Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Gary J. Latham"'
Autor:
Brian C. Haynes, Richard A. Blidner, Robyn D. Cardwell, Robert Zeigler, Shobha Gokul, Julie R. Thibert, Liangjing Chen, Junya Fujimoto, Vassiliki A. Papadimitrakopoulou, Ignacio I. Wistuba, Gary J. Latham
Publikováno v:
Translational Oncology, Vol 12, Iss 6, Pp 836-845 (2019)
We developed and characterized a next-generation sequencing (NGS) technology for streamlined analysis of DNA and RNA using low-input, low-quality cancer specimens. A single-workflow, targeted NGS panel for non–small cell lung cancer (NSCLC) was des
Externí odkaz:
https://doaj.org/article/a8950f9ea35a4e3aab0cccfb16ee6416
Autor:
David H. Barad, Sarah Darmon, Andrea Weghofer, Gary J. Latham, Filipovic-Sadic, Qi Wang, Vitaly A. Kushnir, David F. Albertini, Norbert Gleicher
Publikováno v:
Reproductive Biology and Endocrinology, Vol 15, Iss 1, Pp 1-8 (2017)
Abstract Background Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF). This prospective cohort study was undertaken to determine if X-chromosome inactiv
Externí odkaz:
https://doaj.org/article/ee607bf990814caa9925a24b410c4ad9
Autor:
Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Introduction: Fragile X syndrome (FXS) is a common form of X-linked intellectual and developmental disability with a prevalence of 1/4000–5000 in males and 1/6000–8000 in females. Most cases of the syndrome result from expansion of a premutation
Externí odkaz:
https://doaj.org/article/85f39036183544a09bd54f90a3ea85fe
Autor:
Alessandro De Luca, Annunziata Morella, Federica Consoli, Sergio Fanelli, Julie R. Thibert, Sarah Statt, Gary J. Latham, Ferdinando Squitieri
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1689 (2021)
The expanded CAG repeat number in HTT gene causes Huntington disease (HD), which is a severe, dominant neurodegenerative illness. The accurate determination of the expanded allele size is crucial to confirm the genetic status in symptomatic and presy
Externí odkaz:
https://doaj.org/article/611603534aa449ac97971cf6ee9f7d5e
Autor:
Dejan B. Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, Dragana D. Protic, Eran Bram, E. Mark Mahone, Kimberly Nicholson, Kristen Culp, Kamyab Javanmardi, Jon Kemppainen, Andrew Hadd, Kevin Sharp, Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Lili Zhou, William Ted Brown, Elizabeth Berry-Kravis, Walter E. Kaufmann, Gary J. Latham
Publikováno v:
Brain Sciences, Vol 10, Iss 10, p 694 (2020)
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineat
Externí odkaz:
https://doaj.org/article/904cd6972f0b45918585a7ea75116838
Publikováno v:
Frontiers in Genetics, Vol 5 (2014)
In 1994 it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption
Externí odkaz:
https://doaj.org/article/75e67d1f2f63482a8964081257e3bcfe
Autor:
Huiping Zhu, Gary J. Latham, Jessica L. Larson, Ya-Wen Huang, Caren Gentile, Henny H. Lemmink, Johanna Schleutker, Tsang-Ming Ko, Vivianna M. Van Deerlin, Kristin M. Abbott, Minna Toivonen, John N. Milligan, Walairat Laosinchai-Wolf, Stela Filipovic-Sadic
Publikováno v:
Journal of molecular diagnostics, 23(6), 753-764. ELSEVIER SCIENCE INC
J Mol Diagn
J Mol Diagn
Spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is associated with disease severity. SMN1 duplication markers, such as c.*3+80T>G and c.*211_*212del, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ec57853e976c37d5479aa151cdc6c1
https://research.rug.nl/en/publications/d7553b59-7a1d-4848-95cc-0efe7d7b1c4d
https://research.rug.nl/en/publications/d7553b59-7a1d-4848-95cc-0efe7d7b1c4d
Autor:
Gary J. Latham, Robert Zeigler, Robyn D. Cardwell, Brian C. Haynes, Vassiliki A. Papadimitrakopoulou, Ignacio I. Wistuba, Junya Fujimoto, Richard A. Blidner, Liangjing Chen, Shobha Gokul, Julie R. Thibert
Publikováno v:
Translational Oncology, Vol 12, Iss 6, Pp 836-845 (2019)
We developed and characterized a next-generation sequencing (NGS) technology for streamlined analysis of DNA and RNA using low-input, low-quality cancer specimens. A single-workflow, targeted NGS panel for non–small cell lung cancer (NSCLC) was des
Autor:
Emily G. Allen, Stephanie L. Sherman, Gary J. Latham, James N. Macpherson, Andrew Hadd, Nicole Tortora, Carl Dobkin, Anne Glicksman, Angela Maria Vianna-Morgante, Sarah L. Nolin, Montserrat Milà
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a
Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in u
Autor:
Richard A. Blidner, Gary J. Latham, Sarah Schmitt, Ziyan Y. Pessetto, Dan Su, Robyn D. Cardwell, Andrew K. Godwin, Stephen Hyter, Léon C van Kempen, Shobha Gokul, Maria Aguirre, Patrick Hurban, Brian C. Haynes
Publikováno v:
The Journal of Molecular Diagnostics : JMD
Lung cancer accounts for approximately 14% of all newly diagnosed cancers and is the leading cause of cancer-related deaths. Chimeric RNA resulting from gene fusions (RNA fusions) and other RNA splicing errors are driver events and clinically address