, Rashmi Kanagal-Shamanna, David Viswanatha, Sheng Xiao, Robert B. Jenkins, Xinjie Xu, Nicole L. Hoppman, Rhett P. Ketterling, Jess F. Peterson, Patricia T. Greipp, Linda B. Baughn
Publikováno v:
Blood Cancer Journal, Vol 11, Iss 2, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/025690d4be014f22ba7775cfae5b9a03
Autor:
Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley, Ying Zou
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-8 (2019)
Abstract Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular eve
Externí odkaz:
https://doaj.org/article/75c818b5f2f84aa3a82dc9ac6796a032
Autor:
Gavin R Oliver, Sofia Marcano-Bonilla, Jonathan Quist, Ezequiel J Tolosa, Eriko Iguchi, Amy A Swanson, Nicole L Hoppman, Tanya Schwab, Ashley Sigafoos, Naresh Prodduturi, Jesse S Voss, Shannon M Knight, Jin Zhang, Numrah Fadra, Raul Urrutia, Michael Zimmerman, Jan B Egan, Anthony G Bilyeu, Jin Jen, Ema Veras, Rema'a Al-Safi, Matthew Block, Sarah Kerr, Martin E Fernandez-Zapico, John K Schoolmeester, Eric W Klee
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0250518 (2021)
Gestational trophoblastic disease (GTD) is a heterogeneous group of lesions arising from placental tissue. Epithelioid trophoblastic tumor (ETT), derived from chorionic-type trophoblast, is the rarest form of GTD with only approximately 130 cases des
Externí odkaz:
https://doaj.org/article/2bf13702df0b43e381666c65815dbd11
Autor:
Sarah J. Chalmers, Stephen J. Murphy, Laura L. Thompson, Nicole L. Hoppman, James B. Smadbeck, Jessica R. Balcom, Faye R. Harris, Robert P. Frantz, George Vasmatzis, Mark E. Wylam
Publikováno v:
Pulmonary Circulation, Vol 10 (2020)
Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II ( BMPR2 ), the gene most commonly implicated in the pathoge
Externí odkaz:
https://doaj.org/article/d71ffc738d53405681c5494b25c912d8