Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Shalini Reshmi"'
Autor:
Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarria
Externí odkaz:
https://doaj.org/article/cbb336865d6a46b69f88f107894147da
Autor:
Mariam T. Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither, Danielle Mouhlas, Sayaka Hashimoto, Maggie Humphrey, Theodora Matthews, Jesse M. Hunter, Shalini Reshmi, Matthew Schultz, Kristy Lee, Ruthann Pfau, Catherine Cottrell, Kim L. McBride, Nicholas E. Navin, Bimal P. Chaudhari, Marco L. Leung
Publikováno v:
The Journal of Molecular Diagnostics. 24:1031-1040
Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, a
Autor:
Mark G. Evans, Jason Saliba, Yassmine Akkari, Deepa Bhojwani, Piers Blombury, Arpad Danos, Paul G. Eckert, Mark D. Ewalt, Sandeep Gurbuxani, Christine J. Harrison, Ilaria Iacobucci, Shai Izraeli, Nitin Jain, Rashmi Kanagal-Shamanna, Chimène Kesserwan, Alexandra E. Kovach, Kristy Lee, Hannah Helber, Valentina Nardi, Shalini Reshmi, Kathryn Robert, Alexandre Rouette, Neerav Shukla, Wendy Stock, Panieh Terraf, Xinjie Xu, Liying Zhang, Xiaonan Zhao, Yiming Zhong, Gordana Raca, Obi L. Griffith, Malachi Griffith, Kilannin Krysiak, Charles Mullighan
Publikováno v:
Cancer Genetics. :23-24
Autor:
Thai Hoa Tran, Shalini Reshmi, Ilan Richard Kirsch, John A. Kairalla, Sarah K Tasian, Kirk R. Schultz, Elizabeth A. Raetz, Mary Shago, Andrew J. Carroll, Meenakshi Devidas, Stephen Hunger, Mignon L. Loh, Lewis B. Silverman
Publikováno v:
Journal of Clinical Oncology. 40:10023-10023
10023 Background: Minimal residual disease (MRD) assessment by immunoglobulin/T-cell receptor (Ig/TCR) polymerase chain reaction (PCR) is currently being used in the international pediatric Philadelphia chromosome-positive acute lymphoblastic leukemi
Autor:
Hongbo Yang, Hui Zhang, Yu Luan, Tingting Liu, Kathryn Roberts, Mao-xiang Qian, Bo Zhang, Wenjian Yang, Virginia Perez-Andreu, Jie Xu, Sriranga lyyanki, Da Kuang, Shalini Reshmi, Julie Gastier-Foster, Colton Smith, Ching-Hon Pui, William Evans, Stephen Hunger, Leonidas Platanias, Mary Relling, Charles Mullighan, Mignon Loh, Feng Yue, Jun Yang
Publikováno v:
Cancer Research. 81:2118-2118
Inherited non-coding genetic variants confer significant disease susceptibility in many cancers. However, the molecular processes of by which germline variants contribute to somatic lesions are poorly understood. We performed targeted sequencing in 5
Autor:
Shalini Reshmi-Skarja, Zhisheng Yu, Susan L. Abbondanzo, Xin Huang, Susanne M. Gollin, Steven H. Swerdlow, Nadine Ives Aguilera, James R. Cook
Publikováno v:
Human Pathology. 35:447-454
A t(9;14)(p13;q32) involving the PAX5 and IGH genes has been described in association with lymphoplasmacytic lymphoma. Although often described as common, the incidence of this translocation in nodal lymphoplasmacytic lymphoma has never been investig
Autor:
Xiomara Q, Rosales, Vinod, Malik, Amita, Sneh, Lei, Chen, Sarah, Lewis, Janaiah, Kota, Julie M, Gastier-Foster, Caroline, Astbury, Rob, Pyatt, Shalini, Reshmi, Louise R, Rodino-Klapac, K Reed, Clark, Jerry R, Mendell, Zarife, Sahenk
Publikováno v:
Musclenerve. 47(5)
Recent in vitro studies suggest that CAPN3 deficiency leads initially to accelerated myofiber formation followed by depletion of satellite cells (SC). In normal muscle, up-regulation of miR-1 and miR-206 facilitates transition from proliferating SCs
Publikováno v:
eLS
Chromosomal rearrangements occur during mitosis as a result of chromosomal breakage and rejoining. Such chromosomal rearrangement occurs more frequently in cancer cells than during embryogenesis or postnatally, usually as a result of environmental ex
Autor:
James R, Cook, Nadine Ives, Aguilera, Shalini, Reshmi-Skarja, Xin, Huang, Zhisheng, Yu, Susanne M, Gollin, Susan L, Abbondanzo, Steven H, Swerdlow
Publikováno v:
Human pathology. 35(4)
A t(9;14)(p13;q32) involving the PAX5 and IGH genes has been described in association with lymphoplasmacytic lymphoma. Although often described as common, the incidence of this translocation in nodal lymphoplasmacytic lymphoma has never been investig
Autor:
Susanne M. Gollin, Shalini Reshmi-Skarja, Adrian J. L. Clark, David N. Finegold, Angela Huebner, Katrin Handschug
Publikováno v:
American journal of medical genetics. Part A. (1)
Triple A syndrome is a rare, autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. Previous studies have shown that the triple A gene (AAAS) maps to chromosomal band 12q13. Mutations in the AAAS gene have been