Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Nicole Pell"'
Autor:
Andrew A Chen, Kelly Clark, Blake E Dewey, Anna DuVal, Nicole Pellegrini, Govind Nair, Youmna Jalkh, Samar Khalil, Jon Zurawski, Peter A Calabresi, Daniel S Reich, Rohit Bakshi, Haochang Shou, Russell T Shinohara, Alzheimer’s Disease Neuroimaging Initiative, and North American Imaging in Multiple Sclerosis Cooperative
Publikováno v:
PLoS Computational Biology, Vol 20, Iss 7, p e1012241 (2024)
Dimension reduction tools preserving similarity and graph structure such as t-SNE and UMAP can capture complex biological patterns in high-dimensional data. However, these tools typically are not designed to separate effects of interest from unwanted
Externí odkaz:
https://doaj.org/article/6dc81d154df04a90a16c0ae4b80ffc44
Autor:
Reza Ghassemifar, Paula Holmes, Laura Greenwood, Christopher Newbound, Nicole Pell, Dianne Grey, Jill Finlayson, John Beilby, Michelle Jennens
Publikováno v:
Hemoglobin. 36:511-515
We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764fef6fdb19c9c8900e0643cfa866b2
https://doi.org/10.3109/03630269.2012.717053
https://doi.org/10.3109/03630269.2012.717053
Autor:
Laura Greenwood, Claire Macaulay, Paula Holmes, Reza Ghassemifar, Jill Finlayson, Christopher Newbound, Michelle Jennens, Dianne Grey, John Beilby, Nicole Pell
Publikováno v:
Hemoglobin. 35:142-146
We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α(3.7) deletion, a novel mutation on the α2 gene was detected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ec8c602ca08f949552090f803e3027
https://doi.org/10.3109/03630269.2011.557462
https://doi.org/10.3109/03630269.2011.557462
Autor:
Christopher Newbound, Michelle Jennens, Talal Qadah, Reza Ghassemifar, Paula Holmes, Dianne Grey, John Beilby, Jill Finlayson, Nicole Pell
Publikováno v:
Pathology. 44(4)
Summary Aim While the phenotype for heterozygous beta-thalassae-mia is straightforward, it is more difficult to confirm a causative relationship for mutations in the alpha-globin genes. The aim of this study was to generate an in vitro system to eval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3c6ad9299dacd9c925098d69f63657
https://pubmed.ncbi.nlm.nih.gov/22531344
https://pubmed.ncbi.nlm.nih.gov/22531344
Autor:
Paula Holmes, Talal Qadah, Dianne Grey, Reza Ghassemifar, Michelle Pascoe, Nicole Pell, Christopher Newbound, Jill Finlayson, Laura Greenwood, John Beilby
Publikováno v:
Hemoglobin. 36(3)
The identification of α-thalassemia (α-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01500cbc7cbef499962d08453956ef3
https://pubmed.ncbi.nlm.nih.gov/22524210
https://pubmed.ncbi.nlm.nih.gov/22524210
Autor:
Christopher Newbound, Michelle Jennens, Jill Finlayson, Claire Macaulay, Paula Holmes, Reza Ghassemifar, Lisa Figliomeni, Laura Greenwood, Michael Kersten, Nicole Pell, Dianne Grey, John Beilby
Publikováno v:
Hemoglobin. 34(6)
Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40611badd85fcbd35500e6ea5cb3c866
https://pubmed.ncbi.nlm.nih.gov/21077763
https://pubmed.ncbi.nlm.nih.gov/21077763
Autor:
Fabienne N. Jaeger, Christoph Berger, Michael Buettcher, Sarah Depallens, Ulrich Heininger, Yvon Heller, Malte Kohns Vasconcelos, Bodil Leforestier, Nicole Pellaud, Christa Relly, Johannes Trück, Saskia von Overbeck Ottino, Noémie Wagner, Nicole Ritz
Publikováno v:
Swiss Medical Weekly, Vol 152, Iss 2122 (2022)
BACKGROUND: With the invasion of Ukraine by the Russian Army in February 2022, refugees, the majority of whom are women and children, started fleeing the war to neighbouring countries. Even before the current escalation, the conflict in the eastern p
Externí odkaz:
https://doaj.org/article/d1921d71a4694234af1fef0e590a470b
Autor:
Laura Greenwood, Nicole Pell, Paula Holmes, Reza Ghassemifar, Jill Finlayson, John Beilby, Christopher Newbound, Annie Chow, Dianne Grey, Michelle Jennens
Publikováno v:
Pathology. 44:S51-S52
Background and Aim Alpha-thalassaemia is often caused by deletion of alpha (α) globin gene/s on chromosome 16p. Non-deletional mutations (α T ), detected on a globin gene sequencing, are uncommon. Rarely, these two types of mutations co-exist. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d42b36eb7873adda3d99341ffb33b14
https://doi.org/10.1016/s0031-3025(16)32722-2
https://doi.org/10.1016/s0031-3025(16)32722-2
Publikováno v:
BMC Health Services Research, Vol 19, Iss 1, Pp 1-11 (2019)
Abstract Background The aim of this nationwide study was to investigate barriers to adequate professional interpreter use and to describe existing initiatives and identify key factors for successful interpreter policies in primary care, using Switzer
Externí odkaz:
https://doaj.org/article/8699d474f38d4fc8819bb85c5650601a
Publikováno v:
BMC Health Services Research, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background With increased international migration, language barriers are likely becoming more relevant in primary care. The aim of this study was to investigate the language barrier in paediatric and adult primary care, present its consequen
Externí odkaz:
https://doaj.org/article/aba3b655e2ed440f8e37532f1a99a5c8