Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nicole Pell"'
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:
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
Autor:
Finlayson, Jill1,2 (AUTHOR) Jill.Finlayson@health.wa.gov.au, Ghassemifar, Reza1,2 (AUTHOR), Holmes, Paula1 (AUTHOR), Grey, Dianne1 (AUTHOR), Newbound, Christopher3 (AUTHOR), Pell, Nicole3 (AUTHOR), Jennens, Michelle3 (AUTHOR), Greenwood, Laura3 (AUTHOR), Beilby, John2,3 (AUTHOR)
Publikováno v:
Hemoglobin. Oct2012, Vol. 36 Issue 5, p511-515. 5p.
Autor:
Qadah, Talal1,2,3 (AUTHOR), Finlayson, Jill1,2 (AUTHOR), Newbound, Christopher4 (AUTHOR), Pell, Nicole4 (AUTHOR), Pascoe, Michelle4 (AUTHOR), Greenwood, Laura4 (AUTHOR), Holmes, Paula1 (AUTHOR), Grey, Dianne1 (AUTHOR), Beilby, John2,4 (AUTHOR), Ghassemifar, Reza1,2 (AUTHOR) Reza.Ghassemifar@health.wa.gov.au
Publikováno v:
Hemoglobin. Jun2012, Vol. 36 Issue 3, p244-252. 9p.
Autor:
Finlayson, Jill1,2 (AUTHOR) Jill.Finlayson@health.wa.gov.au, Ghassemifar, Reza1,2 (AUTHOR), Holmes, Paula1 (AUTHOR), Grey, Dianne1 (AUTHOR), Newbound, Christopher3 (AUTHOR), Pell, Nicole3 (AUTHOR), Jennens, Michelle3 (AUTHOR), Macaulay, Claire3 (AUTHOR), Greenwood, Laura3 (AUTHOR), Beilby, John2,3 (AUTHOR)
Publikováno v:
Hemoglobin. Apr2011, Vol. 35 Issue 2, p142-146. 5p. 1 Diagram, 1 Chart, 1 Graph.
Autor:
Finlayson, Jill1,2 (AUTHOR) Jill.Finlayson@health.wa.gov.au, Ghassemifar, Reza1,2 (AUTHOR), Holmes, Paula1 (AUTHOR), Grey, Dianne1 (AUTHOR), Figliomeni, Lisa3 (AUTHOR), Newbound, Christopher3 (AUTHOR), Pell, Nicole3 (AUTHOR), Kersten, Michael3 (AUTHOR), Jennens, Michelle3 (AUTHOR), Macaulay, Claire3 (AUTHOR), Greenwood, Laura3 (AUTHOR), Beilby, John2,3 (AUTHOR)
Publikováno v:
Hemoglobin. Dec2010, Vol. 34 Issue 6, p561-564. 4p. 1 Chart, 1 Graph.